Incidental Mutation 'IGL02727:Bicra'
ID |
305250 |
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: 0.212)
|
Stock # |
IGL02727
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 15713390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 937
(H937Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094821]
[ENSMUST00000210781]
|
AlphaFold |
F8VPZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094821
AA Change: H937Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092416 Gene: ENSMUSG00000070808 AA Change: H937Q
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 |
possibly damaging
Transcript: ENSMUST00000210781
AA Change: H937Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
C |
1: 53,226,724 (GRCm39) |
T13A |
probably benign |
Het |
Aldh1l2 |
T |
A |
10: 83,342,469 (GRCm39) |
K447I |
probably damaging |
Het |
Ankrd17 |
A |
G |
5: 90,392,151 (GRCm39) |
S1840P |
possibly damaging |
Het |
Ash1l |
A |
G |
3: 88,930,344 (GRCm39) |
I1940M |
probably benign |
Het |
Bfar |
T |
G |
16: 13,506,791 (GRCm39) |
|
probably null |
Het |
Brip1 |
A |
T |
11: 86,043,562 (GRCm39) |
M334K |
probably benign |
Het |
Camsap2 |
T |
G |
1: 136,232,050 (GRCm39) |
M182L |
probably benign |
Het |
Chd6 |
A |
T |
2: 160,811,383 (GRCm39) |
C1407S |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,234,753 (GRCm39) |
S112P |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 16,281,341 (GRCm39) |
V728E |
probably damaging |
Het |
Cyp2j6 |
T |
A |
4: 96,434,001 (GRCm39) |
Q103L |
probably benign |
Het |
Ddias |
A |
T |
7: 92,515,830 (GRCm39) |
I21K |
probably damaging |
Het |
Derl2 |
A |
C |
11: 70,904,036 (GRCm39) |
|
probably benign |
Het |
Dgka |
A |
T |
10: 128,558,317 (GRCm39) |
|
probably benign |
Het |
Dusp11 |
T |
C |
6: 85,938,474 (GRCm39) |
D15G |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,773,577 (GRCm39) |
D110G |
probably damaging |
Het |
Fkbp11 |
A |
T |
15: 98,622,471 (GRCm39) |
V134E |
probably damaging |
Het |
Gm3248 |
T |
C |
14: 5,945,036 (GRCm38) |
T49A |
probably damaging |
Het |
Gm57858 |
T |
A |
3: 36,087,065 (GRCm39) |
R176S |
possibly damaging |
Het |
Irag2 |
T |
C |
6: 145,120,344 (GRCm39) |
S520P |
possibly damaging |
Het |
Luzp2 |
T |
C |
7: 54,821,939 (GRCm39) |
|
probably benign |
Het |
Manea |
C |
A |
4: 26,328,127 (GRCm39) |
E305* |
probably null |
Het |
Manea |
T |
A |
4: 26,328,126 (GRCm39) |
E305V |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,337,606 (GRCm39) |
|
probably null |
Het |
Mrpl3 |
G |
T |
9: 104,931,726 (GRCm39) |
D59Y |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,675,942 (GRCm39) |
Y248C |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,468,353 (GRCm39) |
|
probably benign |
Het |
Or10a5 |
G |
T |
7: 106,635,902 (GRCm39) |
C180F |
probably damaging |
Het |
Or1f19 |
T |
A |
16: 3,411,190 (GRCm39) |
I310K |
probably benign |
Het |
Or2y1c |
G |
T |
11: 49,361,893 (GRCm39) |
G305V |
probably benign |
Het |
Or8b40 |
A |
G |
9: 38,027,808 (GRCm39) |
T239A |
probably damaging |
Het |
Pax8 |
C |
A |
2: 24,331,642 (GRCm39) |
C147F |
probably damaging |
Het |
Phf12 |
T |
C |
11: 77,914,493 (GRCm39) |
V96A |
possibly damaging |
Het |
Psg18 |
A |
T |
7: 18,079,875 (GRCm39) |
I442K |
probably damaging |
Het |
Pygl |
T |
A |
12: 70,254,442 (GRCm39) |
|
probably null |
Het |
Rassf2 |
C |
A |
2: 131,846,307 (GRCm39) |
R150L |
probably benign |
Het |
Rdh7 |
A |
T |
10: 127,723,487 (GRCm39) |
W123R |
probably damaging |
Het |
Saal1 |
T |
C |
7: 46,339,223 (GRCm39) |
|
probably null |
Het |
Sall1 |
T |
C |
8: 89,757,383 (GRCm39) |
D907G |
probably damaging |
Het |
Spag1 |
T |
A |
15: 36,234,964 (GRCm39) |
F876I |
probably damaging |
Het |
Syncrip |
G |
A |
9: 88,361,932 (GRCm39) |
A61V |
probably damaging |
Het |
Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
Vmn1r178 |
A |
G |
7: 23,593,871 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
T |
C |
10: 130,229,995 (GRCm39) |
D39G |
possibly 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 |
IGL03031:Bicra
|
APN |
7 |
15,709,726 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
2015-04-16 |