Incidental Mutation 'R8063:Bicra'
| ID |
619850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicra
|
| Ensembl Gene |
ENSMUSG00000070808 |
| Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
| Synonyms |
Gltscr1 |
| MMRRC Submission |
067499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R8063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15712969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1026
(V1026A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094821]
[ENSMUST00000210781]
|
| AlphaFold |
F8VPZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094821
AA Change: V1026A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: V1026A
| 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 |
probably benign
Transcript: ENSMUST00000210781
AA Change: V1026A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,190 (GRCm39) |
I248N |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,306,490 (GRCm39) |
C20S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,417 (GRCm39) |
S197L |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,853,768 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,768 (GRCm39) |
T837A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,545 (GRCm39) |
E50G |
probably damaging |
Het |
| Bend5 |
G |
T |
4: 111,317,031 (GRCm39) |
C398F |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,199,173 (GRCm39) |
Y165* |
probably null |
Het |
| Casp14 |
A |
G |
10: 78,549,865 (GRCm39) |
F210L |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,175 (GRCm39) |
D458E |
probably benign |
Het |
| Cisd3 |
T |
C |
11: 97,576,710 (GRCm39) |
V12A |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,045,578 (GRCm39) |
M211K |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,075 (GRCm39) |
L197P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,729 (GRCm39) |
I209N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,544,376 (GRCm39) |
M458K |
probably benign |
Het |
| Eif2ak4 |
G |
A |
2: 118,241,382 (GRCm39) |
E178K |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,880 (GRCm39) |
W123* |
probably null |
Het |
| Ighv1-20 |
T |
C |
12: 114,687,405 (GRCm39) |
Y113C |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,198 (GRCm39) |
I248N |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,081,819 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,526,670 (GRCm39) |
E1042G |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Lasp1 |
T |
C |
11: 97,724,957 (GRCm39) |
Y188H |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,087 (GRCm39) |
T3361A |
unknown |
Het |
| Lrrc52 |
A |
G |
1: 167,294,090 (GRCm39) |
I65T |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,495 (GRCm39) |
C224R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,942,136 (GRCm39) |
T162A |
probably benign |
Het |
| Mstn |
T |
A |
1: 53,105,607 (GRCm39) |
F316L |
probably benign |
Het |
| Ndufs8 |
T |
C |
19: 3,961,019 (GRCm39) |
Y86C |
probably damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,823 (GRCm39) |
I133F |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,126 (GRCm39) |
D462N |
possibly damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,597 (GRCm39) |
S62P |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,285,775 (GRCm39) |
Y388H |
probably damaging |
Het |
| Rdm1 |
C |
A |
11: 101,521,694 (GRCm39) |
Q150K |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,991,005 (GRCm39) |
V446A |
probably benign |
Het |
| Sin3b |
G |
A |
8: 73,452,169 (GRCm39) |
D71N |
probably damaging |
Het |
| Sirt5 |
A |
T |
13: 43,524,323 (GRCm39) |
T32S |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,059,524 (GRCm39) |
V85A |
probably benign |
Het |
| Snx1 |
C |
T |
9: 66,004,676 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,132,415 (GRCm39) |
D1181V |
unknown |
Het |
| Tcof1 |
A |
G |
18: 60,971,834 (GRCm39) |
S158P |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,379,723 (GRCm39) |
D815G |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,516,098 (GRCm39) |
I290N |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,300,544 (GRCm39) |
N225K |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,238,524 (GRCm39) |
T11A |
probably benign |
Het |
| Vmn1r5 |
T |
G |
6: 56,962,583 (GRCm39) |
M86R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,001,914 (GRCm39) |
H66Q |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,841,327 (GRCm39) |
E2647G |
|
Het |
| Wdr5b |
T |
A |
16: 35,862,158 (GRCm39) |
D92E |
possibly damaging |
Het |
| Zfp960 |
C |
A |
17: 17,308,623 (GRCm39) |
R446S |
probably benign |
Het |
| Zscan20 |
C |
T |
4: 128,480,028 (GRCm39) |
S821N |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCTTTCCATTGTGAGC -3'
(R):5'- AGGTAACCATCAGCAGCGAC -3'
Sequencing Primer
(F):5'- ATTGTGAGCCCCCTTCCCATC -3'
(R):5'- GCGATCCCATGTCCCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation