Incidental Mutation 'R0718:Brip1'
| ID |
262039 |
| 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 |
038900-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0718 (G1)
|
| Quality Score |
77 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86034131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 530
(L530P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: L530P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: L530P
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.8862 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (96/96) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
A |
T |
3: 95,586,918 (GRCm39) |
Y811N |
possibly damaging |
Het |
| Adrm1 |
T |
C |
2: 179,816,940 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,598,803 (GRCm39) |
S1210T |
probably benign |
Het |
| Ampd3 |
C |
T |
7: 110,377,015 (GRCm39) |
P11L |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,563,290 (GRCm39) |
E87G |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,242 (GRCm39) |
|
probably benign |
Het |
| Asic2 |
C |
G |
11: 80,862,282 (GRCm39) |
|
probably benign |
Het |
| Asph |
A |
G |
4: 9,514,683 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,531,351 (GRCm39) |
|
probably null |
Het |
| Bsn |
G |
T |
9: 107,988,559 (GRCm39) |
|
probably benign |
Het |
| Btnl4 |
T |
A |
17: 34,688,608 (GRCm39) |
H390L |
probably benign |
Het |
| Ccdc70 |
A |
C |
8: 22,463,324 (GRCm39) |
K38T |
probably damaging |
Het |
| Ccni |
G |
A |
5: 93,350,175 (GRCm39) |
P35S |
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,810,451 (GRCm39) |
D714G |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,386,181 (GRCm39) |
L2033P |
probably damaging |
Het |
| Cfap69 |
A |
T |
5: 5,671,924 (GRCm39) |
M328K |
probably damaging |
Het |
| Cmah |
T |
G |
13: 24,601,193 (GRCm39) |
|
probably null |
Het |
| Cog6 |
T |
C |
3: 52,918,050 (GRCm39) |
T163A |
probably benign |
Het |
| Cyp2j8 |
G |
A |
4: 96,389,433 (GRCm39) |
S130F |
probably benign |
Het |
| Dgki |
A |
G |
6: 36,989,831 (GRCm39) |
V636A |
probably damaging |
Het |
| Dmkn |
T |
A |
7: 30,464,211 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,012,276 (GRCm39) |
I3679T |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,380,740 (GRCm39) |
Y2495F |
possibly damaging |
Het |
| Exosc4 |
C |
T |
15: 76,213,689 (GRCm39) |
A171V |
probably benign |
Het |
| Fbxw24 |
A |
G |
9: 109,452,577 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,757,779 (GRCm39) |
L171Q |
probably damaging |
Het |
| Fsd1 |
G |
T |
17: 56,303,445 (GRCm39) |
|
probably null |
Het |
| Gm7732 |
A |
G |
17: 21,350,106 (GRCm39) |
|
noncoding transcript |
Het |
| H2-K2 |
A |
C |
17: 34,194,597 (GRCm39) |
|
noncoding transcript |
Het |
| Hgf |
A |
G |
5: 16,798,857 (GRCm39) |
N295S |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,754,870 (GRCm39) |
D811E |
probably benign |
Het |
| Igsf9b |
T |
A |
9: 27,234,657 (GRCm39) |
|
probably null |
Het |
| Immt |
T |
A |
6: 71,840,156 (GRCm39) |
V311E |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,056,119 (GRCm39) |
N51I |
possibly damaging |
Het |
| Isy1 |
T |
C |
6: 87,796,158 (GRCm39) |
K260E |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,674,061 (GRCm39) |
I28L |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,054,725 (GRCm39) |
|
probably null |
Het |
| Kif13b |
T |
C |
14: 64,989,111 (GRCm39) |
|
probably benign |
Het |
| Klhdc7b |
T |
C |
15: 89,272,372 (GRCm39) |
Y427H |
possibly damaging |
Het |
| Klhl8 |
T |
C |
5: 104,024,159 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,341,292 (GRCm39) |
D963N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,796,776 (GRCm39) |
|
probably benign |
Het |
| Ltf |
C |
A |
9: 110,869,447 (GRCm39) |
Q41K |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,754,097 (GRCm39) |
I148N |
probably damaging |
Het |
| Mlh3 |
T |
G |
12: 85,294,471 (GRCm39) |
S1242R |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,567,185 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,210,710 (GRCm39) |
I1712T |
possibly damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,301 (GRCm39) |
H209L |
probably benign |
Het |
| Nkapl |
A |
T |
13: 21,652,610 (GRCm39) |
M1K |
probably null |
Het |
| Nmur2 |
T |
A |
11: 55,920,324 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,691,816 (GRCm39) |
|
probably benign |
Het |
| Or10ag60 |
A |
G |
2: 87,438,271 (GRCm39) |
I180V |
probably benign |
Het |
| Or8k35 |
G |
A |
2: 86,424,425 (GRCm39) |
T249I |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,882,146 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
A |
G |
14: 80,008,131 (GRCm39) |
V144A |
possibly damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,727,756 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
C |
A |
2: 60,309,874 (GRCm39) |
V570L |
possibly damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,943,599 (GRCm39) |
E1202D |
possibly damaging |
Het |
| Ppp1r37 |
T |
C |
7: 19,266,179 (GRCm39) |
E529G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,613,833 (GRCm39) |
F496L |
possibly damaging |
Het |
| Prlhr |
G |
T |
19: 60,456,497 (GRCm39) |
S23* |
probably null |
Het |
| Prlhr |
A |
T |
19: 60,456,443 (GRCm39) |
V41D |
probably benign |
Het |
| Prpf4 |
C |
T |
4: 62,332,777 (GRCm39) |
|
probably benign |
Het |
| Psg26 |
C |
T |
7: 18,209,160 (GRCm39) |
R416H |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,212 (GRCm39) |
H381R |
probably benign |
Het |
| Ralgds |
T |
G |
2: 28,439,128 (GRCm39) |
M717R |
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,672,756 (GRCm39) |
N44D |
probably damaging |
Het |
| Rpa1 |
T |
C |
11: 75,209,227 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,673,699 (GRCm39) |
N568S |
probably benign |
Het |
| Rptor |
A |
G |
11: 119,763,202 (GRCm39) |
M929V |
probably benign |
Het |
| Rspo1 |
T |
A |
4: 124,900,942 (GRCm39) |
C97S |
possibly damaging |
Het |
| Scin |
C |
T |
12: 40,129,606 (GRCm39) |
G396S |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,377,456 (GRCm39) |
N409D |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,058,544 (GRCm39) |
I15T |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,712,839 (GRCm39) |
V149A |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,412,237 (GRCm39) |
|
probably benign |
Het |
| Sp9 |
G |
T |
2: 73,104,171 (GRCm39) |
A242S |
possibly damaging |
Het |
| Srr |
A |
G |
11: 74,801,891 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tatdn3 |
G |
T |
1: 190,785,046 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
G |
A |
11: 87,390,439 (GRCm39) |
V379I |
probably benign |
Het |
| Tmed6 |
T |
C |
8: 107,788,356 (GRCm39) |
N197S |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,575,641 (GRCm39) |
I1043N |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,579,056 (GRCm39) |
L689F |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,641,040 (GRCm39) |
S5283P |
probably damaging |
Het |
| Ube3b |
C |
A |
5: 114,540,616 (GRCm39) |
S441* |
probably null |
Het |
| Ush2a |
G |
A |
1: 188,530,027 (GRCm39) |
C3272Y |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,359,109 (GRCm39) |
I95K |
probably damaging |
Het |
| Vangl2 |
G |
A |
1: 171,833,784 (GRCm39) |
A433V |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,336,135 (GRCm39) |
V153D |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,282 (GRCm39) |
D3240E |
unknown |
Het |
| Zfp945 |
A |
G |
17: 23,070,004 (GRCm39) |
C632R |
probably damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,312,576 (GRCm39) |
|
probably benign |
Het |
| Zyg11b |
A |
T |
4: 108,099,273 (GRCm39) |
I606N |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-02-04 |
Incidental Mutation