Incidental Mutation 'R6920:Brip1'
ID |
539594 |
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 |
045040-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6920 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 86039362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 391
(Q391*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
AlphaFold |
Q5SXJ3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044423
AA Change: Q391*
|
SMART Domains |
Protein: ENSMUSP00000043108 Gene: ENSMUSG00000034329 AA Change: Q391*
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: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
Validation Efficiency |
100% (65/65) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,773,811 (GRCm39) |
Y1000F |
probably damaging |
Het |
1700018B08Rik |
A |
G |
8: 122,262,160 (GRCm39) |
|
probably null |
Het |
Aadat |
T |
C |
8: 60,982,467 (GRCm39) |
F245L |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,403,227 (GRCm39) |
L1575W |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,782,231 (GRCm39) |
T421S |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,475,097 (GRCm39) |
I155N |
probably damaging |
Het |
Arnt |
T |
C |
3: 95,397,932 (GRCm39) |
F572L |
probably damaging |
Het |
Brpf3 |
C |
A |
17: 29,042,970 (GRCm39) |
H1004N |
probably benign |
Het |
Cand2 |
T |
A |
6: 115,768,250 (GRCm39) |
V465D |
possibly damaging |
Het |
Card10 |
G |
T |
15: 78,686,609 (GRCm39) |
Y69* |
probably null |
Het |
Catsperd |
A |
T |
17: 56,962,175 (GRCm39) |
K450* |
probably null |
Het |
Ccdc137 |
T |
C |
11: 120,351,009 (GRCm39) |
L137P |
probably damaging |
Het |
Cic |
T |
C |
7: 24,990,107 (GRCm39) |
S1905P |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,507,601 (GRCm39) |
G2971S |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,379,496 (GRCm39) |
Y183H |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,834,396 (GRCm39) |
Y167H |
unknown |
Het |
E330034G19Rik |
A |
G |
14: 24,358,310 (GRCm39) |
K214R |
unknown |
Het |
Fam180a |
T |
G |
6: 35,290,765 (GRCm39) |
I73L |
possibly damaging |
Het |
Fbxo28 |
G |
T |
1: 182,168,986 (GRCm39) |
H51N |
probably benign |
Het |
Gm12728 |
T |
G |
4: 105,647,533 (GRCm39) |
|
probably null |
Het |
Gm973 |
T |
C |
1: 59,591,620 (GRCm39) |
C335R |
possibly damaging |
Het |
Gpx8 |
A |
G |
13: 113,179,770 (GRCm39) |
V177A |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
Htt |
T |
G |
5: 35,034,444 (GRCm39) |
Y1972D |
probably null |
Het |
Igkv6-14 |
T |
C |
6: 70,412,116 (GRCm39) |
Y56C |
possibly damaging |
Het |
Kcnma1 |
A |
G |
14: 23,576,602 (GRCm39) |
|
probably null |
Het |
Klc1 |
T |
C |
12: 111,754,019 (GRCm39) |
S105P |
probably damaging |
Het |
Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,798,701 (GRCm39) |
D469G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Mboat4 |
G |
A |
8: 34,591,865 (GRCm39) |
R434H |
probably benign |
Het |
Mttp |
T |
C |
3: 137,821,043 (GRCm39) |
K270E |
possibly damaging |
Het |
Muc5ac |
G |
A |
7: 141,347,035 (GRCm39) |
C337Y |
possibly damaging |
Het |
Nars1 |
A |
G |
18: 64,634,471 (GRCm39) |
V484A |
probably damaging |
Het |
Noxa1 |
G |
T |
2: 24,981,844 (GRCm39) |
|
probably null |
Het |
Or14c45 |
A |
G |
7: 86,176,522 (GRCm39) |
T186A |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,786,821 (GRCm39) |
L63H |
probably damaging |
Het |
Osbpl7 |
G |
A |
11: 96,941,584 (GRCm39) |
G36S |
probably damaging |
Het |
P4htm |
C |
T |
9: 108,460,812 (GRCm39) |
G220D |
probably benign |
Het |
Pcdhga7 |
A |
G |
18: 37,848,199 (GRCm39) |
I69V |
probably benign |
Het |
Pla2g4e |
C |
T |
2: 120,015,795 (GRCm39) |
E250K |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,604,994 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
C |
A |
7: 45,008,231 (GRCm39) |
G213V |
possibly damaging |
Het |
Ppp1r1a |
A |
G |
15: 103,441,513 (GRCm39) |
S67P |
probably damaging |
Het |
Prss43 |
T |
C |
9: 110,657,680 (GRCm39) |
F193S |
probably benign |
Het |
Rfx1 |
A |
G |
8: 84,822,117 (GRCm39) |
Y872C |
probably damaging |
Het |
Rhot1 |
T |
A |
11: 80,132,921 (GRCm39) |
N218K |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,757,021 (GRCm39) |
F1028L |
probably damaging |
Het |
Siglec1 |
G |
A |
2: 130,919,997 (GRCm39) |
Q845* |
probably null |
Het |
Slc38a9 |
C |
T |
13: 112,838,060 (GRCm39) |
T275I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,497,470 (GRCm39) |
S481T |
probably damaging |
Het |
Ssr1 |
A |
T |
13: 38,169,998 (GRCm39) |
N191K |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,757 (GRCm39) |
S2258C |
probably damaging |
Het |
Tm7sf3 |
T |
G |
6: 146,507,645 (GRCm39) |
R472S |
possibly damaging |
Het |
Tmprss11a |
G |
A |
5: 86,576,494 (GRCm39) |
T119M |
probably benign |
Het |
Traip |
C |
T |
9: 107,838,240 (GRCm39) |
R142* |
probably null |
Het |
Utrn |
T |
C |
10: 12,626,214 (GRCm39) |
N100D |
probably damaging |
Het |
Vmn1r74 |
T |
C |
7: 11,581,575 (GRCm39) |
S292P |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,273,108 (GRCm39) |
I641F |
probably damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,996,912 (GRCm39) |
Y119F |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,285,510 (GRCm39) |
N110S |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,642,057 (GRCm39) |
T928A |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,121,337 (GRCm39) |
K83N |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,982 (GRCm39) |
H737R |
probably benign |
Het |
Zswim4 |
T |
C |
8: 84,940,714 (GRCm39) |
N795S |
probably benign |
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 |
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'- ATAGCACACATCTCGTAGGGG -3'
(R):5'- CCATTGGTGCCTTGATCCAAAG -3'
Sequencing Primer
(F):5'- ACATCTCGTAGGGGCTCGTG -3'
(R):5'- CACATTTTCATTGAGAGATTGGCTGC -3'
|
Posted On |
2018-11-06 |