Incidental Mutation 'R5035:Bicra'
| ID |
389497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicra
|
| Ensembl Gene |
ENSMUSG00000070808 |
| Gene Name |
BRD4 interacting chromatin remodeling complex associated protein |
| Synonyms |
Gltscr1 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15704597-15781846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 15713349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 951
(R951Q)
|
| 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: R951Q
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: R951Q
| 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: R951Q
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0948 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATCCCAGATGGCACCTGAGG -3'
(R):5'- TCCAGAATCAATTGGGCGCC -3'
Sequencing Primer
(F):5'- GTGGGACATGGGATCGC -3'
(R):5'- TCCAGAGGGCCCACTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation