Incidental Mutation 'R7253:Brip1'
| ID |
564099 |
| 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 |
045314-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86034104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 539
(Y539C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: Y539C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: Y539C
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (74/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,391 (GRCm39) |
H199R |
not run |
Het |
| Ak9 |
A |
G |
10: 41,308,480 (GRCm39) |
N1804S |
unknown |
Het |
| Akr1c21 |
C |
A |
13: 4,627,139 (GRCm39) |
T147N |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,123,216 (GRCm39) |
T30A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,236,724 (GRCm39) |
D447G |
probably damaging |
Het |
| Amigo2 |
T |
C |
15: 97,142,956 (GRCm39) |
I489V |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,350 (GRCm39) |
Y322N |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,389,576 (GRCm39) |
W583L |
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,916,084 (GRCm39) |
E430G |
probably damaging |
Het |
| C87436 |
T |
A |
6: 86,442,790 (GRCm39) |
L454Q |
probably damaging |
Het |
| Casp4 |
T |
G |
9: 5,324,868 (GRCm39) |
Y227D |
probably benign |
Het |
| Ccn6 |
T |
G |
10: 39,031,031 (GRCm39) |
N164T |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,083,555 (GRCm39) |
|
probably null |
Het |
| Chrna10 |
A |
G |
7: 101,761,293 (GRCm39) |
C433R |
probably benign |
Het |
| Cntln |
A |
T |
4: 85,036,710 (GRCm39) |
N214I |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,848,922 (GRCm39) |
V367I |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,318,255 (GRCm39) |
I222T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,239,945 (GRCm39) |
|
probably null |
Het |
| Dcaf7 |
C |
A |
11: 105,938,669 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,602,164 (GRCm39) |
|
probably null |
Het |
| Fam184a |
G |
T |
10: 53,574,901 (GRCm39) |
T236K |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,661 (GRCm39) |
T451A |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,452,944 (GRCm39) |
K484E |
possibly damaging |
Het |
| Hspbap1 |
G |
T |
16: 35,637,600 (GRCm39) |
C243F |
unknown |
Het |
| Hspg2 |
A |
C |
4: 137,247,257 (GRCm39) |
N1160T |
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,728 (GRCm39) |
L48F |
probably benign |
Het |
| Jazf1 |
C |
A |
6: 52,754,637 (GRCm39) |
E146D |
probably benign |
Het |
| Katnb1 |
C |
T |
8: 95,822,125 (GRCm39) |
Q284* |
probably null |
Het |
| Kctd18 |
G |
T |
1: 58,001,115 (GRCm39) |
Y213* |
probably null |
Het |
| Klk1b26 |
T |
C |
7: 43,664,213 (GRCm39) |
S23P |
possibly damaging |
Het |
| Krt88 |
T |
C |
15: 101,348,392 (GRCm39) |
L26P |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,629,522 (GRCm39) |
V623I |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,490,955 (GRCm39) |
M159L |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,242,326 (GRCm39) |
|
probably null |
Het |
| Mier1 |
G |
A |
4: 102,996,544 (GRCm39) |
|
probably null |
Het |
| Mrpl46 |
T |
C |
7: 78,431,207 (GRCm39) |
D117G |
probably damaging |
Het |
| Ms4a6b |
A |
G |
19: 11,497,760 (GRCm39) |
S20G |
probably benign |
Het |
| Mup10 |
A |
T |
4: 60,538,077 (GRCm39) |
M4K |
unknown |
Het |
| Nlrp5 |
C |
T |
7: 23,116,816 (GRCm39) |
A180V |
possibly damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,176,001 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,913,767 (GRCm39) |
T2A |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,744 (GRCm39) |
F251L |
probably damaging |
Het |
| Or2t45 |
T |
C |
11: 58,669,822 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,969 (GRCm39) |
T36A |
possibly damaging |
Het |
| Or51aa2 |
C |
T |
7: 103,187,995 (GRCm39) |
A149T |
probably benign |
Het |
| Or5af2 |
T |
A |
11: 58,708,366 (GRCm39) |
C177* |
probably null |
Het |
| Or5ak22 |
A |
G |
2: 85,229,983 (GRCm39) |
I298T |
probably benign |
Het |
| Otud1 |
C |
A |
2: 19,663,742 (GRCm39) |
D290E |
probably damaging |
Het |
| Pank4 |
A |
G |
4: 155,055,377 (GRCm39) |
N249S |
probably benign |
Het |
| Pccb |
G |
T |
9: 100,913,966 (GRCm39) |
S84R |
probably benign |
Het |
| Pemt |
A |
T |
11: 59,862,081 (GRCm39) |
H194Q |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,970,856 (GRCm39) |
I634T |
possibly damaging |
Het |
| Pias2 |
T |
G |
18: 77,207,811 (GRCm39) |
I232R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,686,952 (GRCm39) |
E620G |
probably damaging |
Het |
| Pramel17 |
A |
T |
4: 101,692,725 (GRCm39) |
V425E |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,713,150 (GRCm39) |
E1758K |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,444,134 (GRCm39) |
Q1490L |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,132,368 (GRCm39) |
M296I |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,317,644 (GRCm39) |
P464L |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,589,733 (GRCm39) |
E258G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Senp8 |
T |
C |
9: 59,644,478 (GRCm39) |
N226S |
probably benign |
Het |
| Six5 |
C |
T |
7: 18,828,901 (GRCm39) |
R114C |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,958 (GRCm39) |
T195A |
probably benign |
Het |
| Slpi |
G |
T |
2: 164,197,467 (GRCm39) |
Q51K |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,570,256 (GRCm39) |
V753A |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 56,074,537 (GRCm39) |
M225I |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,208,770 (GRCm39) |
G18C |
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,558 (GRCm39) |
V57I |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,177,313 (GRCm39) |
P336T |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,633 (GRCm39) |
I264V |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,343,826 (GRCm39) |
E2022D |
probably benign |
Het |
| Zfp975 |
A |
G |
7: 42,311,036 (GRCm39) |
*526R |
probably null |
Het |
| Zp1 |
A |
G |
19: 10,893,933 (GRCm39) |
L424P |
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 |
|
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'- CTGTGTGCACGTGTACTACA -3'
(R):5'- CCCTCTACCCACTTAATGAATGAT -3'
Sequencing Primer
(F):5'- CTTGACACAGGCTGGAGTTATCAC -3'
(R):5'- GATACGGTAATTTCTTACAGAGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation