Incidental Mutation 'R1754:Arid1b'
ID |
193889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arid1b
|
Ensembl Gene |
ENSMUSG00000069729 |
Gene Name |
AT-rich interaction domain 1B |
Synonyms |
9330189K18Rik, B230217J03Rik |
MMRRC Submission |
039786-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.783)
|
Stock # |
R1754 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
5044607-5397931 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 5329476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092723]
[ENSMUST00000092723]
[ENSMUST00000092723]
[ENSMUST00000115797]
[ENSMUST00000115797]
[ENSMUST00000115797]
[ENSMUST00000115799]
[ENSMUST00000115799]
[ENSMUST00000115799]
[ENSMUST00000232180]
[ENSMUST00000232180]
[ENSMUST00000232180]
|
AlphaFold |
E9Q4N7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092723
|
SMART Domains |
Protein: ENSMUSP00000090398 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
51 |
N/A |
INTRINSIC |
low complexity region
|
69 |
132 |
N/A |
INTRINSIC |
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
low complexity region
|
201 |
224 |
N/A |
INTRINSIC |
low complexity region
|
232 |
247 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
301 |
371 |
N/A |
INTRINSIC |
low complexity region
|
379 |
407 |
N/A |
INTRINSIC |
low complexity region
|
438 |
476 |
N/A |
INTRINSIC |
low complexity region
|
485 |
499 |
N/A |
INTRINSIC |
low complexity region
|
538 |
558 |
N/A |
INTRINSIC |
low complexity region
|
574 |
591 |
N/A |
INTRINSIC |
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
low complexity region
|
615 |
640 |
N/A |
INTRINSIC |
low complexity region
|
691 |
707 |
N/A |
INTRINSIC |
low complexity region
|
719 |
740 |
N/A |
INTRINSIC |
low complexity region
|
743 |
773 |
N/A |
INTRINSIC |
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
low complexity region
|
912 |
930 |
N/A |
INTRINSIC |
low complexity region
|
936 |
952 |
N/A |
INTRINSIC |
low complexity region
|
974 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1045 |
N/A |
INTRINSIC |
ARID
|
1057 |
1147 |
9.9e-33 |
SMART |
BRIGHT
|
1061 |
1152 |
7.62e-41 |
SMART |
low complexity region
|
1166 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1336 |
1364 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1456 |
N/A |
INTRINSIC |
low complexity region
|
1473 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1579 |
1595 |
N/A |
INTRINSIC |
coiled coil region
|
1724 |
1745 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1843 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1933 |
2189 |
1.5e-152 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000092723
|
SMART Domains |
Protein: ENSMUSP00000090398 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
51 |
N/A |
INTRINSIC |
low complexity region
|
69 |
132 |
N/A |
INTRINSIC |
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
low complexity region
|
201 |
224 |
N/A |
INTRINSIC |
low complexity region
|
232 |
247 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
301 |
371 |
N/A |
INTRINSIC |
low complexity region
|
379 |
407 |
N/A |
INTRINSIC |
low complexity region
|
438 |
476 |
N/A |
INTRINSIC |
low complexity region
|
485 |
499 |
N/A |
INTRINSIC |
low complexity region
|
538 |
558 |
N/A |
INTRINSIC |
low complexity region
|
574 |
591 |
N/A |
INTRINSIC |
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
low complexity region
|
615 |
640 |
N/A |
INTRINSIC |
low complexity region
|
691 |
707 |
N/A |
INTRINSIC |
low complexity region
|
719 |
740 |
N/A |
INTRINSIC |
low complexity region
|
743 |
773 |
N/A |
INTRINSIC |
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
low complexity region
|
912 |
930 |
N/A |
INTRINSIC |
low complexity region
|
936 |
952 |
N/A |
INTRINSIC |
low complexity region
|
974 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1045 |
N/A |
INTRINSIC |
ARID
|
1057 |
1147 |
9.9e-33 |
SMART |
BRIGHT
|
1061 |
1152 |
7.62e-41 |
SMART |
low complexity region
|
1166 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1336 |
1364 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1456 |
N/A |
INTRINSIC |
low complexity region
|
1473 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1579 |
1595 |
N/A |
INTRINSIC |
coiled coil region
|
1724 |
1745 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1843 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1933 |
2189 |
1.5e-152 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000092723
|
SMART Domains |
Protein: ENSMUSP00000090398 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
51 |
N/A |
INTRINSIC |
low complexity region
|
69 |
132 |
N/A |
INTRINSIC |
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
low complexity region
|
201 |
224 |
N/A |
INTRINSIC |
low complexity region
|
232 |
247 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
301 |
371 |
N/A |
INTRINSIC |
low complexity region
|
379 |
407 |
N/A |
INTRINSIC |
low complexity region
|
438 |
476 |
N/A |
INTRINSIC |
low complexity region
|
485 |
499 |
N/A |
INTRINSIC |
low complexity region
|
538 |
558 |
N/A |
INTRINSIC |
low complexity region
|
574 |
591 |
N/A |
INTRINSIC |
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
low complexity region
|
615 |
640 |
N/A |
INTRINSIC |
low complexity region
|
691 |
707 |
N/A |
INTRINSIC |
low complexity region
|
719 |
740 |
N/A |
INTRINSIC |
low complexity region
|
743 |
773 |
N/A |
INTRINSIC |
low complexity region
|
805 |
816 |
N/A |
INTRINSIC |
low complexity region
|
912 |
930 |
N/A |
INTRINSIC |
low complexity region
|
936 |
952 |
N/A |
INTRINSIC |
low complexity region
|
974 |
985 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1045 |
N/A |
INTRINSIC |
ARID
|
1057 |
1147 |
9.9e-33 |
SMART |
BRIGHT
|
1061 |
1152 |
7.62e-41 |
SMART |
low complexity region
|
1166 |
1177 |
N/A |
INTRINSIC |
low complexity region
|
1257 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1336 |
1364 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1456 |
N/A |
INTRINSIC |
low complexity region
|
1473 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1579 |
1595 |
N/A |
INTRINSIC |
coiled coil region
|
1724 |
1745 |
N/A |
INTRINSIC |
low complexity region
|
1835 |
1843 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1933 |
2189 |
1.5e-152 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115797
|
SMART Domains |
Protein: ENSMUSP00000111463 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
80 |
N/A |
INTRINSIC |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
low complexity region
|
149 |
172 |
N/A |
INTRINSIC |
low complexity region
|
180 |
195 |
N/A |
INTRINSIC |
low complexity region
|
205 |
224 |
N/A |
INTRINSIC |
low complexity region
|
249 |
319 |
N/A |
INTRINSIC |
low complexity region
|
327 |
355 |
N/A |
INTRINSIC |
low complexity region
|
386 |
424 |
N/A |
INTRINSIC |
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
low complexity region
|
486 |
506 |
N/A |
INTRINSIC |
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
low complexity region
|
544 |
559 |
N/A |
INTRINSIC |
low complexity region
|
563 |
588 |
N/A |
INTRINSIC |
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
low complexity region
|
667 |
688 |
N/A |
INTRINSIC |
low complexity region
|
691 |
721 |
N/A |
INTRINSIC |
low complexity region
|
753 |
764 |
N/A |
INTRINSIC |
low complexity region
|
860 |
878 |
N/A |
INTRINSIC |
low complexity region
|
884 |
900 |
N/A |
INTRINSIC |
low complexity region
|
922 |
933 |
N/A |
INTRINSIC |
Blast:ARID
|
981 |
1028 |
1e-8 |
BLAST |
low complexity region
|
1029 |
1054 |
N/A |
INTRINSIC |
ARID
|
1058 |
1148 |
9.9e-33 |
SMART |
BRIGHT
|
1062 |
1153 |
7.62e-41 |
SMART |
low complexity region
|
1167 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1258 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1337 |
1365 |
N/A |
INTRINSIC |
low complexity region
|
1427 |
1457 |
N/A |
INTRINSIC |
low complexity region
|
1474 |
1487 |
N/A |
INTRINSIC |
low complexity region
|
1580 |
1596 |
N/A |
INTRINSIC |
coiled coil region
|
1725 |
1746 |
N/A |
INTRINSIC |
low complexity region
|
1836 |
1844 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1935 |
2190 |
6.3e-121 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115797
|
SMART Domains |
Protein: ENSMUSP00000111463 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
80 |
N/A |
INTRINSIC |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
low complexity region
|
149 |
172 |
N/A |
INTRINSIC |
low complexity region
|
180 |
195 |
N/A |
INTRINSIC |
low complexity region
|
205 |
224 |
N/A |
INTRINSIC |
low complexity region
|
249 |
319 |
N/A |
INTRINSIC |
low complexity region
|
327 |
355 |
N/A |
INTRINSIC |
low complexity region
|
386 |
424 |
N/A |
INTRINSIC |
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
low complexity region
|
486 |
506 |
N/A |
INTRINSIC |
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
low complexity region
|
544 |
559 |
N/A |
INTRINSIC |
low complexity region
|
563 |
588 |
N/A |
INTRINSIC |
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
low complexity region
|
667 |
688 |
N/A |
INTRINSIC |
low complexity region
|
691 |
721 |
N/A |
INTRINSIC |
low complexity region
|
753 |
764 |
N/A |
INTRINSIC |
low complexity region
|
860 |
878 |
N/A |
INTRINSIC |
low complexity region
|
884 |
900 |
N/A |
INTRINSIC |
low complexity region
|
922 |
933 |
N/A |
INTRINSIC |
Blast:ARID
|
981 |
1028 |
1e-8 |
BLAST |
low complexity region
|
1029 |
1054 |
N/A |
INTRINSIC |
ARID
|
1058 |
1148 |
9.9e-33 |
SMART |
BRIGHT
|
1062 |
1153 |
7.62e-41 |
SMART |
low complexity region
|
1167 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1258 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1337 |
1365 |
N/A |
INTRINSIC |
low complexity region
|
1427 |
1457 |
N/A |
INTRINSIC |
low complexity region
|
1474 |
1487 |
N/A |
INTRINSIC |
low complexity region
|
1580 |
1596 |
N/A |
INTRINSIC |
coiled coil region
|
1725 |
1746 |
N/A |
INTRINSIC |
low complexity region
|
1836 |
1844 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1935 |
2190 |
6.3e-121 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115797
|
SMART Domains |
Protein: ENSMUSP00000111463 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
80 |
N/A |
INTRINSIC |
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
low complexity region
|
149 |
172 |
N/A |
INTRINSIC |
low complexity region
|
180 |
195 |
N/A |
INTRINSIC |
low complexity region
|
205 |
224 |
N/A |
INTRINSIC |
low complexity region
|
249 |
319 |
N/A |
INTRINSIC |
low complexity region
|
327 |
355 |
N/A |
INTRINSIC |
low complexity region
|
386 |
424 |
N/A |
INTRINSIC |
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
low complexity region
|
486 |
506 |
N/A |
INTRINSIC |
low complexity region
|
522 |
539 |
N/A |
INTRINSIC |
low complexity region
|
544 |
559 |
N/A |
INTRINSIC |
low complexity region
|
563 |
588 |
N/A |
INTRINSIC |
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
low complexity region
|
667 |
688 |
N/A |
INTRINSIC |
low complexity region
|
691 |
721 |
N/A |
INTRINSIC |
low complexity region
|
753 |
764 |
N/A |
INTRINSIC |
low complexity region
|
860 |
878 |
N/A |
INTRINSIC |
low complexity region
|
884 |
900 |
N/A |
INTRINSIC |
low complexity region
|
922 |
933 |
N/A |
INTRINSIC |
Blast:ARID
|
981 |
1028 |
1e-8 |
BLAST |
low complexity region
|
1029 |
1054 |
N/A |
INTRINSIC |
ARID
|
1058 |
1148 |
9.9e-33 |
SMART |
BRIGHT
|
1062 |
1153 |
7.62e-41 |
SMART |
low complexity region
|
1167 |
1178 |
N/A |
INTRINSIC |
low complexity region
|
1258 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1337 |
1365 |
N/A |
INTRINSIC |
low complexity region
|
1427 |
1457 |
N/A |
INTRINSIC |
low complexity region
|
1474 |
1487 |
N/A |
INTRINSIC |
low complexity region
|
1580 |
1596 |
N/A |
INTRINSIC |
coiled coil region
|
1725 |
1746 |
N/A |
INTRINSIC |
low complexity region
|
1836 |
1844 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1935 |
2190 |
6.3e-121 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115799
|
SMART Domains |
Protein: ENSMUSP00000111465 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
low complexity region
|
111 |
136 |
N/A |
INTRINSIC |
low complexity region
|
187 |
203 |
N/A |
INTRINSIC |
low complexity region
|
215 |
236 |
N/A |
INTRINSIC |
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
Blast:ARID
|
499 |
546 |
1e-8 |
BLAST |
low complexity region
|
547 |
572 |
N/A |
INTRINSIC |
ARID
|
576 |
666 |
9.9e-33 |
SMART |
BRIGHT
|
580 |
671 |
7.62e-41 |
SMART |
low complexity region
|
685 |
696 |
N/A |
INTRINSIC |
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
low complexity region
|
855 |
883 |
N/A |
INTRINSIC |
low complexity region
|
945 |
975 |
N/A |
INTRINSIC |
low complexity region
|
992 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1098 |
1114 |
N/A |
INTRINSIC |
coiled coil region
|
1243 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1354 |
1362 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1452 |
1708 |
1.1e-152 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115799
|
SMART Domains |
Protein: ENSMUSP00000111465 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
low complexity region
|
111 |
136 |
N/A |
INTRINSIC |
low complexity region
|
187 |
203 |
N/A |
INTRINSIC |
low complexity region
|
215 |
236 |
N/A |
INTRINSIC |
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
Blast:ARID
|
499 |
546 |
1e-8 |
BLAST |
low complexity region
|
547 |
572 |
N/A |
INTRINSIC |
ARID
|
576 |
666 |
9.9e-33 |
SMART |
BRIGHT
|
580 |
671 |
7.62e-41 |
SMART |
low complexity region
|
685 |
696 |
N/A |
INTRINSIC |
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
low complexity region
|
855 |
883 |
N/A |
INTRINSIC |
low complexity region
|
945 |
975 |
N/A |
INTRINSIC |
low complexity region
|
992 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1098 |
1114 |
N/A |
INTRINSIC |
coiled coil region
|
1243 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1354 |
1362 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1452 |
1708 |
1.1e-152 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115799
|
SMART Domains |
Protein: ENSMUSP00000111465 Gene: ENSMUSG00000069729
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
87 |
N/A |
INTRINSIC |
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
low complexity region
|
111 |
136 |
N/A |
INTRINSIC |
low complexity region
|
187 |
203 |
N/A |
INTRINSIC |
low complexity region
|
215 |
236 |
N/A |
INTRINSIC |
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
low complexity region
|
378 |
396 |
N/A |
INTRINSIC |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
Blast:ARID
|
499 |
546 |
1e-8 |
BLAST |
low complexity region
|
547 |
572 |
N/A |
INTRINSIC |
ARID
|
576 |
666 |
9.9e-33 |
SMART |
BRIGHT
|
580 |
671 |
7.62e-41 |
SMART |
low complexity region
|
685 |
696 |
N/A |
INTRINSIC |
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
low complexity region
|
855 |
883 |
N/A |
INTRINSIC |
low complexity region
|
945 |
975 |
N/A |
INTRINSIC |
low complexity region
|
992 |
1005 |
N/A |
INTRINSIC |
low complexity region
|
1098 |
1114 |
N/A |
INTRINSIC |
coiled coil region
|
1243 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1354 |
1362 |
N/A |
INTRINSIC |
Pfam:DUF3518
|
1452 |
1708 |
1.1e-152 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000232180
|
Predicted Effect |
probably null
Transcript: ENSMUST00000232180
|
Predicted Effect |
probably null
Transcript: ENSMUST00000232180
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
All alleles(61) : Targeted(2) Gene trapped(59)
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
A |
2: 25,324,345 (GRCm39) |
L234M |
probably benign |
Het |
Abca3 |
G |
A |
17: 24,596,753 (GRCm39) |
S402N |
probably benign |
Het |
Acad12 |
A |
T |
5: 121,745,544 (GRCm39) |
V249D |
probably benign |
Het |
Acp4 |
T |
C |
7: 43,904,428 (GRCm39) |
I212V |
probably benign |
Het |
Actl6a |
T |
A |
3: 32,772,723 (GRCm39) |
V233D |
probably damaging |
Het |
Aire |
T |
A |
10: 77,866,124 (GRCm39) |
Q533L |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 4,018,517 (GRCm39) |
S411P |
probably benign |
Het |
Amer2 |
A |
G |
14: 60,617,206 (GRCm39) |
K467R |
probably damaging |
Het |
Apol9b |
A |
T |
15: 77,619,962 (GRCm39) |
I253F |
probably benign |
Het |
Atp6v0a4 |
T |
C |
6: 38,044,764 (GRCm39) |
T494A |
probably benign |
Het |
Atp6v1b2 |
A |
G |
8: 69,554,613 (GRCm39) |
D106G |
probably benign |
Het |
Avpr1b |
T |
C |
1: 131,527,839 (GRCm39) |
S121P |
probably damaging |
Het |
Bcl11a |
A |
C |
11: 24,114,724 (GRCm39) |
E689A |
probably damaging |
Het |
Brpf3 |
T |
G |
17: 29,040,297 (GRCm39) |
L906R |
probably benign |
Het |
Btn1a1 |
T |
C |
13: 23,644,638 (GRCm39) |
K287E |
probably benign |
Het |
Cacna1i |
A |
G |
15: 80,255,730 (GRCm39) |
H871R |
probably damaging |
Het |
Cd14 |
A |
T |
18: 36,858,567 (GRCm39) |
L296Q |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Colgalt1 |
G |
T |
8: 72,075,823 (GRCm39) |
W490L |
probably damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,732 (GRCm39) |
I273T |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,543,344 (GRCm39) |
D2275E |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,601,059 (GRCm39) |
|
probably null |
Het |
Egfem1 |
T |
C |
3: 29,722,482 (GRCm39) |
Y404H |
possibly damaging |
Het |
Esm1 |
A |
T |
13: 113,353,230 (GRCm39) |
N171Y |
probably damaging |
Het |
Exoc1 |
T |
G |
5: 76,708,169 (GRCm39) |
|
probably null |
Het |
Fam243 |
A |
G |
16: 92,117,919 (GRCm39) |
V123A |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,163,890 (GRCm39) |
I580T |
probably benign |
Het |
Fgfr1 |
A |
G |
8: 26,060,226 (GRCm39) |
H552R |
probably damaging |
Het |
Fsbp |
A |
G |
4: 11,583,906 (GRCm39) |
R202G |
probably damaging |
Het |
Gabra6 |
A |
G |
11: 42,207,388 (GRCm39) |
V231A |
probably damaging |
Het |
Gmeb1 |
A |
G |
4: 131,959,338 (GRCm39) |
S239P |
probably benign |
Het |
Gnpat |
T |
A |
8: 125,603,745 (GRCm39) |
Y208N |
probably damaging |
Het |
Il21 |
T |
C |
3: 37,279,674 (GRCm39) |
K114R |
possibly damaging |
Het |
Inhbc |
T |
C |
10: 127,206,162 (GRCm39) |
D35G |
possibly damaging |
Het |
Inpp4b |
A |
T |
8: 82,497,440 (GRCm39) |
T87S |
probably damaging |
Het |
Kcns2 |
T |
C |
15: 34,839,663 (GRCm39) |
I342T |
possibly damaging |
Het |
Ky |
A |
T |
9: 102,419,126 (GRCm39) |
T378S |
possibly damaging |
Het |
Lcat |
CAT |
C |
8: 106,668,446 (GRCm39) |
|
probably null |
Het |
Lrrc8d |
T |
C |
5: 105,960,523 (GRCm39) |
V311A |
probably benign |
Het |
Mief1 |
A |
G |
15: 80,133,803 (GRCm39) |
I287V |
probably damaging |
Het |
Mrpl47 |
A |
G |
3: 32,784,233 (GRCm39) |
V179A |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,687,178 (GRCm39) |
K576R |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,703,884 (GRCm39) |
A1902E |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,449,228 (GRCm39) |
T837A |
possibly damaging |
Het |
Nr1i3 |
T |
C |
1: 171,044,963 (GRCm39) |
Y132H |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,263,762 (GRCm39) |
|
probably null |
Het |
Or12j4 |
A |
T |
7: 140,046,773 (GRCm39) |
I220F |
probably damaging |
Het |
Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,159 (GRCm39) |
R77S |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,717 (GRCm39) |
S242P |
probably damaging |
Het |
Or5h25 |
T |
A |
16: 58,930,944 (GRCm39) |
I10F |
probably benign |
Het |
Or6k14 |
A |
G |
1: 173,927,599 (GRCm39) |
T192A |
probably benign |
Het |
Or7a42 |
T |
A |
10: 78,791,531 (GRCm39) |
V164E |
probably damaging |
Het |
Or9k2 |
G |
A |
10: 129,999,033 (GRCm39) |
T54I |
probably benign |
Het |
Pdlim4 |
T |
C |
11: 53,946,699 (GRCm39) |
E196G |
possibly damaging |
Het |
Pigs |
A |
G |
11: 78,228,673 (GRCm39) |
Y293C |
probably damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,757,458 (GRCm39) |
S1527T |
possibly damaging |
Het |
Pkd2l1 |
A |
T |
19: 44,144,040 (GRCm39) |
Y344* |
probably null |
Het |
Pmp2 |
T |
C |
3: 10,247,284 (GRCm39) |
|
probably null |
Het |
Polr3e |
T |
C |
7: 120,538,521 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
C |
G |
3: 136,587,209 (GRCm39) |
I230M |
probably benign |
Het |
Ppp5c |
T |
C |
7: 16,739,235 (GRCm39) |
H463R |
probably benign |
Het |
Ptger1 |
A |
G |
8: 84,395,926 (GRCm39) |
N328D |
probably benign |
Het |
Rhno1 |
A |
T |
6: 128,334,822 (GRCm39) |
I167N |
probably benign |
Het |
Rictor |
C |
A |
15: 6,764,849 (GRCm39) |
P34H |
probably damaging |
Het |
Rnf10 |
A |
C |
5: 115,383,924 (GRCm39) |
S630R |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,117,942 (GRCm39) |
Q501R |
probably benign |
Het |
Rngtt |
T |
G |
4: 33,329,634 (GRCm39) |
|
probably null |
Het |
Samd9l |
G |
T |
6: 3,373,126 (GRCm39) |
F1378L |
probably damaging |
Het |
Slc9c1 |
T |
A |
16: 45,409,872 (GRCm39) |
M864K |
probably benign |
Het |
Slitrk5 |
T |
C |
14: 111,917,951 (GRCm39) |
F525S |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,076,290 (GRCm39) |
M784V |
probably benign |
Het |
Spata31e4 |
A |
T |
13: 50,855,123 (GRCm39) |
T254S |
probably damaging |
Het |
Spint2 |
C |
T |
7: 28,959,791 (GRCm39) |
|
probably null |
Het |
Ssh1 |
A |
T |
5: 114,093,906 (GRCm39) |
I276N |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,221,939 (GRCm39) |
V2892D |
probably benign |
Het |
Ttn |
C |
A |
2: 76,581,384 (GRCm39) |
E21424* |
probably null |
Het |
Usp17lc |
T |
C |
7: 103,068,055 (GRCm39) |
I450T |
probably benign |
Het |
Vcan |
A |
G |
13: 89,852,854 (GRCm39) |
V702A |
probably benign |
Het |
Vmn1r36 |
TA |
TAA |
6: 66,693,517 (GRCm39) |
|
probably null |
Het |
Vmn2r51 |
G |
T |
7: 9,833,873 (GRCm39) |
D388E |
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,244 (GRCm39) |
S721L |
probably damaging |
Het |
Zfp106 |
A |
C |
2: 120,364,245 (GRCm39) |
S721A |
probably damaging |
Het |
Zfp189 |
T |
A |
4: 49,529,342 (GRCm39) |
H148Q |
possibly damaging |
Het |
Zfp352 |
A |
T |
4: 90,112,046 (GRCm39) |
Y62F |
probably benign |
Het |
Zfp839 |
T |
C |
12: 110,821,891 (GRCm39) |
V235A |
probably damaging |
Het |
Zfp871 |
T |
C |
17: 32,994,308 (GRCm39) |
Y289C |
probably damaging |
Het |
|
Other mutations in Arid1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Arid1b
|
APN |
17 |
5,387,385 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL00340:Arid1b
|
APN |
17 |
5,371,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00886:Arid1b
|
APN |
17 |
5,177,254 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01161:Arid1b
|
APN |
17 |
5,392,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01391:Arid1b
|
APN |
17 |
5,369,133 (GRCm39) |
splice site |
probably benign |
|
IGL01456:Arid1b
|
APN |
17 |
5,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02152:Arid1b
|
APN |
17 |
5,364,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02288:Arid1b
|
APN |
17 |
5,314,315 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02713:Arid1b
|
APN |
17 |
5,393,286 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02858:Arid1b
|
APN |
17 |
5,392,166 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02885:Arid1b
|
APN |
17 |
5,392,428 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02989:Arid1b
|
APN |
17 |
5,385,322 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4449:Arid1b
|
UTSW |
17 |
5,045,864 (GRCm39) |
small insertion |
probably benign |
|
PIT4142001:Arid1b
|
UTSW |
17 |
5,389,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Arid1b
|
UTSW |
17 |
5,364,309 (GRCm39) |
critical splice donor site |
probably null |
|
R0124:Arid1b
|
UTSW |
17 |
5,389,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Arid1b
|
UTSW |
17 |
5,393,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R0465:Arid1b
|
UTSW |
17 |
5,046,535 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0825:Arid1b
|
UTSW |
17 |
5,392,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1172:Arid1b
|
UTSW |
17 |
5,389,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Arid1b
|
UTSW |
17 |
5,293,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R1468:Arid1b
|
UTSW |
17 |
5,293,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R1616:Arid1b
|
UTSW |
17 |
5,389,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1760:Arid1b
|
UTSW |
17 |
5,392,088 (GRCm39) |
missense |
probably damaging |
0.97 |
R1812:Arid1b
|
UTSW |
17 |
5,387,304 (GRCm39) |
missense |
probably benign |
0.10 |
R1911:Arid1b
|
UTSW |
17 |
5,393,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Arid1b
|
UTSW |
17 |
5,386,790 (GRCm39) |
splice site |
probably null |
|
R3913:Arid1b
|
UTSW |
17 |
5,392,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3916:Arid1b
|
UTSW |
17 |
5,392,928 (GRCm39) |
missense |
probably benign |
0.25 |
R3922:Arid1b
|
UTSW |
17 |
5,393,316 (GRCm39) |
missense |
probably damaging |
0.97 |
R4119:Arid1b
|
UTSW |
17 |
5,046,069 (GRCm39) |
unclassified |
probably benign |
|
R4290:Arid1b
|
UTSW |
17 |
5,090,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Arid1b
|
UTSW |
17 |
5,090,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R4352:Arid1b
|
UTSW |
17 |
5,147,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4386:Arid1b
|
UTSW |
17 |
5,045,247 (GRCm39) |
unclassified |
probably benign |
|
R4458:Arid1b
|
UTSW |
17 |
5,293,191 (GRCm39) |
missense |
probably damaging |
0.99 |
R4524:Arid1b
|
UTSW |
17 |
5,147,895 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4622:Arid1b
|
UTSW |
17 |
5,045,325 (GRCm39) |
unclassified |
probably benign |
|
R4723:Arid1b
|
UTSW |
17 |
5,387,565 (GRCm39) |
missense |
probably benign |
0.01 |
R4782:Arid1b
|
UTSW |
17 |
5,389,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R4799:Arid1b
|
UTSW |
17 |
5,389,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Arid1b
|
UTSW |
17 |
5,392,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Arid1b
|
UTSW |
17 |
5,393,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R5083:Arid1b
|
UTSW |
17 |
5,364,293 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5204:Arid1b
|
UTSW |
17 |
5,393,316 (GRCm39) |
missense |
probably damaging |
0.97 |
R5347:Arid1b
|
UTSW |
17 |
5,341,332 (GRCm39) |
nonsense |
probably null |
|
R5553:Arid1b
|
UTSW |
17 |
5,364,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5713:Arid1b
|
UTSW |
17 |
5,387,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R5820:Arid1b
|
UTSW |
17 |
5,046,529 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5992:Arid1b
|
UTSW |
17 |
5,045,231 (GRCm39) |
unclassified |
probably benign |
|
R6038:Arid1b
|
UTSW |
17 |
5,386,957 (GRCm39) |
missense |
probably benign |
0.07 |
R6038:Arid1b
|
UTSW |
17 |
5,386,957 (GRCm39) |
missense |
probably benign |
0.07 |
R6153:Arid1b
|
UTSW |
17 |
5,293,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R6222:Arid1b
|
UTSW |
17 |
5,377,922 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6249:Arid1b
|
UTSW |
17 |
5,329,636 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6279:Arid1b
|
UTSW |
17 |
5,392,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Arid1b
|
UTSW |
17 |
5,387,538 (GRCm39) |
nonsense |
probably null |
|
R6368:Arid1b
|
UTSW |
17 |
5,382,808 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6466:Arid1b
|
UTSW |
17 |
5,377,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6861:Arid1b
|
UTSW |
17 |
5,377,961 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7008:Arid1b
|
UTSW |
17 |
5,341,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R7270:Arid1b
|
UTSW |
17 |
5,046,318 (GRCm39) |
missense |
unknown |
|
R7514:Arid1b
|
UTSW |
17 |
5,391,989 (GRCm39) |
missense |
probably benign |
0.28 |
R7519:Arid1b
|
UTSW |
17 |
5,046,128 (GRCm39) |
small insertion |
probably benign |
|
R7519:Arid1b
|
UTSW |
17 |
5,046,119 (GRCm39) |
small insertion |
probably benign |
|
R7521:Arid1b
|
UTSW |
17 |
5,392,865 (GRCm39) |
missense |
probably benign |
0.06 |
R7521:Arid1b
|
UTSW |
17 |
5,046,119 (GRCm39) |
small insertion |
probably benign |
|
R7521:Arid1b
|
UTSW |
17 |
5,046,135 (GRCm39) |
small insertion |
probably benign |
|
R7616:Arid1b
|
UTSW |
17 |
5,045,661 (GRCm39) |
missense |
unknown |
|
R7654:Arid1b
|
UTSW |
17 |
5,341,360 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7711:Arid1b
|
UTSW |
17 |
5,387,095 (GRCm39) |
missense |
probably benign |
0.28 |
R7828:Arid1b
|
UTSW |
17 |
5,147,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7864:Arid1b
|
UTSW |
17 |
5,392,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7998:Arid1b
|
UTSW |
17 |
5,377,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R8105:Arid1b
|
UTSW |
17 |
5,341,518 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8260:Arid1b
|
UTSW |
17 |
5,382,788 (GRCm39) |
missense |
probably benign |
0.03 |
R8374:Arid1b
|
UTSW |
17 |
5,392,919 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8779:Arid1b
|
UTSW |
17 |
5,391,809 (GRCm39) |
missense |
probably benign |
0.03 |
R8801:Arid1b
|
UTSW |
17 |
5,387,103 (GRCm39) |
missense |
probably benign |
0.05 |
R8894:Arid1b
|
UTSW |
17 |
5,377,668 (GRCm39) |
missense |
probably damaging |
0.98 |
R8982:Arid1b
|
UTSW |
17 |
5,293,316 (GRCm39) |
missense |
probably damaging |
0.98 |
R9034:Arid1b
|
UTSW |
17 |
5,387,180 (GRCm39) |
missense |
probably benign |
0.01 |
R9272:Arid1b
|
UTSW |
17 |
5,386,879 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9300:Arid1b
|
UTSW |
17 |
5,293,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R9332:Arid1b
|
UTSW |
17 |
5,045,584 (GRCm39) |
missense |
unknown |
|
R9481:Arid1b
|
UTSW |
17 |
5,369,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R9493:Arid1b
|
UTSW |
17 |
5,046,423 (GRCm39) |
missense |
unknown |
|
R9512:Arid1b
|
UTSW |
17 |
5,391,864 (GRCm39) |
missense |
probably benign |
0.00 |
R9548:Arid1b
|
UTSW |
17 |
5,385,262 (GRCm39) |
missense |
probably damaging |
1.00 |
RF007:Arid1b
|
UTSW |
17 |
5,045,869 (GRCm39) |
small insertion |
probably benign |
|
RF008:Arid1b
|
UTSW |
17 |
5,045,870 (GRCm39) |
small insertion |
probably benign |
|
RF008:Arid1b
|
UTSW |
17 |
5,045,869 (GRCm39) |
small insertion |
probably benign |
|
RF025:Arid1b
|
UTSW |
17 |
5,045,871 (GRCm39) |
small insertion |
probably benign |
|
RF025:Arid1b
|
UTSW |
17 |
5,045,863 (GRCm39) |
small insertion |
probably benign |
|
RF028:Arid1b
|
UTSW |
17 |
5,045,873 (GRCm39) |
small insertion |
probably benign |
|
RF032:Arid1b
|
UTSW |
17 |
5,045,863 (GRCm39) |
small insertion |
probably benign |
|
RF033:Arid1b
|
UTSW |
17 |
5,045,860 (GRCm39) |
small insertion |
probably benign |
|
RF041:Arid1b
|
UTSW |
17 |
5,045,870 (GRCm39) |
small insertion |
probably benign |
|
RF045:Arid1b
|
UTSW |
17 |
5,045,858 (GRCm39) |
small insertion |
probably benign |
|
RF046:Arid1b
|
UTSW |
17 |
5,045,865 (GRCm39) |
small insertion |
probably benign |
|
RF058:Arid1b
|
UTSW |
17 |
5,045,858 (GRCm39) |
small insertion |
probably benign |
|
X0023:Arid1b
|
UTSW |
17 |
5,392,668 (GRCm39) |
missense |
probably benign |
0.39 |
X0027:Arid1b
|
UTSW |
17 |
5,392,647 (GRCm39) |
nonsense |
probably null |
|
Z1177:Arid1b
|
UTSW |
17 |
5,046,603 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAAGGTGACCTCATGCTGACTG -3'
(R):5'- CCTCCCACCATGCATTTTGGAGAAC -3'
Sequencing Primer
(F):5'- TCAAGGCCACTGACTATTGG -3'
(R):5'- GAGAACGTCTTGCTTTGTTACC -3'
|
Posted On |
2014-05-23 |