Incidental Mutation 'R1885:Brip1'
ID |
209470 |
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 |
039906-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1885 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 86029641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 631
(G631V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
AlphaFold |
Q5SXJ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044423
AA Change: G631V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043108 Gene: ENSMUSG00000034329 AA Change: G631V
Domain | Start | End | E-Value | Type |
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
Coding Region Coverage |
- 1x: 97.0%
- 3x: 96.1%
- 10x: 92.7%
- 20x: 85.1%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
Aarsd1 |
T |
C |
11: 101,302,227 (GRCm39) |
T278A |
probably benign |
Het |
Acox2 |
C |
T |
14: 8,248,102 (GRCm38) |
M393I |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,398,377 (GRCm39) |
I1491M |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,184,951 (GRCm39) |
V209E |
probably damaging |
Het |
Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,281,561 (GRCm39) |
N822K |
probably damaging |
Het |
Apobec3 |
A |
T |
15: 79,781,906 (GRCm39) |
H82L |
probably damaging |
Het |
Atg9b |
A |
T |
5: 24,593,252 (GRCm39) |
W384R |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,904,661 (GRCm39) |
V506A |
possibly damaging |
Het |
Atxn1 |
G |
T |
13: 45,721,280 (GRCm39) |
A205D |
probably benign |
Het |
B4galnt3 |
T |
C |
6: 120,200,601 (GRCm39) |
E223G |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,243,145 (GRCm39) |
E434G |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,779,383 (GRCm39) |
|
probably null |
Het |
Cblif |
G |
A |
19: 11,729,688 (GRCm39) |
A216T |
probably benign |
Het |
Ccdc80 |
A |
C |
16: 44,917,083 (GRCm39) |
D613A |
probably benign |
Het |
Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,239,545 (GRCm39) |
D625E |
probably benign |
Het |
Coq6 |
C |
A |
12: 84,419,238 (GRCm39) |
N388K |
probably damaging |
Het |
Cracd |
A |
G |
5: 77,004,589 (GRCm39) |
T317A |
unknown |
Het |
D430041D05Rik |
T |
C |
2: 104,060,800 (GRCm39) |
M1365V |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
Dpysl4 |
T |
G |
7: 138,676,723 (GRCm39) |
V391G |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,854,144 (GRCm39) |
Q550K |
probably benign |
Het |
Epas1 |
A |
G |
17: 87,112,723 (GRCm39) |
D107G |
probably damaging |
Het |
Esrp2 |
A |
G |
8: 106,858,453 (GRCm39) |
V636A |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,748,795 (GRCm39) |
Y176N |
probably damaging |
Het |
Etnppl |
T |
C |
3: 130,423,111 (GRCm39) |
V264A |
probably benign |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Fer |
T |
A |
17: 64,445,909 (GRCm39) |
V790D |
probably damaging |
Het |
Gdpd5 |
G |
A |
7: 99,109,204 (GRCm39) |
V575I |
probably benign |
Het |
Gfus |
G |
T |
15: 75,798,838 (GRCm39) |
T123N |
possibly damaging |
Het |
Gipc3 |
T |
C |
10: 81,177,181 (GRCm39) |
I130V |
probably benign |
Het |
Iqsec3 |
G |
A |
6: 121,405,326 (GRCm39) |
|
probably benign |
Het |
Kdm5d |
G |
T |
Y: 940,781 (GRCm39) |
|
probably null |
Het |
Kl |
A |
G |
5: 150,876,959 (GRCm39) |
R260G |
possibly damaging |
Het |
Kras |
T |
C |
6: 145,177,843 (GRCm39) |
E143G |
probably damaging |
Het |
Ksr1 |
C |
A |
11: 78,911,204 (GRCm39) |
V11F |
probably null |
Het |
Ksr1 |
T |
C |
11: 78,927,347 (GRCm39) |
T329A |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,502,952 (GRCm39) |
V83A |
probably benign |
Het |
Mettl2 |
T |
C |
11: 105,022,446 (GRCm39) |
I212T |
possibly damaging |
Het |
Mgat3 |
A |
G |
15: 80,095,820 (GRCm39) |
I216V |
probably benign |
Het |
Mkrn3 |
G |
A |
7: 62,068,486 (GRCm39) |
A435V |
probably benign |
Het |
Mlh1 |
C |
A |
9: 111,087,624 (GRCm39) |
S24I |
probably benign |
Het |
Mmel1 |
G |
A |
4: 154,975,333 (GRCm39) |
R424Q |
possibly damaging |
Het |
Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
Myh3 |
A |
G |
11: 66,977,453 (GRCm39) |
K368E |
probably benign |
Het |
Myo16 |
T |
A |
8: 10,372,656 (GRCm39) |
N118K |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,157,043 (GRCm39) |
S160G |
probably damaging |
Het |
Nat1 |
A |
T |
8: 67,943,653 (GRCm39) |
I13F |
probably damaging |
Het |
Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,622 (GRCm39) |
S1207P |
probably benign |
Het |
Or2y17 |
T |
C |
11: 49,231,662 (GRCm39) |
L101P |
probably damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
Or5w22 |
T |
C |
2: 87,363,168 (GRCm39) |
S264P |
probably damaging |
Het |
Paqr8 |
A |
T |
1: 21,005,704 (GRCm39) |
H286L |
probably damaging |
Het |
Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
Pes1 |
A |
G |
11: 3,919,482 (GRCm39) |
K52E |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,111,496 (GRCm39) |
S774P |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,033 (GRCm39) |
D1283G |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
Skic3 |
A |
T |
13: 76,261,166 (GRCm39) |
R112S |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,278,354 (GRCm39) |
Q556R |
probably benign |
Het |
Slc2a4 |
C |
T |
11: 69,835,833 (GRCm39) |
V339I |
probably benign |
Het |
Slc39a6 |
G |
A |
18: 24,734,539 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
Snx33 |
T |
C |
9: 56,833,121 (GRCm39) |
H316R |
probably benign |
Het |
Spata31d1a |
T |
G |
13: 59,849,821 (GRCm39) |
D769A |
probably damaging |
Het |
Stmn2 |
A |
T |
3: 8,606,964 (GRCm39) |
E28V |
probably damaging |
Het |
Syt9 |
A |
G |
7: 107,035,736 (GRCm39) |
D251G |
probably damaging |
Het |
Tjap1 |
T |
C |
17: 46,573,347 (GRCm39) |
T37A |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
Tprg1 |
A |
G |
16: 25,231,641 (GRCm39) |
T206A |
probably benign |
Het |
Ubqlnl |
A |
T |
7: 103,799,272 (GRCm39) |
M75K |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
C |
T |
5: 109,239,942 (GRCm39) |
G207E |
probably damaging |
Het |
Xrn2 |
T |
G |
2: 146,891,281 (GRCm39) |
L697* |
probably null |
Het |
Zfp764 |
A |
G |
7: 127,004,211 (GRCm39) |
F307L |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
probably damaging |
Het |
Zranb2 |
A |
T |
3: 157,248,793 (GRCm39) |
|
probably null |
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 |
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 |
PCR Primer
(F):5'- ACCCTGTGAGTCTGTTAAGCAG -3'
(R):5'- TGCAACTTGTCTTGACTAGGACC -3'
Sequencing Primer
(F):5'- TGAGTCTGTTAAGCAGCTGAC -3'
(R):5'- TTGACTAGGACCAGAAATTAAATGGC -3'
|
Posted On |
2014-06-30 |