Incidental Mutation 'R8877:Brip1'
| ID |
676647 |
| 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 |
068745-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 86043532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 344
(V344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: V344G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: V344G
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.8034 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,704 (GRCm39) |
|
probably null |
Het |
| Acp2 |
G |
A |
2: 91,036,129 (GRCm39) |
R109H |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,862,688 (GRCm39) |
S298P |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,517,548 (GRCm39) |
V157A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,740,904 (GRCm39) |
K181E |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,400,864 (GRCm39) |
T204A |
possibly damaging |
Het |
| Ccdc40 |
C |
T |
11: 119,153,992 (GRCm39) |
S1088L |
probably damaging |
Het |
| Ccdc93 |
A |
T |
1: 121,403,867 (GRCm39) |
H332L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,706,877 (GRCm39) |
D1120G |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,077,985 (GRCm39) |
I631N |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,197 (GRCm39) |
A1354T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,541,692 (GRCm39) |
L10P |
probably damaging |
Het |
| Creg2 |
G |
T |
1: 39,689,861 (GRCm39) |
T83K |
probably benign |
Het |
| Ddit3 |
T |
C |
10: 127,131,884 (GRCm39) |
I144T |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,292 (GRCm39) |
I1150V |
possibly damaging |
Het |
| Eprs1 |
C |
T |
1: 185,148,071 (GRCm39) |
R1278* |
probably null |
Het |
| Esco1 |
A |
G |
18: 10,575,017 (GRCm39) |
V685A |
probably damaging |
Het |
| Gid8 |
C |
T |
2: 180,358,710 (GRCm39) |
A125V |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,710,941 (GRCm39) |
D208G |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,503,699 (GRCm39) |
I679V |
probably damaging |
Het |
| Gsto2 |
C |
A |
19: 47,873,176 (GRCm39) |
R184S |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,770,854 (GRCm39) |
H830Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,514,659 (GRCm39) |
T3571I |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,131,782 (GRCm39) |
V568A |
possibly damaging |
Het |
| Kif13a |
T |
A |
13: 46,954,921 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,193,835 (GRCm39) |
V161A |
probably benign |
Het |
| Larp6 |
T |
A |
9: 60,644,850 (GRCm39) |
M330K |
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Mavs |
A |
G |
2: 131,087,489 (GRCm39) |
N329S |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,221,630 (GRCm39) |
N193K |
possibly damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,322,468 (GRCm39) |
R12* |
probably null |
Het |
| Mttp |
A |
T |
3: 137,818,317 (GRCm39) |
D380E |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,459,311 (GRCm39) |
T1939I |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,453,294 (GRCm39) |
R670* |
probably null |
Het |
| Obsl1 |
G |
A |
1: 75,473,167 (GRCm39) |
R1019* |
probably null |
Het |
| Or10ak12 |
A |
G |
4: 118,666,482 (GRCm39) |
V193A |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,212 (GRCm39) |
M19T |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,271 (GRCm39) |
V922I |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,951 (GRCm39) |
V190A |
possibly damaging |
Het |
| Plekhg2 |
G |
T |
7: 28,060,278 (GRCm39) |
T993N |
possibly damaging |
Het |
| Psg26 |
C |
T |
7: 18,217,865 (GRCm39) |
V18I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,419,424 (GRCm39) |
Y187C |
probably damaging |
Het |
| Smarcd3 |
A |
G |
5: 24,798,990 (GRCm39) |
S323P |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,199,137 (GRCm39) |
Y3163* |
probably null |
Het |
| Stx4a |
T |
A |
7: 127,447,633 (GRCm39) |
V259D |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,087,941 (GRCm39) |
S1331P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,385,540 (GRCm39) |
Q311* |
probably null |
Het |
| Tpo |
T |
A |
12: 30,142,738 (GRCm39) |
N662I |
probably damaging |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,350 (GRCm39) |
D101E |
probably damaging |
Het |
| Trbv14 |
G |
A |
6: 41,112,292 (GRCm39) |
A30T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,567,144 (GRCm39) |
S917P |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,856,319 (GRCm39) |
C466* |
probably null |
Het |
| Zfp462 |
T |
C |
4: 55,011,097 (GRCm39) |
V1021A |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,682,017 (GRCm39) |
M72T |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,674,416 (GRCm39) |
E122K |
unknown |
Het |
| Zfyve26 |
T |
C |
12: 79,334,152 (GRCm39) |
K289E |
probably benign |
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 |
|
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 |
|
R9703:Brip1
|
UTSW |
11 |
85,952,830 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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'- CATTCACCACTTATCTCAGTAAGC -3'
(R):5'- TCATCCTTTCAGAAATGTTATGGC -3'
Sequencing Primer
(F):5'- ACCACTTATCTCAGTAAGCAGTAAG -3'
(R):5'- TGTACTTCCAGCTCCACGAGATAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation