Incidental Mutation 'R0834:Brip1'
| ID |
77747 |
| 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 |
039013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86083653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 123
(T123A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044423
AA Change: T123A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: T123A
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149748
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (86/86) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,063,899 (GRCm39) |
E66V |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,062,658 (GRCm39) |
I156V |
probably benign |
Het |
| Ang4 |
T |
A |
14: 52,001,725 (GRCm39) |
K74N |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,670,172 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
A |
17: 80,655,026 (GRCm39) |
|
probably benign |
Het |
| Atn1 |
A |
G |
6: 124,720,188 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
A |
G |
6: 146,724,185 (GRCm39) |
H359R |
probably damaging |
Het |
| Bmerb1 |
T |
C |
16: 13,911,795 (GRCm39) |
L47P |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,823,045 (GRCm39) |
Y95C |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,095,211 (GRCm39) |
S340T |
probably benign |
Het |
| Ckap2l |
G |
A |
2: 129,138,224 (GRCm39) |
|
probably benign |
Het |
| Clmn |
A |
T |
12: 104,738,085 (GRCm39) |
L1042Q |
probably damaging |
Het |
| Clmn |
G |
T |
12: 104,738,086 (GRCm39) |
L1042M |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,554,631 (GRCm39) |
V737A |
probably benign |
Het |
| Cpne8 |
A |
G |
15: 90,424,462 (GRCm39) |
V309A |
probably benign |
Het |
| Cpxm2 |
T |
A |
7: 131,756,342 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,747,073 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,650,159 (GRCm39) |
S818T |
probably benign |
Het |
| Cyp26a1 |
C |
T |
19: 37,688,405 (GRCm39) |
A309V |
probably damaging |
Het |
| Dbndd2 |
C |
T |
2: 164,332,122 (GRCm39) |
T115I |
possibly damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,394,964 (GRCm39) |
N157S |
probably benign |
Het |
| Dlx2 |
C |
A |
2: 71,375,859 (GRCm39) |
V155F |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,982 (GRCm39) |
I1470F |
probably damaging |
Het |
| Esrrb |
A |
T |
12: 86,517,071 (GRCm39) |
I68F |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,862 (GRCm39) |
L1347* |
probably null |
Het |
| Fip1l1 |
T |
C |
5: 74,755,721 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,413,637 (GRCm39) |
Y1966C |
probably damaging |
Het |
| Gatd3a |
T |
C |
10: 77,998,539 (GRCm39) |
D229G |
probably damaging |
Het |
| Ggt5 |
C |
T |
10: 75,440,604 (GRCm39) |
R242C |
possibly damaging |
Het |
| Gm14496 |
G |
A |
2: 181,637,480 (GRCm39) |
V185I |
probably benign |
Het |
| Gnptab |
T |
C |
10: 88,265,814 (GRCm39) |
V409A |
probably damaging |
Het |
| Gramd1a |
A |
G |
7: 30,837,589 (GRCm39) |
F390S |
possibly damaging |
Het |
| Helz2 |
A |
G |
2: 180,872,570 (GRCm39) |
S2477P |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,236,936 (GRCm39) |
K3E |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,414,715 (GRCm39) |
H1395R |
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,609,855 (GRCm39) |
C180S |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 33,870,289 (GRCm39) |
S160A |
possibly damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,979 (GRCm39) |
I343T |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,967,712 (GRCm39) |
E334G |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,508,491 (GRCm39) |
K482E |
possibly damaging |
Het |
| Lig3 |
A |
G |
11: 82,689,113 (GRCm39) |
E794G |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
| Ndst2 |
A |
G |
14: 20,779,761 (GRCm39) |
Y160H |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,941,648 (GRCm39) |
M90V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,024,104 (GRCm39) |
K522R |
probably benign |
Het |
| Olfml2b |
T |
C |
1: 170,475,413 (GRCm39) |
S113P |
probably benign |
Het |
| Or14a257 |
T |
A |
7: 86,138,698 (GRCm39) |
E20D |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,423 (GRCm39) |
I269T |
probably benign |
Het |
| Or4d10b |
T |
A |
19: 12,036,979 (GRCm39) |
M46L |
probably benign |
Het |
| Or51v14 |
T |
C |
7: 103,261,444 (GRCm39) |
T39A |
probably benign |
Het |
| Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
| Parg |
T |
C |
14: 31,936,511 (GRCm39) |
|
probably benign |
Het |
| Pde7a |
C |
T |
3: 19,284,482 (GRCm39) |
C367Y |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,772,281 (GRCm39) |
C166* |
probably null |
Het |
| Pip4k2c |
A |
T |
10: 127,036,704 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prkd2 |
A |
T |
7: 16,599,602 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
G |
T |
2: 161,654,059 (GRCm39) |
|
probably null |
Het |
| Rapgef5 |
C |
T |
12: 117,610,741 (GRCm39) |
|
probably benign |
Het |
| Retreg1 |
T |
C |
15: 25,971,756 (GRCm39) |
L356P |
probably benign |
Het |
| Rigi |
T |
A |
4: 40,239,596 (GRCm39) |
E34V |
possibly damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,077 (GRCm39) |
T393A |
probably benign |
Het |
| Samd3 |
T |
C |
10: 26,147,725 (GRCm39) |
S467P |
probably benign |
Het |
| Scarf1 |
C |
A |
11: 75,405,229 (GRCm39) |
C89* |
probably null |
Het |
| Sdk1 |
T |
C |
5: 141,227,779 (GRCm39) |
L59S |
probably benign |
Het |
| Sgca |
C |
T |
11: 94,861,512 (GRCm39) |
W244* |
probably null |
Het |
| Sh3d21 |
T |
C |
4: 126,045,065 (GRCm39) |
K538R |
probably benign |
Het |
| Smyd4 |
T |
A |
11: 75,281,958 (GRCm39) |
L477Q |
possibly damaging |
Het |
| Sra1 |
A |
G |
18: 36,801,829 (GRCm39) |
M87T |
probably benign |
Het |
| Ssh2 |
T |
C |
11: 77,328,459 (GRCm39) |
Y336H |
possibly damaging |
Het |
| Steap1 |
T |
C |
5: 5,790,357 (GRCm39) |
Y197C |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,673,879 (GRCm39) |
|
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,868,677 (GRCm39) |
T205A |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,101,512 (GRCm39) |
T374I |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,971,870 (GRCm39) |
D782Y |
possibly damaging |
Het |
| Trim10 |
G |
A |
17: 37,183,283 (GRCm39) |
S193N |
probably benign |
Het |
| Ttf1 |
A |
T |
2: 28,963,962 (GRCm39) |
K613* |
probably null |
Het |
| Tube1 |
T |
A |
10: 39,010,168 (GRCm39) |
|
probably null |
Het |
| Uimc1 |
T |
A |
13: 55,224,222 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
G |
T |
8: 108,283,428 (GRCm39) |
|
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,601,418 (GRCm39) |
V113I |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,809,114 (GRCm39) |
D1310G |
probably benign |
Het |
| Zfp575 |
A |
T |
7: 24,285,245 (GRCm39) |
L132H |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 57,194,420 (GRCm39) |
F1226S |
probably damaging |
Het |
| Zswim6 |
A |
C |
13: 107,862,989 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TGTCGTCAGCAGCAACAACAGTAA -3'
(R):5'- AGAAACTTCCAATCGTTGGGAACTGTG -3'
Sequencing Primer
(F):5'- ggtgggaggggagaatgg -3'
(R):5'- GAACTGTGGTGGTTGCTTAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation