Incidental Mutation 'R7534:Bicra'
| ID |
583449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicra
|
| Ensembl Gene |
ENSMUSG00000070808 |
| Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
| Synonyms |
Gltscr1 |
| MMRRC Submission |
045606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R7534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15705860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1527
(N1527S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094821]
[ENSMUST00000098799]
[ENSMUST00000144956]
[ENSMUST00000210781]
|
| AlphaFold |
F8VPZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094821
AA Change: N1527S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: N1527S
| 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: ENSMUST00000098799
|
| SMART Domains |
Protein: ENSMUSP00000096397
Gene: ENSMUSG00000074364
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHD_N
|
24 |
56 |
4.1e-19 |
PFAM |
|
Pfam:MMR_HSR1
|
60 |
220 |
2.2e-7 |
PFAM |
|
Pfam:Dynamin_N
|
61 |
221 |
2.4e-14 |
PFAM |
|
EH
|
443 |
536 |
2.96e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144956
|
| SMART Domains |
Protein: ENSMUSP00000119933
Gene: ENSMUSG00000074364
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
4 |
84 |
2.4e-7 |
PFAM |
|
Pfam:Dynamin_N
|
4 |
85 |
1.8e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210781
AA Change: N1527S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0838 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
C |
17: 35,390,390 (GRCm39) |
M120R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,727,982 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,450,015 (GRCm39) |
S2304P |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,502,777 (GRCm39) |
C632S |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 29,801,319 (GRCm39) |
L1363P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,301,904 (GRCm39) |
P2037S |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,399,240 (GRCm39) |
L724S |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,420,764 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,421,580 (GRCm39) |
A280V |
probably benign |
Het |
| Dclk3 |
G |
A |
9: 111,297,286 (GRCm39) |
G277R |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,993,514 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
C |
1: 46,809,227 (GRCm39) |
D3515A |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,172 (GRCm39) |
T49M |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,631,060 (GRCm39) |
F40I |
probably damaging |
Het |
| Fancd2os |
T |
C |
6: 113,574,601 (GRCm39) |
H135R |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,509,875 (GRCm39) |
I1446V |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,856,545 (GRCm39) |
Y584* |
probably null |
Het |
| Galnt16 |
A |
T |
12: 80,643,909 (GRCm39) |
L442F |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,432,973 (GRCm39) |
|
probably benign |
Het |
| Ggta1 |
C |
T |
2: 35,292,440 (GRCm39) |
R289Q |
probably damaging |
Het |
| Gm11564 |
T |
C |
11: 99,706,347 (GRCm39) |
T28A |
unknown |
Het |
| Hcn1 |
A |
G |
13: 118,111,961 (GRCm39) |
T642A |
unknown |
Het |
| Hhat |
A |
T |
1: 192,408,612 (GRCm39) |
L173H |
probably damaging |
Het |
| Hook1 |
T |
G |
4: 95,905,834 (GRCm39) |
I585S |
probably benign |
Het |
| Ighg1 |
A |
T |
12: 113,293,349 (GRCm39) |
S114T |
|
Het |
| Kmt2d |
G |
A |
15: 98,749,899 (GRCm39) |
P2598L |
unknown |
Het |
| Macc1 |
A |
T |
12: 119,411,254 (GRCm39) |
H674L |
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,188 (GRCm39) |
M71K |
probably benign |
Het |
| Or7e170 |
A |
G |
9: 19,795,472 (GRCm39) |
V43A |
probably benign |
Het |
| Or9g3 |
A |
C |
2: 85,589,803 (GRCm39) |
L306V |
probably benign |
Het |
| Pnliprp2 |
T |
A |
19: 58,763,574 (GRCm39) |
S408T |
probably benign |
Het |
| Ppara |
A |
C |
15: 85,661,927 (GRCm39) |
Y56S |
probably benign |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,816 (GRCm39) |
C114R |
probably benign |
Het |
| Pycard |
C |
T |
7: 127,592,657 (GRCm39) |
V57I |
probably damaging |
Het |
| Relch |
G |
A |
1: 105,668,748 (GRCm39) |
R993Q |
probably benign |
Het |
| Rin3 |
T |
G |
12: 102,317,200 (GRCm39) |
Y143D |
unknown |
Het |
| Slc12a7 |
A |
G |
13: 73,912,187 (GRCm39) |
|
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,957,440 (GRCm39) |
R444H |
probably damaging |
Het |
| Ttf2 |
C |
T |
3: 100,857,728 (GRCm39) |
|
probably null |
Het |
| Ufsp2 |
T |
A |
8: 46,433,361 (GRCm39) |
I25N |
probably benign |
Het |
| Uqcrc2 |
A |
G |
7: 120,240,912 (GRCm39) |
T115A |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,230 (GRCm39) |
R328* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,040 (GRCm39) |
Y269F |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,030 (GRCm39) |
Y118C |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,766,611 (GRCm39) |
V374A |
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 |
|
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 |
|
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'- AAGCAGCCCGGTGTTATCTG -3'
(R):5'- GGATGAACTATATCAGCGGGTTCTG -3'
Sequencing Primer
(F):5'- AGCCCGGTGTTATCTGTTCAAC -3'
(R):5'- ACTATATCAGCGGGTTCTGAAGGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation