Incidental Mutation 'R8872:Nrap'
ID |
676401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrap
|
Ensembl Gene |
ENSMUSG00000049134 |
Gene Name |
nebulin-related anchoring protein |
Synonyms |
|
MMRRC Submission |
068743-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8872 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 56308627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 1729
(*1729W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000078284]
[ENSMUST00000095947]
[ENSMUST00000095948]
[ENSMUST00000163502]
[ENSMUST00000165522]
[ENSMUST00000166049]
[ENSMUST00000166203]
[ENSMUST00000167239]
[ENSMUST00000171341]
|
AlphaFold |
Q80XB4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040711
AA Change: *1694W
|
SMART Domains |
Protein: ENSMUSP00000048364 Gene: ENSMUSG00000049134 AA Change: *1694W
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
NEBU
|
932 |
962 |
4e-6 |
SMART |
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
NEBU
|
1385 |
1415 |
1.76e-2 |
SMART |
NEBU
|
1418 |
1448 |
2.09e0 |
SMART |
NEBU
|
1453 |
1483 |
6.4e-5 |
SMART |
NEBU
|
1489 |
1519 |
8.63e-1 |
SMART |
NEBU
|
1527 |
1557 |
1.33e-2 |
SMART |
NEBU
|
1562 |
1592 |
1.84e-5 |
SMART |
NEBU
|
1593 |
1623 |
7.24e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000073536
AA Change: *1729W
|
SMART Domains |
Protein: ENSMUSP00000073228 Gene: ENSMUSG00000049134 AA Change: *1729W
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
NEBU
|
520 |
550 |
1.73e-10 |
SMART |
NEBU
|
556 |
586 |
8.12e-7 |
SMART |
NEBU
|
590 |
620 |
1.73e-1 |
SMART |
NEBU
|
625 |
655 |
2.33e-7 |
SMART |
NEBU
|
656 |
686 |
1.49e-5 |
SMART |
NEBU
|
690 |
721 |
5.12e-4 |
SMART |
NEBU
|
724 |
754 |
8.12e-7 |
SMART |
NEBU
|
759 |
789 |
2.64e-6 |
SMART |
NEBU
|
795 |
825 |
3.48e-6 |
SMART |
NEBU
|
833 |
863 |
2.35e-3 |
SMART |
NEBU
|
868 |
898 |
6.11e-2 |
SMART |
NEBU
|
899 |
929 |
1.69e-4 |
SMART |
NEBU
|
934 |
964 |
3.88e-4 |
SMART |
NEBU
|
967 |
997 |
4e-6 |
SMART |
NEBU
|
1002 |
1032 |
4.22e-5 |
SMART |
NEBU
|
1038 |
1068 |
2.64e-6 |
SMART |
NEBU
|
1076 |
1106 |
3.68e-5 |
SMART |
NEBU
|
1111 |
1141 |
4.16e-4 |
SMART |
NEBU
|
1142 |
1172 |
1.1e-3 |
SMART |
NEBU
|
1177 |
1207 |
1.68e1 |
SMART |
NEBU
|
1210 |
1240 |
4.59e-6 |
SMART |
NEBU
|
1245 |
1275 |
4.06e-7 |
SMART |
NEBU
|
1281 |
1311 |
1.99e-1 |
SMART |
NEBU
|
1319 |
1349 |
1.85e-1 |
SMART |
NEBU
|
1354 |
1384 |
1.39e-5 |
SMART |
NEBU
|
1385 |
1415 |
4.03e-2 |
SMART |
NEBU
|
1420 |
1450 |
1.76e-2 |
SMART |
NEBU
|
1453 |
1483 |
2.09e0 |
SMART |
NEBU
|
1488 |
1518 |
6.4e-5 |
SMART |
NEBU
|
1524 |
1554 |
8.63e-1 |
SMART |
NEBU
|
1562 |
1592 |
1.33e-2 |
SMART |
NEBU
|
1597 |
1627 |
1.84e-5 |
SMART |
NEBU
|
1628 |
1658 |
7.24e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078284
|
SMART Domains |
Protein: ENSMUSP00000077402 Gene: ENSMUSG00000025075
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
EGF
|
70 |
103 |
4.66e-6 |
SMART |
EGF
|
108 |
142 |
3.97e0 |
SMART |
EGF
|
147 |
182 |
2.26e-4 |
SMART |
KR
|
186 |
272 |
2.72e-39 |
SMART |
Tryp_SPc
|
307 |
544 |
1.47e-90 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000095947
AA Change: *1612W
|
SMART Domains |
Protein: ENSMUSP00000093640 Gene: ENSMUSG00000049134 AA Change: *1612W
Domain | Start | End | E-Value | Type |
NEBU
|
86 |
115 |
1.2e-6 |
SMART |
NEBU
|
120 |
150 |
9.1e-8 |
SMART |
NEBU
|
157 |
186 |
1.4e-6 |
SMART |
NEBU
|
226 |
255 |
1.8e-8 |
SMART |
NEBU
|
264 |
294 |
2.5e-5 |
SMART |
NEBU
|
300 |
330 |
7.8e-6 |
SMART |
NEBU
|
368 |
398 |
6e-11 |
SMART |
NEBU
|
403 |
433 |
1.1e-12 |
SMART |
NEBU
|
439 |
469 |
5.2e-9 |
SMART |
NEBU
|
473 |
503 |
1.1e-3 |
SMART |
NEBU
|
508 |
538 |
1.5e-9 |
SMART |
NEBU
|
539 |
569 |
1e-7 |
SMART |
NEBU
|
573 |
604 |
3.3e-6 |
SMART |
NEBU
|
607 |
637 |
5.4e-9 |
SMART |
NEBU
|
642 |
672 |
1.7e-8 |
SMART |
NEBU
|
678 |
708 |
2.3e-8 |
SMART |
NEBU
|
716 |
746 |
1.5e-5 |
SMART |
NEBU
|
751 |
781 |
4.1e-4 |
SMART |
NEBU
|
782 |
812 |
1.1e-6 |
SMART |
NEBU
|
817 |
847 |
2.6e-6 |
SMART |
NEBU
|
850 |
880 |
2.6e-8 |
SMART |
NEBU
|
885 |
915 |
2.7e-7 |
SMART |
NEBU
|
921 |
951 |
1.7e-8 |
SMART |
NEBU
|
959 |
989 |
2.4e-7 |
SMART |
NEBU
|
994 |
1024 |
2.7e-6 |
SMART |
NEBU
|
1025 |
1055 |
7.2e-6 |
SMART |
NEBU
|
1060 |
1090 |
1.1e-1 |
SMART |
NEBU
|
1093 |
1123 |
3e-8 |
SMART |
NEBU
|
1128 |
1158 |
2.6e-9 |
SMART |
NEBU
|
1164 |
1194 |
1.3e-3 |
SMART |
NEBU
|
1202 |
1232 |
1.2e-3 |
SMART |
NEBU
|
1237 |
1267 |
8.8e-8 |
SMART |
NEBU
|
1268 |
1298 |
2.7e-4 |
SMART |
NEBU
|
1303 |
1333 |
1.2e-4 |
SMART |
NEBU
|
1336 |
1366 |
1.4e-2 |
SMART |
NEBU
|
1371 |
1401 |
4.3e-7 |
SMART |
NEBU
|
1407 |
1437 |
5.6e-3 |
SMART |
NEBU
|
1445 |
1475 |
8.8e-5 |
SMART |
NEBU
|
1480 |
1510 |
1.2e-7 |
SMART |
NEBU
|
1511 |
1541 |
4.8e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095948
|
SMART Domains |
Protein: ENSMUSP00000093641 Gene: ENSMUSG00000025075
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
33 |
66 |
4.66e-6 |
SMART |
EGF
|
71 |
105 |
3.97e0 |
SMART |
EGF
|
110 |
145 |
2.26e-4 |
SMART |
KR
|
149 |
235 |
2.72e-39 |
SMART |
Tryp_SPc
|
270 |
507 |
1.47e-90 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163502
|
SMART Domains |
Protein: ENSMUSP00000128964 Gene: ENSMUSG00000025075
Domain | Start | End | E-Value | Type |
KR
|
1 |
41 |
5.87e-6 |
SMART |
Tryp_SPc
|
76 |
220 |
5.6e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165522
|
SMART Domains |
Protein: ENSMUSP00000130809 Gene: ENSMUSG00000025075
Domain | Start | End | E-Value | Type |
Pfam:Trypsin
|
41 |
106 |
6.4e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166049
|
SMART Domains |
Protein: ENSMUSP00000132444 Gene: ENSMUSG00000025075
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
EGF
|
70 |
103 |
4.66e-6 |
SMART |
EGF
|
108 |
142 |
3.97e0 |
SMART |
EGF
|
147 |
182 |
2.26e-4 |
SMART |
KR
|
186 |
272 |
2.72e-39 |
SMART |
Tryp_SPc
|
302 |
539 |
1.47e-90 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166203
AA Change: *1693W
|
SMART Domains |
Protein: ENSMUSP00000132582 Gene: ENSMUSG00000049134 AA Change: *1693W
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
NEBU
|
520 |
550 |
1.06e-10 |
SMART |
NEBU
|
554 |
584 |
1.73e-1 |
SMART |
NEBU
|
589 |
619 |
2.33e-7 |
SMART |
NEBU
|
620 |
650 |
1.49e-5 |
SMART |
NEBU
|
654 |
685 |
5.12e-4 |
SMART |
NEBU
|
688 |
718 |
8.12e-7 |
SMART |
NEBU
|
723 |
753 |
2.64e-6 |
SMART |
NEBU
|
759 |
789 |
3.48e-6 |
SMART |
NEBU
|
797 |
827 |
2.35e-3 |
SMART |
NEBU
|
832 |
862 |
6.11e-2 |
SMART |
NEBU
|
863 |
893 |
1.69e-4 |
SMART |
NEBU
|
898 |
928 |
3.88e-4 |
SMART |
NEBU
|
931 |
961 |
4e-6 |
SMART |
NEBU
|
966 |
996 |
4.22e-5 |
SMART |
NEBU
|
1002 |
1032 |
2.64e-6 |
SMART |
NEBU
|
1040 |
1070 |
3.68e-5 |
SMART |
NEBU
|
1075 |
1105 |
4.16e-4 |
SMART |
NEBU
|
1106 |
1136 |
1.1e-3 |
SMART |
NEBU
|
1141 |
1171 |
1.68e1 |
SMART |
NEBU
|
1174 |
1204 |
4.59e-6 |
SMART |
NEBU
|
1209 |
1239 |
4.06e-7 |
SMART |
NEBU
|
1245 |
1275 |
1.99e-1 |
SMART |
NEBU
|
1283 |
1313 |
1.85e-1 |
SMART |
NEBU
|
1318 |
1348 |
1.39e-5 |
SMART |
NEBU
|
1349 |
1379 |
4.03e-2 |
SMART |
NEBU
|
1384 |
1414 |
1.76e-2 |
SMART |
NEBU
|
1417 |
1447 |
2.09e0 |
SMART |
NEBU
|
1452 |
1482 |
6.4e-5 |
SMART |
NEBU
|
1488 |
1518 |
8.63e-1 |
SMART |
NEBU
|
1526 |
1556 |
1.33e-2 |
SMART |
NEBU
|
1561 |
1591 |
1.84e-5 |
SMART |
NEBU
|
1592 |
1622 |
7.24e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167239
AA Change: *1486W
|
SMART Domains |
Protein: ENSMUSP00000128196 Gene: ENSMUSG00000049134 AA Change: *1486W
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
NEBU
|
932 |
962 |
4e-6 |
SMART |
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
NEBU
|
1385 |
1415 |
3.06e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169099
|
SMART Domains |
Protein: ENSMUSP00000125889 Gene: ENSMUSG00000049134
Domain | Start | End | E-Value | Type |
NEBU
|
32 |
61 |
2.83e-6 |
SMART |
NEBU
|
70 |
100 |
7.24e-4 |
SMART |
NEBU
|
105 |
135 |
3.46e-1 |
SMART |
NEBU
|
141 |
171 |
1.18e-3 |
SMART |
NEBU
|
209 |
239 |
8.97e-9 |
SMART |
NEBU
|
244 |
274 |
1.73e-10 |
SMART |
NEBU
|
280 |
310 |
8.12e-7 |
SMART |
NEBU
|
314 |
344 |
1.73e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171341
|
SMART Domains |
Protein: ENSMUSP00000126235 Gene: ENSMUSG00000025075
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
EGF
|
70 |
103 |
4.66e-6 |
SMART |
EGF
|
108 |
142 |
3.97e0 |
SMART |
EGF
|
147 |
182 |
2.26e-4 |
SMART |
KR
|
186 |
272 |
2.72e-39 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,401,164 (GRCm39) |
S150G |
possibly damaging |
Het |
Alpk2 |
A |
T |
18: 65,413,977 (GRCm39) |
S1579R |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,791,525 (GRCm39) |
E814K |
possibly damaging |
Het |
Cep57 |
A |
G |
9: 13,737,980 (GRCm39) |
|
probably benign |
Het |
Cntnap4 |
A |
T |
8: 113,585,759 (GRCm39) |
R1127S |
possibly damaging |
Het |
Comt |
C |
A |
16: 18,245,239 (GRCm39) |
|
probably benign |
Het |
Crlf3 |
T |
C |
11: 79,938,440 (GRCm39) |
N399S |
|
Het |
Crls1 |
T |
A |
2: 132,691,819 (GRCm39) |
S115T |
probably benign |
Het |
Dixdc1 |
A |
G |
9: 50,614,453 (GRCm39) |
S199P |
possibly damaging |
Het |
Dsc3 |
T |
C |
18: 20,122,679 (GRCm39) |
T82A |
probably benign |
Het |
Efcab3 |
T |
G |
11: 104,760,880 (GRCm39) |
L2411R |
probably benign |
Het |
Exosc6 |
T |
A |
8: 111,783,784 (GRCm39) |
V261E |
probably damaging |
Het |
Fbxw17 |
C |
T |
13: 50,586,300 (GRCm39) |
S361L |
probably benign |
Het |
Gfap |
T |
A |
11: 102,786,620 (GRCm39) |
N157Y |
possibly damaging |
Het |
Gigyf2 |
A |
T |
1: 87,307,725 (GRCm39) |
D177V |
unknown |
Het |
Gls2 |
A |
T |
10: 128,040,535 (GRCm39) |
Q312L |
probably benign |
Het |
Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
Greb1l |
A |
T |
18: 10,529,684 (GRCm39) |
M889L |
probably benign |
Het |
Gucy1a1 |
T |
A |
3: 82,016,049 (GRCm39) |
D313V |
probably damaging |
Het |
H2-T5 |
T |
A |
17: 36,476,293 (GRCm39) |
I324F |
probably benign |
Het |
Herpud1 |
C |
T |
8: 95,113,213 (GRCm39) |
|
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Il27 |
A |
C |
7: 126,190,194 (GRCm39) |
L140R |
probably damaging |
Het |
Jarid2 |
T |
C |
13: 45,055,984 (GRCm39) |
S397P |
possibly damaging |
Het |
Kdm5a |
A |
C |
6: 120,365,101 (GRCm39) |
D334A |
probably damaging |
Het |
Lman2 |
T |
C |
13: 55,496,197 (GRCm39) |
T283A |
probably benign |
Het |
Lrfn2 |
C |
T |
17: 49,378,277 (GRCm39) |
Q453* |
probably null |
Het |
Lrrfip2 |
A |
G |
9: 111,034,824 (GRCm39) |
E171G |
possibly damaging |
Het |
Mboat1 |
T |
A |
13: 30,410,397 (GRCm39) |
Y285N |
probably damaging |
Het |
Med15 |
C |
A |
16: 17,470,605 (GRCm39) |
S734I |
probably damaging |
Het |
Mgat4c |
T |
A |
10: 102,224,146 (GRCm39) |
I120N |
probably damaging |
Het |
Ms4a4d |
T |
C |
19: 11,530,251 (GRCm39) |
M104T |
possibly damaging |
Het |
Mtf2 |
A |
T |
5: 108,247,051 (GRCm39) |
M330L |
probably benign |
Het |
Myoc |
T |
C |
1: 162,475,013 (GRCm39) |
V188A |
probably benign |
Het |
Nos2 |
T |
A |
11: 78,839,949 (GRCm39) |
I686N |
probably damaging |
Het |
Npffr1 |
T |
C |
10: 61,461,794 (GRCm39) |
V310A |
probably benign |
Het |
Odam |
A |
G |
5: 88,035,797 (GRCm39) |
|
probably null |
Het |
Olfm4 |
G |
T |
14: 80,258,943 (GRCm39) |
R397L |
probably damaging |
Het |
Or1p1c |
T |
G |
11: 74,160,120 (GRCm39) |
|
probably benign |
Het |
Polr1b |
T |
C |
2: 128,957,613 (GRCm39) |
V556A |
probably damaging |
Het |
Prl3d3 |
A |
G |
13: 27,346,324 (GRCm39) |
D186G |
possibly damaging |
Het |
Psmc5 |
C |
A |
11: 106,152,746 (GRCm39) |
Y189* |
probably null |
Het |
Rasgrp4 |
A |
G |
7: 28,838,521 (GRCm39) |
Y123C |
possibly damaging |
Het |
Rtn4 |
A |
G |
11: 29,658,633 (GRCm39) |
E929G |
probably benign |
Het |
Scrn2 |
A |
T |
11: 96,922,961 (GRCm39) |
I135F |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,148,585 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
T |
C |
2: 125,594,892 (GRCm39) |
T523A |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,333,326 (GRCm39) |
L1525P |
probably damaging |
Het |
Slain1 |
T |
A |
14: 103,925,841 (GRCm39) |
|
probably null |
Het |
Slc22a29 |
A |
G |
19: 8,137,931 (GRCm39) |
V548A |
probably damaging |
Het |
Slc25a32 |
T |
C |
15: 38,969,339 (GRCm39) |
I65V |
probably benign |
Het |
Slc30a7 |
A |
T |
3: 115,740,317 (GRCm39) |
M378K |
possibly damaging |
Het |
Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,128,619 (GRCm39) |
S1464T |
probably benign |
Het |
Spdye4b |
G |
T |
5: 143,187,815 (GRCm39) |
K156N |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,658,813 (GRCm39) |
Y1241H |
probably benign |
Het |
Ssu2 |
G |
A |
6: 112,357,956 (GRCm39) |
T129I |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,411,544 (GRCm39) |
V613A |
probably benign |
Het |
Sycp3 |
A |
T |
10: 88,302,388 (GRCm39) |
E126V |
probably damaging |
Het |
Tatdn2 |
A |
T |
6: 113,681,170 (GRCm39) |
Y401F |
probably damaging |
Het |
Tigd4 |
T |
C |
3: 84,501,547 (GRCm39) |
S155P |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,802,290 (GRCm39) |
N1502S |
probably benign |
Het |
Ttf2 |
A |
G |
3: 100,870,644 (GRCm39) |
V143A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,618,747 (GRCm39) |
D16179V |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,488,401 (GRCm39) |
M666K |
probably benign |
Het |
Vwa5b1 |
A |
T |
4: 138,305,956 (GRCm39) |
V914D |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,210,960 (GRCm39) |
M1632V |
probably benign |
Het |
Zbtb26 |
T |
A |
2: 37,326,913 (GRCm39) |
N41I |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,020,412 (GRCm39) |
N144D |
probably damaging |
Het |
Zfp266 |
A |
T |
9: 20,411,275 (GRCm39) |
C301S |
probably benign |
Het |
Zfp580 |
A |
G |
7: 5,056,216 (GRCm39) |
H192R |
possibly damaging |
Het |
Zfp748 |
A |
G |
13: 67,689,914 (GRCm39) |
C449R |
probably damaging |
Het |
Zp2 |
T |
C |
7: 119,733,025 (GRCm39) |
I612V |
probably benign |
Het |
|
Other mutations in Nrap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Nrap
|
APN |
19 |
56,361,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00570:Nrap
|
APN |
19 |
56,326,545 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00946:Nrap
|
APN |
19 |
56,329,058 (GRCm39) |
splice site |
probably null |
|
IGL01070:Nrap
|
APN |
19 |
56,317,516 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01111:Nrap
|
APN |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Nrap
|
APN |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01290:Nrap
|
APN |
19 |
56,350,180 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01352:Nrap
|
APN |
19 |
56,368,268 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01372:Nrap
|
APN |
19 |
56,317,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01395:Nrap
|
APN |
19 |
56,350,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01413:Nrap
|
APN |
19 |
56,377,823 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01734:Nrap
|
APN |
19 |
56,338,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Nrap
|
APN |
19 |
56,377,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Nrap
|
APN |
19 |
56,309,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02415:Nrap
|
APN |
19 |
56,370,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02447:Nrap
|
APN |
19 |
56,333,951 (GRCm39) |
nonsense |
probably null |
|
IGL02864:Nrap
|
APN |
19 |
56,338,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02993:Nrap
|
APN |
19 |
56,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03003:Nrap
|
APN |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03006:Nrap
|
APN |
19 |
56,335,596 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03084:Nrap
|
APN |
19 |
56,353,886 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Nrap
|
APN |
19 |
56,330,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03272:Nrap
|
APN |
19 |
56,334,000 (GRCm39) |
intron |
probably benign |
|
IGL03389:Nrap
|
APN |
19 |
56,340,148 (GRCm39) |
missense |
probably benign |
0.10 |
R0116:Nrap
|
UTSW |
19 |
56,343,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Nrap
|
UTSW |
19 |
56,340,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Nrap
|
UTSW |
19 |
56,345,757 (GRCm39) |
missense |
probably damaging |
0.98 |
R0828:Nrap
|
UTSW |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Nrap
|
UTSW |
19 |
56,333,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Nrap
|
UTSW |
19 |
56,315,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1459:Nrap
|
UTSW |
19 |
56,372,562 (GRCm39) |
missense |
probably benign |
0.00 |
R1616:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Nrap
|
UTSW |
19 |
56,323,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Nrap
|
UTSW |
19 |
56,343,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R1766:Nrap
|
UTSW |
19 |
56,323,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R1792:Nrap
|
UTSW |
19 |
56,367,590 (GRCm39) |
missense |
probably benign |
0.00 |
R1817:Nrap
|
UTSW |
19 |
56,372,487 (GRCm39) |
unclassified |
probably benign |
|
R1972:Nrap
|
UTSW |
19 |
56,345,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Nrap
|
UTSW |
19 |
56,372,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R2258:Nrap
|
UTSW |
19 |
56,310,394 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2448:Nrap
|
UTSW |
19 |
56,310,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3034:Nrap
|
UTSW |
19 |
56,352,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R3804:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R3923:Nrap
|
UTSW |
19 |
56,368,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R3964:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3965:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3966:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3980:Nrap
|
UTSW |
19 |
56,369,984 (GRCm39) |
missense |
probably benign |
0.01 |
R4182:Nrap
|
UTSW |
19 |
56,338,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R4499:Nrap
|
UTSW |
19 |
56,339,913 (GRCm39) |
missense |
probably damaging |
0.97 |
R4573:Nrap
|
UTSW |
19 |
56,330,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4603:Nrap
|
UTSW |
19 |
56,323,456 (GRCm39) |
critical splice donor site |
probably null |
|
R4689:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
R4749:Nrap
|
UTSW |
19 |
56,368,669 (GRCm39) |
missense |
probably damaging |
0.96 |
R4845:Nrap
|
UTSW |
19 |
56,339,902 (GRCm39) |
missense |
probably benign |
0.16 |
R4937:Nrap
|
UTSW |
19 |
56,335,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Nrap
|
UTSW |
19 |
56,366,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R5156:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5181:Nrap
|
UTSW |
19 |
56,333,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5202:Nrap
|
UTSW |
19 |
56,323,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R5262:Nrap
|
UTSW |
19 |
56,308,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5301:Nrap
|
UTSW |
19 |
56,367,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5380:Nrap
|
UTSW |
19 |
56,370,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Nrap
|
UTSW |
19 |
56,310,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R5631:Nrap
|
UTSW |
19 |
56,342,553 (GRCm39) |
missense |
probably benign |
0.19 |
R5754:Nrap
|
UTSW |
19 |
56,377,916 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5799:Nrap
|
UTSW |
19 |
56,330,601 (GRCm39) |
nonsense |
probably null |
|
R5899:Nrap
|
UTSW |
19 |
56,329,006 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5910:Nrap
|
UTSW |
19 |
56,330,743 (GRCm39) |
missense |
probably benign |
0.00 |
R5994:Nrap
|
UTSW |
19 |
56,340,031 (GRCm39) |
nonsense |
probably null |
|
R6124:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
R6149:Nrap
|
UTSW |
19 |
56,377,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6182:Nrap
|
UTSW |
19 |
56,350,130 (GRCm39) |
missense |
probably benign |
|
R6245:Nrap
|
UTSW |
19 |
56,368,307 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6245:Nrap
|
UTSW |
19 |
56,342,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Nrap
|
UTSW |
19 |
56,308,630 (GRCm39) |
missense |
probably benign |
0.00 |
R6274:Nrap
|
UTSW |
19 |
56,350,153 (GRCm39) |
missense |
probably benign |
0.21 |
R6340:Nrap
|
UTSW |
19 |
56,335,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6547:Nrap
|
UTSW |
19 |
56,339,998 (GRCm39) |
missense |
probably benign |
0.00 |
R6734:Nrap
|
UTSW |
19 |
56,333,941 (GRCm39) |
missense |
probably damaging |
0.99 |
R6770:Nrap
|
UTSW |
19 |
56,370,969 (GRCm39) |
splice site |
probably null |
|
R6812:Nrap
|
UTSW |
19 |
56,340,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R6843:Nrap
|
UTSW |
19 |
56,368,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Nrap
|
UTSW |
19 |
56,333,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Nrap
|
UTSW |
19 |
56,366,567 (GRCm39) |
missense |
probably benign |
0.09 |
R7313:Nrap
|
UTSW |
19 |
56,330,700 (GRCm39) |
missense |
probably damaging |
0.97 |
R7515:Nrap
|
UTSW |
19 |
56,354,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7662:Nrap
|
UTSW |
19 |
56,308,715 (GRCm39) |
missense |
probably benign |
0.00 |
R7819:Nrap
|
UTSW |
19 |
56,323,720 (GRCm39) |
missense |
probably benign |
|
R7836:Nrap
|
UTSW |
19 |
56,338,729 (GRCm39) |
missense |
probably benign |
0.00 |
R7895:Nrap
|
UTSW |
19 |
56,342,584 (GRCm39) |
missense |
probably benign |
0.00 |
R8041:Nrap
|
UTSW |
19 |
56,352,768 (GRCm39) |
nonsense |
probably null |
|
R8046:Nrap
|
UTSW |
19 |
56,308,683 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8066:Nrap
|
UTSW |
19 |
56,342,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8129:Nrap
|
UTSW |
19 |
56,355,068 (GRCm39) |
splice site |
probably null |
|
R8188:Nrap
|
UTSW |
19 |
56,325,010 (GRCm39) |
nonsense |
probably null |
|
R8323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
R8353:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8693:Nrap
|
UTSW |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R8703:Nrap
|
UTSW |
19 |
56,323,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Nrap
|
UTSW |
19 |
56,352,843 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8980:Nrap
|
UTSW |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Nrap
|
UTSW |
19 |
56,340,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9229:Nrap
|
UTSW |
19 |
56,310,339 (GRCm39) |
missense |
probably benign |
0.01 |
R9235:Nrap
|
UTSW |
19 |
56,330,760 (GRCm39) |
nonsense |
probably null |
|
R9323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
R9327:Nrap
|
UTSW |
19 |
56,340,100 (GRCm39) |
missense |
probably benign |
0.25 |
R9329:Nrap
|
UTSW |
19 |
56,350,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R9468:Nrap
|
UTSW |
19 |
56,330,632 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9517:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
probably benign |
0.00 |
R9639:Nrap
|
UTSW |
19 |
56,333,948 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9657:Nrap
|
UTSW |
19 |
56,352,377 (GRCm39) |
missense |
probably benign |
0.27 |
R9709:Nrap
|
UTSW |
19 |
56,317,453 (GRCm39) |
missense |
probably benign |
0.08 |
R9709:Nrap
|
UTSW |
19 |
56,317,452 (GRCm39) |
missense |
probably damaging |
0.98 |
X0028:Nrap
|
UTSW |
19 |
56,323,652 (GRCm39) |
nonsense |
probably null |
|
Z1176:Nrap
|
UTSW |
19 |
56,333,949 (GRCm39) |
frame shift |
probably null |
|
Z1177:Nrap
|
UTSW |
19 |
56,333,196 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Nrap
|
UTSW |
19 |
56,326,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGCAGCCATCAGAGAGAAG -3'
(R):5'- TGTTTGCCGGGCATCTTAGC -3'
Sequencing Primer
(F):5'- GCCATCAGAGAGAAGCCCCC -3'
(R):5'- GGCATCTTAGCACGGCTTG -3'
|
Posted On |
2021-07-15 |