Incidental Mutation 'R7506:Bicra'
| ID |
581790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicra
|
| Ensembl Gene |
ENSMUSG00000070808 |
| Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
| Synonyms |
Gltscr1 |
| MMRRC Submission |
045579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R7506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 15722138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 460
(V460M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094821]
[ENSMUST00000210781]
|
| AlphaFold |
F8VPZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094821
AA Change: V460M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: V460M
| 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 |
possibly damaging
Transcript: ENSMUST00000210781
AA Change: V460M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,209,202 (GRCm39) |
V31I |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,450,498 (GRCm39) |
V24A |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,164,186 (GRCm39) |
R334W |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,088,562 (GRCm39) |
C116Y |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,561,740 (GRCm39) |
I74N |
probably damaging |
Het |
| Ccdc18 |
G |
A |
5: 108,311,605 (GRCm39) |
C437Y |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,034,396 (GRCm39) |
S755P |
probably damaging |
Het |
| Crtc2 |
G |
T |
3: 90,166,519 (GRCm39) |
A165S |
probably damaging |
Het |
| Cwf19l2 |
C |
T |
9: 3,456,775 (GRCm39) |
H703Y |
probably damaging |
Het |
| Cyc1 |
C |
A |
15: 76,227,885 (GRCm39) |
T41K |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,360,221 (GRCm39) |
H12L |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,666,521 (GRCm39) |
C577S |
probably benign |
Het |
| Ggt6 |
G |
T |
11: 72,328,724 (GRCm39) |
C408F |
possibly damaging |
Het |
| Gm3278 |
T |
A |
14: 16,080,479 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,198,683 (GRCm39) |
L412P |
probably damaging |
Het |
| Gucd1 |
T |
C |
10: 75,347,019 (GRCm39) |
H77R |
probably benign |
Het |
| H2bc8 |
G |
A |
13: 23,755,658 (GRCm39) |
A18T |
unknown |
Het |
| Hat1 |
T |
A |
2: 71,250,691 (GRCm39) |
I158N |
probably damaging |
Het |
| Hhla1 |
C |
T |
15: 65,808,231 (GRCm39) |
W271* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,226,775 (GRCm39) |
L2299F |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,644,891 (GRCm39) |
S914P |
probably damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,639,788 (GRCm39) |
H983Q |
possibly damaging |
Het |
| Irx2 |
G |
T |
13: 72,777,328 (GRCm39) |
G50C |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,357,064 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,157,045 (GRCm39) |
E1405G |
unknown |
Het |
| Mdm2 |
T |
C |
10: 117,526,596 (GRCm39) |
D330G |
possibly damaging |
Het |
| Mgat5 |
A |
C |
1: 127,294,192 (GRCm39) |
D178A |
probably benign |
Het |
| Mier2 |
C |
A |
10: 79,386,176 (GRCm39) |
R25L |
probably benign |
Het |
| Mlip |
T |
C |
9: 77,072,085 (GRCm39) |
K257E |
probably damaging |
Het |
| Mtfr2 |
T |
C |
10: 20,229,131 (GRCm39) |
S80P |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,780,153 (GRCm39) |
V29A |
probably benign |
Het |
| Negr1 |
T |
G |
3: 156,774,870 (GRCm39) |
Y195* |
probably null |
Het |
| Nptn |
T |
C |
9: 58,526,156 (GRCm39) |
L101P |
probably damaging |
Het |
| Nrip1 |
G |
A |
16: 76,091,347 (GRCm39) |
T70I |
probably damaging |
Het |
| Nrtn |
C |
T |
17: 57,058,633 (GRCm39) |
V123M |
probably damaging |
Het |
| Onecut1 |
T |
A |
9: 74,770,522 (GRCm39) |
F315Y |
possibly damaging |
Het |
| Or1p1 |
A |
T |
11: 74,179,949 (GRCm39) |
H159L |
possibly damaging |
Het |
| P4htm |
A |
G |
9: 108,460,878 (GRCm39) |
L198S |
probably damaging |
Het |
| Pappa |
A |
C |
4: 65,149,419 (GRCm39) |
I920L |
probably benign |
Het |
| Pcdhgb5 |
A |
C |
18: 37,865,525 (GRCm39) |
D440A |
probably damaging |
Het |
| Ppard |
A |
T |
17: 28,517,735 (GRCm39) |
N268Y |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,526,997 (GRCm39) |
S563T |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,407,118 (GRCm39) |
E949D |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,127,561 (GRCm39) |
M629T |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,067 (GRCm39) |
I319T |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,171,112 (GRCm39) |
W925* |
probably null |
Het |
| Spag9 |
G |
A |
11: 93,999,290 (GRCm39) |
D1069N |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,868,892 (GRCm39) |
V163A |
possibly damaging |
Het |
| Tmem150a |
G |
A |
6: 72,333,753 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,934,665 (GRCm39) |
V2425I |
possibly damaging |
Het |
| Tppp2 |
A |
G |
14: 52,158,058 (GRCm39) |
K168E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,719,812 (GRCm39) |
D7099V |
unknown |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,159 (GRCm39) |
R50* |
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,861 (GRCm39) |
K80E |
|
Het |
| Vmn2r18 |
A |
G |
5: 151,508,485 (GRCm39) |
F213S |
possibly damaging |
Het |
| Vmn2r26 |
G |
A |
6: 124,016,700 (GRCm39) |
S388N |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,391 (GRCm39) |
F474Y |
probably damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,309,875 (GRCm39) |
R316* |
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,612,211 (GRCm39) |
I225N |
probably damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,542 (GRCm39) |
E347G |
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 |
|
|
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'- ATAGGGTTGGCAATGAGCTG -3'
(R):5'- TACCATCCAGGGTGAACCAG -3'
Sequencing Primer
(F):5'- TTGGCAATGAGCTGTCCAC -3'
(R):5'- AGAACCTGACTTTTATGGCCACG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation