Incidental Mutation 'IGL00325:Arid1b'
ID |
3932 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arid1b
|
Ensembl Gene |
ENSMUSG00000069729 |
Gene Name |
AT-rich interaction domain 1B |
Synonyms |
9330189K18Rik, B230217J03Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.783)
|
Stock # |
IGL00325
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
5044607-5397931 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 5387385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 1613
(R1613S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092723]
[ENSMUST00000115797]
[ENSMUST00000115799]
[ENSMUST00000232180]
|
AlphaFold |
E9Q4N7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092723
AA Change: R1560S
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000090398 Gene: ENSMUSG00000069729 AA Change: R1560S
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 |
possibly damaging
Transcript: ENSMUST00000115797
AA Change: R1561S
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000111463 Gene: ENSMUSG00000069729 AA Change: R1561S
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 |
possibly damaging
Transcript: ENSMUST00000115799
AA Change: R1079S
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000111465 Gene: ENSMUSG00000069729 AA Change: R1079S
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 |
possibly damaging
Transcript: ENSMUST00000232180
AA Change: R1613S
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
Other mutations in Arid1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R1754:Arid1b
|
UTSW |
17 |
5,329,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
|
Protein Function and Prediction |
Arid1b encodes ARID1B (alternatively, ELD/OSA1) is in a small subset of SWI/SNF complexes that function in the remodeling of chromatin (1;2). The ARID1B protein has N-terminal alanine- and glutamine-rich regions, an ARID (AT-rich interaction domain), and 2 Eld/Osa homology domains (EHD1 and EHD2) in its C-terminal half (1;2). ARID1B has several LxxLL motifs that are proposed to facilitate the interaction of ARID1B with nuclear hormone receptors (2).
|
Expression/Localization |
RT-PCR ELISA detected variable ARID1B expression in all tissues examined (3). Highest expression was in skeletal muscle, followed by ovary, kidney, and most specific adult brain regions examined, and lowest expression was in testis (3). In situ hybridization of mouse embryonic day 16 embryos determined that ARID1B is highly expressed in select regions of the brain and in the retina (1). Western blot analysis detected ARID1B in all human tissues examined and in mouse brain (2). Immunocytochemistry determined that ARID1B is localized to the nuclei in transfected COS-7 cells (2).
|
Background |
Mutations in ARID1B are linked to autosomal dominant mental retardation 12 [OMIM: 614562; (4-6)].
|
References |
1. Nie, Z., Yan, Z., Chen, E. H., Sechi, S., Ling, C., Zhou, S., Xue, Y., Yang, D., Murray, D., Kanakubo, E., Cleary, M. L., and Wang, W. (2003) Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner. Mol Cell Biol. 23, 2942-2952.
2. Hurlstone, A. F., Olave, I. A., Barker, N., van Noort, M., and Clevers, H. (2002) Cloning and Characterization of hELD/OSA1, a Novel BRG1 Interacting Protein. Biochem J. 364, 255-264.
3. Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., and Ohara, O. (1999) Prediction of the Coding Sequences of Unidentified Human Genes. XV. the Complete Sequences of 100 New cDNA Clones from Brain which Code for Large Proteins in Vitro. DNA Res. 6, 337-345.
4. Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., Kato, M., Hiraki, Y., Yamagata, T., Yano, S., Mizuno, S., Sakazume, S., Ishii, T., Nagai, T., Shiina, M., Ogata, K., Ohta, T., Niikawa, N., Miyatake, S., Okada, I., Mizuguchi, T., Doi, H., Saitsu, H., Miyake, N., and Matsumoto, N. (2012) Mutations Affecting Components of the SWI/SNF Complex Cause Coffin-Siris Syndrome. Nat Genet. 44, 376-378.
5. Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., Zweier, M., Gohring, I., Zink, A. M., Rappold, G., Schrock, E., Wieczorek, D., Riess, O., Engels, H., Rauch, A., and Reis, A. (2012) Haploinsufficiency of ARID1B, a Member of the SWI/SNF-a Chromatin-Remodeling Complex, is a Frequent Cause of Intellectual Disability. Am J Hum Genet. 90, 565-572.
6. Santen, G. W., Aten, E., Sun, Y., Almomani, R., Gilissen, C., Nielsen, M., Kant, S. G., Snoeck, I. N., Peeters, E. A., Hilhorst-Hofstee, Y., Wessels, M. W., den Hollander, N. S., Ruivenkamp, C. A., van Ommen, G. J., Breuning, M. H., den Dunnen, J. T., van Haeringen, A., and Kriek, M. (2012) Mutations in SWI/SNF Chromatin Remodeling Complex Gene ARID1B Cause Coffin-Siris Syndrome. Nat Genet. 44, 379-380.
|
Posted On |
2012-04-20 |
Science Writer |
Anne Murray |