Incidental Mutation 'R8236:Brip1'
| ID |
637369 |
| 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 |
067668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8236 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86029938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 569
(D569Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044423
AA Change: D569Y
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: D569Y
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
C |
T |
1: 85,974,115 (GRCm39) |
A144V |
possibly damaging |
Het |
| Actr8 |
A |
G |
14: 29,704,585 (GRCm39) |
I51M |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,671,747 (GRCm39) |
D143V |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,645,181 (GRCm39) |
S753R |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Bicdl1 |
T |
C |
5: 115,787,618 (GRCm39) |
H527R |
probably benign |
Het |
| Birc6 |
G |
C |
17: 74,918,126 (GRCm39) |
L1845F |
probably damaging |
Het |
| Cab39 |
T |
C |
1: 85,776,092 (GRCm39) |
L263P |
probably damaging |
Het |
| Cblb |
C |
A |
16: 51,986,392 (GRCm39) |
P545Q |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,160,722 (GRCm39) |
P1579Q |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 123,298,767 (GRCm39) |
E468G |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,097,024 (GRCm39) |
|
probably null |
Het |
| Coro2a |
A |
G |
4: 46,548,796 (GRCm39) |
I166T |
possibly damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,647,164 (GRCm39) |
A287T |
probably benign |
Het |
| Dcc |
C |
T |
18: 72,088,089 (GRCm39) |
V50I |
probably benign |
Het |
| Defb30 |
A |
T |
14: 63,287,216 (GRCm39) |
M19K |
unknown |
Het |
| Dync2h1 |
C |
A |
9: 7,080,363 (GRCm39) |
|
probably benign |
Het |
| Edc4 |
A |
G |
8: 106,618,905 (GRCm39) |
T1291A |
possibly damaging |
Het |
| Epyc |
A |
T |
10: 97,517,067 (GRCm39) |
N302Y |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,233,487 (GRCm39) |
T106I |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,059,729 (GRCm39) |
|
probably null |
Het |
| Fam171b |
G |
A |
2: 83,710,550 (GRCm39) |
E741K |
probably damaging |
Het |
| Fgfr1 |
G |
T |
8: 26,052,288 (GRCm39) |
E205* |
probably null |
Het |
| Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
| Gdpd3 |
A |
G |
7: 126,367,838 (GRCm39) |
K224E |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm43518 |
C |
T |
5: 124,072,285 (GRCm39) |
Q17* |
probably null |
Het |
| Gm4353 |
T |
C |
7: 115,682,618 (GRCm39) |
Y321C |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,711,311 (GRCm39) |
H631R |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,903,042 (GRCm39) |
|
probably null |
Het |
| Il9 |
T |
A |
13: 56,630,058 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,281 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
A |
T |
17: 89,050,014 (GRCm39) |
L504* |
probably null |
Het |
| Mical3 |
A |
G |
6: 120,989,504 (GRCm39) |
V272A |
|
Het |
| Mup10 |
A |
G |
4: 60,537,562 (GRCm39) |
I63T |
probably damaging |
Het |
| Mxi1 |
C |
G |
19: 53,358,029 (GRCm39) |
P165R |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,690,131 (GRCm39) |
I179F |
probably benign |
Het |
| Or5w14 |
T |
A |
2: 87,542,104 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,440,067 (GRCm38) |
H53R |
|
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Ptpn4 |
A |
G |
1: 119,606,552 (GRCm39) |
V781A |
possibly damaging |
Het |
| Ptprt |
C |
T |
2: 161,528,988 (GRCm39) |
|
probably null |
Het |
| Rtf1 |
T |
C |
2: 119,531,695 (GRCm39) |
S141P |
probably damaging |
Het |
| Slc2a1 |
G |
C |
4: 118,990,454 (GRCm39) |
S226T |
probably benign |
Het |
| Smyd3 |
A |
C |
1: 179,233,205 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
C |
17: 80,715,712 (GRCm39) |
E1015G |
probably benign |
Het |
| Sult1b1 |
G |
T |
5: 87,669,383 (GRCm39) |
T155N |
probably damaging |
Het |
| Tcam1 |
A |
G |
11: 106,177,243 (GRCm39) |
I412V |
probably benign |
Het |
| Tet2 |
G |
A |
3: 133,193,547 (GRCm39) |
P296S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,096,542 (GRCm39) |
D193G |
probably null |
Het |
| Trem2 |
G |
T |
17: 48,658,934 (GRCm39) |
W233L |
probably benign |
Het |
| Trpm3 |
C |
A |
19: 22,964,772 (GRCm39) |
D1422E |
probably benign |
Het |
| Ttbk1 |
T |
G |
17: 46,781,655 (GRCm39) |
D366A |
probably damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,547 (GRCm39) |
G148D |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,835 (GRCm39) |
M1259V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,032,281 (GRCm39) |
D553V |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,135 (GRCm39) |
S941P |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,393 (GRCm39) |
Y15H |
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 |
|
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 |
|
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'- AATATCTGAAAAGGCCTGCAAG -3'
(R):5'- GGGAAGGCATGACACTGTTC -3'
Sequencing Primer
(F):5'- TATCTGAAAAGGCCTGCAAGGAAAC -3'
(R):5'- CACTGTTCAGTTTTGAAGTTACCAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation