Incidental Mutation 'R5780:Bicra'
ID |
446931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bicra
|
Ensembl Gene |
ENSMUSG00000070808 |
Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
Synonyms |
Gltscr1 |
MMRRC Submission |
043205-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R5780 (G1)
|
Quality Score |
96 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15713679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 841
(L841Q)
|
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: L841Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092416 Gene: ENSMUSG00000070808 AA Change: L841Q
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: L841Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCATCTGGAAGGTCCGAG -3'
(R):5'- TGCAGCTGCTCCACTGAAAG -3'
Sequencing Primer
(F):5'- CAACCTGGCAGAAGGCTCAG -3'
(R):5'- TGCTCCACTGAAAGCCCCTG -3'
|
Posted On |
2016-12-15 |