Incidental Mutation 'IGL03031:Bicra'
| ID |
408460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bicra
|
| Ensembl Gene |
ENSMUSG00000070808 |
| Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
| Synonyms |
Gltscr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL03031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15709726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1097
(H1097Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094821]
[ENSMUST00000210781]
|
| AlphaFold |
F8VPZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094821
AA Change: H1097Q
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: H1097Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
156 |
298 |
1.03e-6 |
PROSPERO |
|
low complexity region
|
308 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
443 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
479 |
614 |
1.03e-6 |
PROSPERO |
|
low complexity region
|
619 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
987 |
1006 |
N/A |
INTRINSIC |
|
Pfam:GLTSCR1
|
1094 |
1202 |
4.6e-43 |
PFAM |
|
low complexity region
|
1232 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1294 |
N/A |
INTRINSIC |
|
low complexity region
|
1349 |
1371 |
N/A |
INTRINSIC |
|
low complexity region
|
1460 |
1473 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210781
AA Change: H1097Q
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,183 (GRCm39) |
D753G |
probably benign |
Het |
| Adat2 |
T |
C |
10: 13,432,590 (GRCm39) |
|
probably benign |
Het |
| Ahsa2 |
A |
G |
11: 23,440,426 (GRCm39) |
L275S |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,837,828 (GRCm39) |
D118N |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,950,104 (GRCm39) |
T1389A |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,535 (GRCm39) |
S194G |
probably benign |
Het |
| Chgb |
C |
A |
2: 132,635,434 (GRCm39) |
Q459K |
probably benign |
Het |
| Clvs1 |
G |
T |
4: 9,449,385 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,492,923 (GRCm39) |
G186R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,553,975 (GRCm39) |
|
probably benign |
Het |
| Epsti1 |
G |
A |
14: 78,212,021 (GRCm39) |
R249K |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,952,025 (GRCm39) |
Y90* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,980 (GRCm39) |
R274G |
probably damaging |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,486,857 (GRCm39) |
T3284M |
possibly damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,892,522 (GRCm39) |
M245T |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,882 (GRCm39) |
V281A |
possibly damaging |
Het |
| Med18 |
G |
T |
4: 132,186,924 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,704 (GRCm39) |
V3A |
probably benign |
Het |
| Mpped2 |
G |
T |
2: 106,613,968 (GRCm39) |
|
probably benign |
Het |
| Ms4a10 |
A |
G |
19: 10,946,035 (GRCm39) |
V32A |
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,968,601 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,097,213 (GRCm39) |
Q422L |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,085,721 (GRCm39) |
Q819L |
possibly damaging |
Het |
| Ncoa1 |
G |
A |
12: 4,324,818 (GRCm39) |
T921I |
possibly damaging |
Het |
| Or10d4b |
A |
G |
9: 39,534,694 (GRCm39) |
I92V |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,238 (GRCm39) |
L27P |
possibly damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,361 (GRCm39) |
T81P |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,734 (GRCm39) |
S1742P |
probably benign |
Het |
| Plxdc2 |
G |
A |
2: 16,655,043 (GRCm39) |
|
probably null |
Het |
| Poc5 |
A |
G |
13: 96,538,123 (GRCm39) |
T263A |
probably benign |
Het |
| Prss41 |
T |
A |
17: 24,061,396 (GRCm39) |
I132F |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,195 (GRCm39) |
I329T |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,466,464 (GRCm39) |
|
probably null |
Het |
| Rnps1-ps |
T |
C |
6: 7,982,857 (GRCm39) |
|
noncoding transcript |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,411 (GRCm39) |
V882E |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,996,249 (GRCm39) |
E776G |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,449,638 (GRCm39) |
I207V |
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,817,664 (GRCm39) |
F123L |
probably benign |
Het |
| Spats2 |
A |
G |
15: 99,078,569 (GRCm39) |
T211A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,656,148 (GRCm39) |
M1K |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,225,585 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tecta |
A |
C |
9: 42,256,789 (GRCm39) |
M1629R |
probably benign |
Het |
| Ufsp2 |
T |
A |
8: 46,437,137 (GRCm39) |
I101N |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,368 (GRCm39) |
C892S |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,874,361 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,208,381 (GRCm39) |
V167E |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,862,608 (GRCm39) |
L588P |
probably damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,621,595 (GRCm39) |
T267A |
probably damaging |
Het |
|
| Other mutations in Bicra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Bicra
|
APN |
7 |
15,730,502 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01521:Bicra
|
APN |
7 |
15,723,113 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01690:Bicra
|
APN |
7 |
15,721,678 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01721:Bicra
|
APN |
7 |
15,722,624 (GRCm39) |
missense |
probably benign |
|
|
IGL01994:Bicra
|
APN |
7 |
15,706,741 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02084:Bicra
|
APN |
7 |
15,721,663 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02312:Bicra
|
APN |
7 |
15,727,066 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02686:Bicra
|
APN |
7 |
15,721,840 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02727:Bicra
|
APN |
7 |
15,713,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0003:Bicra
|
UTSW |
7 |
15,705,812 (GRCm39) |
missense |
probably benign |
|
|
R0025:Bicra
|
UTSW |
7 |
15,721,436 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0241:Bicra
|
UTSW |
7 |
15,709,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Bicra
|
UTSW |
7 |
15,709,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Bicra
|
UTSW |
7 |
15,706,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Bicra
|
UTSW |
7 |
15,722,687 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0547:Bicra
|
UTSW |
7 |
15,706,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Bicra
|
UTSW |
7 |
15,723,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Bicra
|
UTSW |
7 |
15,705,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Bicra
|
UTSW |
7 |
15,722,284 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1637:Bicra
|
UTSW |
7 |
15,706,614 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1899:Bicra
|
UTSW |
7 |
15,721,676 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2035:Bicra
|
UTSW |
7 |
15,730,338 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2247:Bicra
|
UTSW |
7 |
15,723,159 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2471:Bicra
|
UTSW |
7 |
15,706,257 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2484:Bicra
|
UTSW |
7 |
15,722,605 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3437:Bicra
|
UTSW |
7 |
15,723,223 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3551:Bicra
|
UTSW |
7 |
15,713,658 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4816:Bicra
|
UTSW |
7 |
15,722,831 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4901:Bicra
|
UTSW |
7 |
15,721,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5035:Bicra
|
UTSW |
7 |
15,713,349 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5078:Bicra
|
UTSW |
7 |
15,709,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5094:Bicra
|
UTSW |
7 |
15,709,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Bicra
|
UTSW |
7 |
15,713,878 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5496:Bicra
|
UTSW |
7 |
15,721,766 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5780:Bicra
|
UTSW |
7 |
15,713,679 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6541:Bicra
|
UTSW |
7 |
15,713,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6560:Bicra
|
UTSW |
7 |
15,723,119 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6575:Bicra
|
UTSW |
7 |
15,713,056 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6854:Bicra
|
UTSW |
7 |
15,722,687 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6967:Bicra
|
UTSW |
7 |
15,706,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7283:Bicra
|
UTSW |
7 |
15,706,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Bicra
|
UTSW |
7 |
15,706,059 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7462:Bicra
|
UTSW |
7 |
15,713,060 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7488:Bicra
|
UTSW |
7 |
15,723,367 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7506:Bicra
|
UTSW |
7 |
15,722,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7534:Bicra
|
UTSW |
7 |
15,705,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7915:Bicra
|
UTSW |
7 |
15,722,447 (GRCm39) |
missense |
probably benign |
|
|
R8063:Bicra
|
UTSW |
7 |
15,712,969 (GRCm39) |
missense |
probably benign |
|
|
R8147:Bicra
|
UTSW |
7 |
15,722,395 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8699:Bicra
|
UTSW |
7 |
15,723,113 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8784:Bicra
|
UTSW |
7 |
15,705,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Bicra
|
UTSW |
7 |
15,721,737 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8971:Bicra
|
UTSW |
7 |
15,721,481 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9487:Bicra
|
UTSW |
7 |
15,705,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9614:Bicra
|
UTSW |
7 |
15,705,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Bicra
|
UTSW |
7 |
15,713,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Bicra
|
UTSW |
7 |
15,705,987 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0064:Bicra
|
UTSW |
7 |
15,709,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation