Incidental Mutation 'R9703:Brip1'
| ID |
729674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brip1
|
| Ensembl Gene |
ENSMUSG00000034329 |
| Gene Name |
BRCA1 interacting protein C-terminal helicase 1 |
| Synonyms |
8030460J03Rik, BACH1, 3110009N10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85952830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 984
(T984A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: T984A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: T984A
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the DEAH subfamily of DEAD box helicases. A similar protein in humans is both a DNA-dependent ATPase and a 5-prime-to-3-prime DNA helicase, and plays a role in the repair of DNA double stranded breaks through interaction with the breast cancer-associated tumor suppressor BRCA1. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit gonadal atrophy, subfertility, germ cell attrition, epithelial tumor predisposition, increased cellular sensitivity to interstrand crosslink-inducing agents, hypersensitivity to replication inhibitors, and predisposition to lymphoma. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,971 (GRCm39) |
N360K |
probably damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,629 (GRCm39) |
T625A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,030,507 (GRCm39) |
L82Q |
probably damaging |
Het |
| Arhgap30 |
T |
G |
1: 171,235,339 (GRCm39) |
L571R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,431 (GRCm39) |
C493Y |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,749,200 (GRCm39) |
V38A |
possibly damaging |
Het |
| Crocc2 |
C |
A |
1: 93,130,444 (GRCm39) |
D908E |
probably benign |
Het |
| Crybg3 |
C |
G |
16: 59,375,939 (GRCm39) |
A58P |
probably damaging |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,824,635 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,517,540 (GRCm39) |
R1373C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,781,989 (GRCm39) |
*2043R |
probably null |
Het |
| Efs |
A |
T |
14: 55,156,871 (GRCm39) |
V388E |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,354,796 (GRCm39) |
|
probably null |
Het |
| Extl3 |
G |
T |
14: 65,292,103 (GRCm39) |
R907S |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,806,400 (GRCm39) |
V2123M |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,797,433 (GRCm39) |
D137E |
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,124,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| H2ac19 |
G |
A |
3: 96,147,557 (GRCm39) |
R4C |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,979 (GRCm39) |
C420Y |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,459,063 (GRCm39) |
L316Q |
probably damaging |
Het |
| Iws1 |
T |
A |
18: 32,212,738 (GRCm39) |
D55E |
probably damaging |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Klrc2 |
G |
C |
6: 129,633,407 (GRCm39) |
S215* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,425,535 (GRCm39) |
T4727A |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,131,228 (GRCm39) |
S198P |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,856 (GRCm39) |
I126F |
possibly damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,286 (GRCm39) |
I11N |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,383,777 (GRCm39) |
I523F |
probably damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,850 (GRCm39) |
I18K |
probably benign |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,019 (GRCm39) |
D323E |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,826,142 (GRCm39) |
|
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,176 (GRCm39) |
F53I |
probably benign |
Het |
| Pramel29 |
T |
A |
4: 143,939,510 (GRCm39) |
D9V |
probably damaging |
Het |
| Prph2 |
G |
A |
17: 47,234,447 (GRCm39) |
A339T |
unknown |
Het |
| Prrc2a |
T |
C |
17: 35,378,320 (GRCm39) |
K452E |
unknown |
Het |
| Rab36 |
T |
C |
10: 74,886,474 (GRCm39) |
W151R |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,283 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,224,193 (GRCm39) |
I55K |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,739,744 (GRCm39) |
I3401N |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,991,713 (GRCm39) |
H280L |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,153 (GRCm39) |
H202R |
probably benign |
Het |
| Swap70 |
C |
T |
7: 109,872,512 (GRCm39) |
R376C |
probably damaging |
Het |
| Syde1 |
G |
T |
10: 78,421,557 (GRCm39) |
L665M |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,761,863 (GRCm39) |
V126A |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,293,938 (GRCm39) |
H230R |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,889,412 (GRCm39) |
A1698V |
probably benign |
Het |
| Twist2 |
C |
A |
1: 91,729,744 (GRCm39) |
S132R |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,732,092 (GRCm39) |
C1170Y |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
|
| Other mutations in Brip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Brip1
|
APN |
11 |
86,039,227 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01098:Brip1
|
APN |
11 |
85,999,688 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01503:Brip1
|
APN |
11 |
85,952,703 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01602:Brip1
|
APN |
11 |
85,952,830 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01605:Brip1
|
APN |
11 |
85,952,830 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01940:Brip1
|
APN |
11 |
85,955,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Brip1
|
APN |
11 |
86,088,775 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02212:Brip1
|
APN |
11 |
86,029,841 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02456:Brip1
|
APN |
11 |
85,955,925 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02727:Brip1
|
APN |
11 |
86,043,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02983:Brip1
|
APN |
11 |
86,029,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03022:Brip1
|
APN |
11 |
85,968,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03116:Brip1
|
APN |
11 |
85,955,735 (GRCm39) |
nonsense |
probably null |
|
|
IGL03143:Brip1
|
APN |
11 |
85,952,653 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
blip
|
UTSW |
11 |
85,965,124 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Microwave
|
UTSW |
11 |
86,043,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
radar
|
UTSW |
11 |
86,043,495 (GRCm39) |
nonsense |
probably null |
|
|
P0018:Brip1
|
UTSW |
11 |
85,999,694 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0011:Brip1
|
UTSW |
11 |
86,077,824 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0011:Brip1
|
UTSW |
11 |
86,077,824 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0446:Brip1
|
UTSW |
11 |
86,048,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0498:Brip1
|
UTSW |
11 |
86,088,745 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0599:Brip1
|
UTSW |
11 |
86,043,563 (GRCm39) |
missense |
probably benign |
|
|
R0653:Brip1
|
UTSW |
11 |
86,043,484 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0661:Brip1
|
UTSW |
11 |
86,001,189 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0671:Brip1
|
UTSW |
11 |
86,043,493 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0718:Brip1
|
UTSW |
11 |
86,034,131 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0750:Brip1
|
UTSW |
11 |
85,952,325 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0834:Brip1
|
UTSW |
11 |
86,083,653 (GRCm39) |
missense |
probably benign |
|
|
R1128:Brip1
|
UTSW |
11 |
85,955,763 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1726:Brip1
|
UTSW |
11 |
85,955,740 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1813:Brip1
|
UTSW |
11 |
86,077,906 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1885:Brip1
|
UTSW |
11 |
86,029,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Brip1
|
UTSW |
11 |
86,029,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Brip1
|
UTSW |
11 |
86,029,971 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2206:Brip1
|
UTSW |
11 |
85,952,703 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2207:Brip1
|
UTSW |
11 |
85,952,703 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3404:Brip1
|
UTSW |
11 |
86,034,089 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3421:Brip1
|
UTSW |
11 |
86,043,495 (GRCm39) |
nonsense |
probably null |
|
|
R3876:Brip1
|
UTSW |
11 |
86,043,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4018:Brip1
|
UTSW |
11 |
86,029,677 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4092:Brip1
|
UTSW |
11 |
86,039,347 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4384:Brip1
|
UTSW |
11 |
86,039,255 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4394:Brip1
|
UTSW |
11 |
85,965,124 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4518:Brip1
|
UTSW |
11 |
85,968,704 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4522:Brip1
|
UTSW |
11 |
86,080,627 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4840:Brip1
|
UTSW |
11 |
86,037,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5025:Brip1
|
UTSW |
11 |
85,955,806 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5176:Brip1
|
UTSW |
11 |
85,968,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5213:Brip1
|
UTSW |
11 |
86,034,147 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5470:Brip1
|
UTSW |
11 |
86,039,368 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5525:Brip1
|
UTSW |
11 |
86,001,273 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6057:Brip1
|
UTSW |
11 |
85,955,865 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6819:Brip1
|
UTSW |
11 |
86,001,267 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6908:Brip1
|
UTSW |
11 |
85,968,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6920:Brip1
|
UTSW |
11 |
86,039,362 (GRCm39) |
nonsense |
probably null |
|
|
R7053:Brip1
|
UTSW |
11 |
86,083,791 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7235:Brip1
|
UTSW |
11 |
86,029,701 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7253:Brip1
|
UTSW |
11 |
86,034,104 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7347:Brip1
|
UTSW |
11 |
86,029,929 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7476:Brip1
|
UTSW |
11 |
86,048,634 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7580:Brip1
|
UTSW |
11 |
86,048,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7639:Brip1
|
UTSW |
11 |
86,043,648 (GRCm39) |
splice site |
probably null |
|
|
R7771:Brip1
|
UTSW |
11 |
85,952,850 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8125:Brip1
|
UTSW |
11 |
86,077,817 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8236:Brip1
|
UTSW |
11 |
86,029,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8509:Brip1
|
UTSW |
11 |
86,088,774 (GRCm39) |
nonsense |
probably null |
|
|
R8815:Brip1
|
UTSW |
11 |
86,080,598 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8877:Brip1
|
UTSW |
11 |
86,043,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8938:Brip1
|
UTSW |
11 |
86,039,227 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9038:Brip1
|
UTSW |
11 |
86,080,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9104:Brip1
|
UTSW |
11 |
86,077,897 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9466:Brip1
|
UTSW |
11 |
86,048,584 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9645:Brip1
|
UTSW |
11 |
85,952,512 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9774:Brip1
|
UTSW |
11 |
86,077,838 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0060:Brip1
|
UTSW |
11 |
86,043,445 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0062:Brip1
|
UTSW |
11 |
86,034,182 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTGAGTGGCAAAGCAG -3'
(R):5'- AGCCACTGTTCTCTTCAGGG -3'
Sequencing Primer
(F):5'- GCAGTTTTATTGAAAGTGGAAGAACC -3'
(R):5'- TTTAATCCCAGCACTTAGGAGGCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation