Incidental Mutation 'R7580:Brip1'
| ID |
586702 |
| 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 |
045664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7580 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86048427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 305
(L305P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044423
AA Change: L305P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: L305P
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.5336 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
A |
13: 60,993,040 (GRCm39) |
Y213F |
probably damaging |
Het |
| Adamdec1 |
A |
G |
14: 68,802,980 (GRCm39) |
S462P |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 85,972,301 (GRCm39) |
C3S |
possibly damaging |
Het |
| Bag1 |
C |
T |
4: 40,947,836 (GRCm39) |
E123K |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,206,700 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,837,146 (GRCm39) |
K205I |
probably damaging |
Het |
| Cmtr2 |
T |
A |
8: 110,948,309 (GRCm39) |
N206K |
probably damaging |
Het |
| Defb34 |
G |
A |
8: 19,176,426 (GRCm39) |
C39Y |
possibly damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,296 (GRCm39) |
S881P |
possibly damaging |
Het |
| Dglucy |
C |
T |
12: 100,816,423 (GRCm39) |
A325V |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,994,077 (GRCm39) |
E3398G |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,183,130 (GRCm39) |
I96K |
probably damaging |
Het |
| Endov |
C |
T |
11: 119,390,692 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,430,245 (GRCm39) |
Q224L |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,704,613 (GRCm39) |
N431S |
possibly damaging |
Het |
| Gata3 |
A |
C |
2: 9,867,943 (GRCm39) |
V337G |
probably damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,432 (GRCm39) |
V83M |
probably damaging |
Het |
| Hgd |
C |
A |
16: 37,439,241 (GRCm39) |
P224H |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,908,374 (GRCm39) |
V330A |
probably damaging |
Het |
| Kiz |
C |
G |
2: 146,798,169 (GRCm39) |
I631M |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,265,118 (GRCm39) |
D366G |
probably benign |
Het |
| Lrmda |
C |
T |
14: 22,069,925 (GRCm39) |
|
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,906 (GRCm39) |
A220S |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,355,201 (GRCm39) |
C1505* |
probably null |
Het |
| Mmp20 |
C |
T |
9: 7,654,144 (GRCm39) |
R355* |
probably null |
Het |
| Mmp28 |
T |
A |
11: 83,335,658 (GRCm39) |
Q280L |
probably damaging |
Het |
| Mppe1 |
C |
T |
18: 67,370,488 (GRCm39) |
A70T |
probably damaging |
Het |
| Mtif3 |
T |
G |
5: 146,895,757 (GRCm39) |
D110A |
possibly damaging |
Het |
| Mtss2 |
G |
A |
8: 111,464,268 (GRCm39) |
R361H |
possibly damaging |
Het |
| Mvp |
T |
C |
7: 126,591,483 (GRCm39) |
D542G |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,133,174 (GRCm39) |
C940R |
probably damaging |
Het |
| Nmur2 |
C |
T |
11: 55,917,808 (GRCm39) |
V394I |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,965,624 (GRCm39) |
H1736R |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,934 (GRCm39) |
I266T |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,827,611 (GRCm39) |
F182Y |
unknown |
Het |
| Purg |
A |
G |
8: 33,906,661 (GRCm39) |
Y317C |
possibly damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,765,013 (GRCm39) |
M880L |
probably benign |
Het |
| Rap1gap |
T |
C |
4: 137,447,293 (GRCm39) |
F413L |
possibly damaging |
Het |
| Sart3 |
A |
T |
5: 113,892,440 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
G |
A |
16: 90,026,740 (GRCm39) |
Q1026* |
probably null |
Het |
| Slc26a1 |
A |
G |
5: 108,819,735 (GRCm39) |
L504P |
probably damaging |
Het |
| Slc35d1 |
C |
A |
4: 103,065,330 (GRCm39) |
V184L |
|
Het |
| Slc5a11 |
C |
T |
7: 122,864,421 (GRCm39) |
A339V |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,705,028 (GRCm39) |
M1780K |
probably benign |
Het |
| Tas1r2 |
G |
A |
4: 139,387,056 (GRCm39) |
D172N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,188,243 (GRCm39) |
I896M |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,624,752 (GRCm39) |
P1733S |
probably damaging |
Het |
| Thoc1 |
A |
T |
18: 9,986,343 (GRCm39) |
K358N |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
A |
C |
15: 88,818,132 (GRCm39) |
L181R |
probably damaging |
Het |
| Ubl4b |
G |
A |
3: 107,461,784 (GRCm39) |
Q159* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,893,732 (GRCm39) |
H967R |
not run |
Het |
| Zeb2 |
T |
C |
2: 44,884,544 (GRCm39) |
D1049G |
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 |
|
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'- CCCATGTTCAACTATTTTGGATAGAGG -3'
(R):5'- TTTATTTTGGGACGCGGACAC -3'
Sequencing Primer
(F):5'- GAGTCAAGATTTTCTTACAGCAA -3'
(R):5'- CGCGGACACACAAGCAGATTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation