Incidental Mutation 'R7347:Brip1'
| ID |
570299 |
| 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 |
045374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7347 (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 T
at 86029929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 572
(G572R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044423
AA Change: G572R
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: G572R
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
G |
T |
3: 104,985,728 (GRCm39) |
R47S |
unknown |
Het |
| Abtb2 |
T |
G |
2: 103,397,757 (GRCm39) |
I229S |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,727,441 (GRCm39) |
L457P |
probably damaging |
Het |
| Amer3 |
C |
A |
1: 34,626,983 (GRCm39) |
D407E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,760,335 (GRCm39) |
S729P |
probably benign |
Het |
| Asap2 |
T |
G |
12: 21,279,458 (GRCm39) |
I418S |
probably benign |
Het |
| Atp5mf |
T |
C |
5: 145,125,295 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
T |
A |
1: 146,777,824 (GRCm39) |
V757E |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,215 (GRCm39) |
R462L |
probably benign |
Het |
| Cat |
T |
A |
2: 103,293,643 (GRCm39) |
H395L |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,098,656 (GRCm39) |
P814Q |
probably damaging |
Het |
| Cela3a |
T |
C |
4: 137,129,917 (GRCm39) |
N235D |
possibly damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,076,094 (GRCm39) |
G993W |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,218,484 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,654 (GRCm39) |
H29N |
probably benign |
Het |
| Dll3 |
C |
T |
7: 27,998,536 (GRCm39) |
R143H |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,784,530 (GRCm39) |
*114R |
probably null |
Het |
| Ecm2 |
T |
C |
13: 49,668,554 (GRCm39) |
S86P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,724 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,644,328 (GRCm39) |
|
probably null |
Het |
| Exph5 |
A |
G |
9: 53,287,196 (GRCm39) |
N1426D |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,586 (GRCm39) |
F110L |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,517,191 (GRCm39) |
E1032V |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,907,205 (GRCm39) |
H556L |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,740,299 (GRCm39) |
Y344N |
probably benign |
Het |
| Glrx3 |
C |
A |
7: 137,061,015 (GRCm39) |
D216E |
possibly damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,499 (GRCm39) |
C246S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,949,689 (GRCm39) |
L137P |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,116,616 (GRCm39) |
T169A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,326,994 (GRCm39) |
T4778P |
probably benign |
Het |
| Ifna15 |
A |
G |
4: 88,476,220 (GRCm39) |
L88P |
probably damaging |
Het |
| Inhca |
T |
A |
9: 103,159,845 (GRCm39) |
E22V |
possibly damaging |
Het |
| Kcnab1 |
G |
A |
3: 65,283,952 (GRCm39) |
R390H |
probably benign |
Het |
| Kng1 |
C |
A |
16: 22,886,537 (GRCm39) |
H161N |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,902,878 (GRCm39) |
V199A |
probably benign |
Het |
| Lrig3 |
G |
A |
10: 125,845,835 (GRCm39) |
V755M |
probably damaging |
Het |
| Mad1l1 |
C |
T |
5: 140,129,799 (GRCm39) |
R412H |
probably damaging |
Het |
| Marchf6 |
C |
A |
15: 31,486,505 (GRCm39) |
C350F |
probably benign |
Het |
| Mastl |
A |
G |
2: 23,023,401 (GRCm39) |
S441P |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,590,951 (GRCm39) |
M231L |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,981,358 (GRCm39) |
V444A |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,787 (GRCm39) |
M516V |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,790,413 (GRCm39) |
F1110L |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,460,147 (GRCm39) |
L381* |
probably null |
Het |
| Nln |
T |
C |
13: 104,187,355 (GRCm39) |
K325E |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,663 (GRCm39) |
P271S |
probably benign |
Het |
| Obox6 |
A |
C |
7: 15,568,571 (GRCm39) |
L102V |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,799 (GRCm39) |
S227G |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,615 (GRCm39) |
I109V |
possibly damaging |
Het |
| Or7g33 |
A |
G |
9: 19,448,395 (GRCm39) |
M277T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,181 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,294 (GRCm39) |
H567R |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,343,759 (GRCm39) |
S760L |
possibly damaging |
Het |
| Pid1 |
T |
A |
1: 84,136,850 (GRCm39) |
I94L |
unknown |
Het |
| Plekhn1 |
T |
C |
4: 156,307,128 (GRCm39) |
H474R |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,776,988 (GRCm39) |
S329T |
possibly damaging |
Het |
| Pros1 |
G |
T |
16: 62,739,886 (GRCm39) |
R445L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,062,260 (GRCm39) |
H1370Q |
probably benign |
Het |
| Sgce |
T |
A |
6: 4,694,106 (GRCm39) |
R283S |
probably damaging |
Het |
| Slc25a20 |
T |
G |
9: 108,559,657 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,779 (GRCm39) |
V446A |
probably damaging |
Het |
| Slc6a4 |
C |
G |
11: 76,907,911 (GRCm39) |
Y358* |
probably null |
Het |
| Sned1 |
A |
C |
1: 93,209,458 (GRCm39) |
E857A |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,548 (GRCm39) |
L544Q |
probably benign |
Het |
| Spata31e3 |
T |
C |
13: 50,399,780 (GRCm39) |
I849V |
probably benign |
Het |
| Spdye4b |
C |
T |
5: 143,188,145 (GRCm39) |
R213C |
possibly damaging |
Het |
| Spry2 |
T |
G |
14: 106,130,946 (GRCm39) |
E80A |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,497,015 (GRCm39) |
C142Y |
probably benign |
Het |
| Sync |
A |
T |
4: 129,188,099 (GRCm39) |
Q377L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,185,117 (GRCm39) |
C718R |
|
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmbim1 |
T |
C |
1: 74,330,438 (GRCm39) |
E185G |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,019,330 (GRCm39) |
M1031V |
probably damaging |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,428 (GRCm39) |
V87I |
not run |
Het |
| Vmn2r49 |
A |
G |
7: 9,720,741 (GRCm39) |
V250A |
probably benign |
Het |
| Yipf3 |
A |
C |
17: 46,561,753 (GRCm39) |
T187P |
probably damaging |
Het |
| Zfp148 |
G |
T |
16: 33,255,160 (GRCm39) |
R50L |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
|
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'- TTAATATCTGAAAAGGCCTGCAAGG -3'
(R):5'- GGAAGGCATGACACTGTTCAG -3'
Sequencing Primer
(F):5'- GGCCTGCAAGGAAACACCAG -3'
(R):5'- CACTGTTCAGTTTTGAAGTTACCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation