Incidental Mutation 'R4518:Brip1'
ID |
334084 |
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 |
041762-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4518 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 85968704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 827
(A827V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
AlphaFold |
Q5SXJ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: A827V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000043108 Gene: ENSMUSG00000034329 AA Change: A827V
Domain | Start | End | E-Value | Type |
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
Meta Mutation Damage Score |
0.5108 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (60/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082J24Rik |
T |
A |
5: 30,311,006 (GRCm39) |
|
probably null |
Het |
Abr |
A |
G |
11: 76,363,344 (GRCm39) |
S167P |
possibly damaging |
Het |
Adamtsl2 |
T |
C |
2: 26,985,559 (GRCm39) |
L481P |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
Carns1 |
T |
G |
19: 4,220,069 (GRCm39) |
T389P |
probably benign |
Het |
Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
Cckar |
T |
C |
5: 53,857,264 (GRCm39) |
N311S |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
Chpf |
G |
T |
1: 75,451,689 (GRCm39) |
S588R |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,514,466 (GRCm39) |
T414S |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,038,986 (GRCm39) |
E1092G |
probably damaging |
Het |
Crb2 |
C |
A |
2: 37,680,401 (GRCm39) |
T443K |
probably damaging |
Het |
Crppa |
G |
A |
12: 36,523,179 (GRCm39) |
V203I |
possibly damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,121,473 (GRCm39) |
V25A |
probably damaging |
Het |
Cyb561d1 |
T |
C |
3: 108,106,887 (GRCm39) |
I111V |
possibly damaging |
Het |
Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
Dnajb4 |
T |
C |
3: 151,890,813 (GRCm39) |
I329V |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,823,274 (GRCm39) |
D1055E |
probably benign |
Het |
Fam168a |
C |
T |
7: 100,483,247 (GRCm39) |
A176V |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,548,363 (GRCm39) |
E1016G |
probably benign |
Het |
Fibcd1 |
A |
T |
2: 31,707,207 (GRCm39) |
V350E |
probably damaging |
Het |
Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,749,625 (GRCm39) |
E3076K |
probably damaging |
Het |
Grm7 |
A |
G |
6: 110,891,507 (GRCm39) |
|
probably null |
Het |
Hcn2 |
T |
C |
10: 79,560,536 (GRCm39) |
V289A |
probably benign |
Het |
Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
Klf14 |
A |
G |
6: 30,934,867 (GRCm39) |
S256P |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,230,489 (GRCm39) |
T1214S |
probably benign |
Het |
Nlrp2 |
T |
A |
7: 5,328,055 (GRCm39) |
D666V |
possibly damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,100,263 (GRCm39) |
M150V |
probably benign |
Het |
Or7d9 |
A |
G |
9: 20,197,546 (GRCm39) |
I184V |
probably benign |
Het |
Or7g27 |
T |
A |
9: 19,250,556 (GRCm39) |
S267T |
possibly damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,024,289 (GRCm39) |
D360G |
probably benign |
Het |
Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
Pdss2 |
T |
A |
10: 43,248,146 (GRCm39) |
S217T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Prlr |
C |
A |
15: 10,329,085 (GRCm39) |
T520K |
possibly damaging |
Het |
Prokr2 |
T |
A |
2: 132,216,012 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
Reln |
T |
C |
5: 22,106,741 (GRCm39) |
I3210V |
probably benign |
Het |
Rims2 |
T |
C |
15: 39,300,922 (GRCm39) |
Y218H |
probably damaging |
Het |
Slc41a1 |
T |
C |
1: 131,766,863 (GRCm39) |
V127A |
probably damaging |
Het |
St8sia6 |
T |
A |
2: 13,797,562 (GRCm39) |
|
probably null |
Het |
Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,324,094 (GRCm39) |
Q314* |
probably null |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,743,124 (GRCm39) |
V445M |
possibly damaging |
Het |
Ypel1 |
A |
T |
16: 16,913,905 (GRCm39) |
F173I |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,477,578 (GRCm39) |
C3398R |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,657,820 (GRCm39) |
E697G |
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 |
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'- GATGTCTCAGTTGGCAAAGTG -3'
(R):5'- GCTGAAACACTCACACGTGC -3'
Sequencing Primer
(F):5'- GTGCTTGCCACAGTTTTCAAC -3'
(R):5'- CGTGCAAAACAAGATACCCTAAATC -3'
|
Posted On |
2015-08-18 |