Incidental Mutation 'R0446:Brip1'
| ID |
39396 |
| 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 |
038647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86048427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 305
(L305Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044423
AA Change: L305Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: L305Q
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,766 (GRCm39) |
T42A |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,730 (GRCm39) |
I181K |
probably damaging |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,992 (GRCm39) |
E82G |
probably benign |
Het |
| Bag1 |
G |
A |
4: 40,936,609 (GRCm39) |
T349I |
probably benign |
Het |
| Cdipt |
A |
G |
7: 126,577,436 (GRCm39) |
T61A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,230,164 (GRCm39) |
R1641S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,536,295 (GRCm39) |
D515G |
probably benign |
Het |
| Cpsf4 |
T |
A |
5: 145,114,054 (GRCm39) |
L171Q |
probably damaging |
Het |
| Cstpp1 |
G |
A |
2: 91,135,109 (GRCm39) |
T20I |
possibly damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,918,009 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,873,101 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
G |
18: 37,986,643 (GRCm39) |
V1114A |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,452,348 (GRCm39) |
K211* |
probably null |
Het |
| Fam170a |
T |
A |
18: 50,413,699 (GRCm39) |
C55S |
possibly damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,572,788 (GRCm39) |
S119P |
probably benign |
Het |
| Fhip2a |
G |
A |
19: 57,369,839 (GRCm39) |
D461N |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,254,760 (GRCm39) |
T894M |
possibly damaging |
Het |
| Gad1-ps |
C |
A |
10: 99,281,383 (GRCm39) |
|
noncoding transcript |
Het |
| Gss |
T |
C |
2: 155,409,665 (GRCm39) |
E257G |
probably benign |
Het |
| Klhdc1 |
A |
C |
12: 69,330,082 (GRCm39) |
S404R |
probably benign |
Het |
| Kmt2e |
T |
A |
5: 23,702,532 (GRCm39) |
|
probably null |
Het |
| Krt20 |
G |
A |
11: 99,328,602 (GRCm39) |
Q108* |
probably null |
Het |
| Lmnb1 |
T |
A |
18: 56,876,331 (GRCm39) |
S480T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,633 (GRCm39) |
M1015K |
probably benign |
Het |
| Mdm1 |
T |
G |
10: 117,987,961 (GRCm39) |
S290A |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,426,439 (GRCm39) |
F238I |
probably damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,984 (GRCm39) |
V189A |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,614 (GRCm39) |
E8K |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,282,659 (GRCm39) |
I747V |
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,784,337 (GRCm39) |
R43W |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,886,238 (GRCm39) |
|
probably benign |
Het |
| Or10d3 |
A |
T |
9: 39,461,747 (GRCm39) |
I140N |
probably damaging |
Het |
| Or5p57 |
A |
T |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or5w20 |
T |
C |
2: 87,727,199 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,384 (GRCm39) |
S160T |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,478,024 (GRCm39) |
V305A |
probably benign |
Het |
| Or8b53 |
G |
T |
9: 38,667,114 (GRCm39) |
L43F |
probably damaging |
Het |
| Orc5 |
C |
T |
5: 22,751,455 (GRCm39) |
V85I |
probably benign |
Het |
| Pccb |
T |
C |
9: 100,864,850 (GRCm39) |
D468G |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,375,110 (GRCm39) |
V1675E |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pltp |
A |
T |
2: 164,696,320 (GRCm39) |
N97K |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,927,648 (GRCm39) |
|
probably null |
Het |
| Prss42 |
G |
A |
9: 110,628,341 (GRCm39) |
V162I |
possibly damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,983,455 (GRCm39) |
Y269N |
probably damaging |
Het |
| Rftn2 |
A |
T |
1: 55,253,354 (GRCm39) |
I83K |
probably damaging |
Het |
| S1pr4 |
A |
T |
10: 81,334,823 (GRCm39) |
I217N |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,920,353 (GRCm39) |
K184R |
probably benign |
Het |
| Slc6a19 |
T |
C |
13: 73,839,814 (GRCm39) |
N156S |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,068,994 (GRCm39) |
H358L |
possibly damaging |
Het |
| Tex55 |
G |
A |
16: 38,649,064 (GRCm39) |
T15I |
probably benign |
Het |
| Tigit |
G |
T |
16: 43,482,634 (GRCm39) |
N33K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,707,878 (GRCm39) |
Y139C |
probably damaging |
Het |
| Trmt13 |
G |
A |
3: 116,376,275 (GRCm39) |
T372M |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,224 (GRCm39) |
M303K |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,417,207 (GRCm39) |
E2952G |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,389,920 (GRCm39) |
I4851F |
unknown |
Het |
| Zfand4 |
C |
T |
6: 116,265,015 (GRCm39) |
T160I |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,109,993 (GRCm39) |
T228A |
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 |
|
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 |
|
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'- CCCTTCATCTGACATTACCCATGTTCAA -3'
(R):5'- AACCAAGAGCCTGCAAATACTGTTAAGA -3'
Sequencing Primer
(F):5'- CATGTTCAACTATTTTGGATAGAGGG -3'
(R):5'- GCAAATACTGTTAAGAAAGATCACG -3'
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| Posted On |
2013-05-23 |
Incidental Mutation