Incidental Mutation 'R7476:Brip1'
| ID |
579505 |
| 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 |
045550-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86048634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 236
(V236A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044423
AA Change: V236A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: V236A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
C |
T |
6: 52,156,014 (GRCm39) |
P27S |
unknown |
Het |
| Abi3bp |
A |
T |
16: 56,435,109 (GRCm39) |
K602* |
probably null |
Het |
| Adam29 |
G |
T |
8: 56,326,230 (GRCm39) |
H75N |
probably damaging |
Het |
| Ajap1 |
C |
T |
4: 153,469,312 (GRCm39) |
E373K |
probably damaging |
Het |
| Alg6 |
C |
A |
4: 99,632,113 (GRCm39) |
H206N |
probably damaging |
Het |
| Alox5 |
A |
T |
6: 116,392,394 (GRCm39) |
S376T |
probably benign |
Het |
| Arhgap19 |
A |
T |
19: 41,770,802 (GRCm39) |
Y321N |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,499,658 (GRCm39) |
P615S |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,942,024 (GRCm39) |
V161I |
possibly damaging |
Het |
| Chil5 |
G |
A |
3: 105,927,323 (GRCm39) |
R163C |
possibly damaging |
Het |
| Cldnd1 |
A |
G |
16: 58,549,907 (GRCm39) |
D30G |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,945,731 (GRCm39) |
C3561R |
probably damaging |
Het |
| Daxx |
T |
G |
17: 34,130,255 (GRCm39) |
V90G |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,441,054 (GRCm39) |
|
probably benign |
Het |
| Dmrta2 |
A |
G |
4: 109,839,222 (GRCm39) |
H323R |
probably damaging |
Het |
| Dysf |
A |
T |
6: 84,041,878 (GRCm39) |
T161S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,484,311 (GRCm39) |
R3183L |
probably benign |
Het |
| Fcho1 |
C |
A |
8: 72,166,190 (GRCm39) |
D347Y |
probably damaging |
Het |
| Gm21798 |
T |
C |
15: 64,689,555 (GRCm39) |
C5R |
unknown |
Het |
| Hmcn1 |
T |
C |
1: 150,456,018 (GRCm39) |
R5301G |
probably damaging |
Het |
| Hoxd11 |
T |
C |
2: 74,514,459 (GRCm39) |
F330L |
probably damaging |
Het |
| Lactbl1 |
A |
G |
4: 136,364,950 (GRCm39) |
D434G |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,463,362 (GRCm39) |
N191K |
probably damaging |
Het |
| Lmod2 |
T |
A |
6: 24,597,920 (GRCm39) |
Y13* |
probably null |
Het |
| Malrd1 |
T |
C |
2: 16,147,115 (GRCm39) |
S1986P |
unknown |
Het |
| Map3k9 |
C |
T |
12: 81,790,582 (GRCm39) |
D324N |
probably damaging |
Het |
| Mcmbp |
C |
A |
7: 128,305,306 (GRCm39) |
K487N |
probably damaging |
Het |
| Mrpl4 |
G |
T |
9: 20,914,067 (GRCm39) |
|
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,451,546 (GRCm39) |
D496G |
possibly damaging |
Het |
| Nom1 |
T |
C |
5: 29,647,534 (GRCm39) |
S590P |
probably benign |
Het |
| Noto |
T |
C |
6: 85,402,481 (GRCm39) |
F156L |
probably damaging |
Het |
| Nrf1 |
T |
A |
6: 30,116,271 (GRCm39) |
D314E |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,030,260 (GRCm39) |
L373P |
probably damaging |
Het |
| Or2w1b |
A |
C |
13: 21,300,191 (GRCm39) |
I110L |
probably benign |
Het |
| Or4a2 |
T |
C |
2: 89,247,843 (GRCm39) |
K305E |
possibly damaging |
Het |
| Or4c11c |
A |
G |
2: 88,661,932 (GRCm39) |
Q157R |
probably benign |
Het |
| Or5d40 |
A |
T |
2: 88,015,310 (GRCm39) |
M30L |
probably benign |
Het |
| Or5g25 |
T |
A |
2: 85,478,512 (GRCm39) |
Q51L |
not run |
Het |
| Or9s27 |
A |
C |
1: 92,516,986 (GRCm39) |
R311S |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,571,345 (GRCm39) |
K243N |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,331,264 (GRCm39) |
C290S |
probably damaging |
Het |
| Pnlip |
G |
A |
19: 58,668,066 (GRCm39) |
|
probably null |
Het |
| Pou2af3 |
G |
A |
9: 51,188,900 (GRCm39) |
A19V |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,032,786 (GRCm39) |
H1022Q |
probably benign |
Het |
| Rfx2 |
T |
C |
17: 57,110,527 (GRCm39) |
D153G |
probably benign |
Het |
| Rps6ka2 |
T |
C |
17: 7,539,032 (GRCm39) |
F317L |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,557,539 (GRCm39) |
E1433D |
unknown |
Het |
| Sarnp |
A |
G |
10: 128,669,223 (GRCm39) |
T27A |
probably benign |
Het |
| Shc3 |
A |
T |
13: 51,602,042 (GRCm39) |
M295K |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,672,568 (GRCm39) |
M304L |
probably damaging |
Het |
| Slco1a6 |
G |
T |
6: 142,048,727 (GRCm39) |
T351K |
possibly damaging |
Het |
| Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,110,022 (GRCm39) |
V473E |
probably benign |
Het |
| Stk35 |
T |
C |
2: 129,652,645 (GRCm39) |
L382P |
probably damaging |
Het |
| Tbx10 |
T |
C |
19: 4,049,034 (GRCm39) |
V315A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,578,082 (GRCm39) |
L234P |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,544,489 (GRCm39) |
E32832D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,601,530 (GRCm39) |
Y18678C |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,353 (GRCm39) |
M205K |
probably damaging |
Het |
| Utrn |
C |
A |
10: 12,516,695 (GRCm39) |
V2300L |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,507,847 (GRCm39) |
N260S |
probably benign |
Het |
| Vmn1r63 |
T |
A |
7: 5,806,000 (GRCm39) |
I211L |
probably benign |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,542 (GRCm39) |
W172R |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,978 (GRCm39) |
L1073P |
probably benign |
Het |
| Zfp82 |
A |
G |
7: 29,755,597 (GRCm39) |
V495A |
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 |
|
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 |
|
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'- TACTTACGTGCTTGCCATCCAG -3'
(R):5'- TGTAATGTCTGAAAGCTTCTTGCAC -3'
Sequencing Primer
(F):5'- GTTGAAATTCCCCACCACTTCAGG -3'
(R):5'- GAAAGCTTCTTGCACCATTGTG -3'
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| Posted On |
2019-10-07 |
Incidental Mutation