Incidental Mutation 'R0653:Brip1'
| ID |
62396 |
| 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 |
038838-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0653 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86043484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 360
(E360G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: E360G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: E360G
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,066,371 (GRCm39) |
R612* |
probably null |
Het |
| Adgra1 |
A |
G |
7: 139,456,063 (GRCm39) |
T564A |
probably damaging |
Het |
| Akr1c18 |
A |
T |
13: 4,195,307 (GRCm39) |
D50E |
probably damaging |
Het |
| Atg9a |
C |
A |
1: 75,166,972 (GRCm39) |
L26F |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,893,343 (GRCm39) |
T899A |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,910,841 (GRCm39) |
E358G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,019,970 (GRCm39) |
Y131C |
probably damaging |
Het |
| Casd1 |
A |
T |
6: 4,608,075 (GRCm39) |
I76L |
probably benign |
Het |
| Casq2 |
G |
A |
3: 102,020,482 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
T |
A |
1: 182,575,129 (GRCm39) |
Q520L |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,392,183 (GRCm39) |
K550E |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,262,418 (GRCm39) |
S521P |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,340,257 (GRCm39) |
V705E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,225,789 (GRCm39) |
Y792H |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,950,995 (GRCm39) |
C73S |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,279,509 (GRCm39) |
|
probably null |
Het |
| Farp1 |
T |
C |
14: 121,471,258 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,790 (GRCm39) |
E234G |
probably benign |
Het |
| Gtf3c5 |
A |
T |
2: 28,468,008 (GRCm39) |
M151K |
probably benign |
Het |
| Hgs |
G |
A |
11: 120,359,904 (GRCm39) |
R36H |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,937,653 (GRCm39) |
Q279* |
probably null |
Het |
| Lysmd4 |
T |
A |
7: 66,875,788 (GRCm39) |
D150E |
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,518,242 (GRCm39) |
K186E |
probably damaging |
Het |
| Myo9a |
A |
C |
9: 59,832,274 (GRCm39) |
Q2601P |
probably damaging |
Het |
| Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
| Nr5a2 |
A |
G |
1: 136,876,543 (GRCm39) |
V40A |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,898,534 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
C |
A |
11: 49,322,078 (GRCm39) |
Y258* |
probably null |
Het |
| Or4c114 |
A |
G |
2: 88,904,808 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,934 (GRCm39) |
N84S |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,732,269 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,118,228 (GRCm39) |
I2939V |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,657,256 (GRCm39) |
K470I |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,524,955 (GRCm39) |
I1050T |
possibly damaging |
Het |
| Scaf11 |
G |
T |
15: 96,316,522 (GRCm39) |
S17* |
probably null |
Het |
| Scn9a |
A |
T |
2: 66,363,721 (GRCm39) |
N841K |
probably damaging |
Het |
| Slc35e3 |
C |
A |
10: 117,576,711 (GRCm39) |
E207* |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,377 (GRCm39) |
F503L |
probably damaging |
Het |
| Spag16 |
G |
T |
1: 69,909,504 (GRCm39) |
K200N |
probably damaging |
Het |
| Supt6 |
G |
T |
11: 78,116,841 (GRCm39) |
Q604K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,469,550 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,964,503 (GRCm39) |
H889Q |
probably damaging |
Het |
| Tmed6 |
A |
T |
8: 107,792,283 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
A |
T |
11: 115,705,887 (GRCm39) |
E68V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,559,878 (GRCm39) |
S21181P |
probably damaging |
Het |
| Ube3d |
A |
T |
9: 86,334,043 (GRCm39) |
M33K |
possibly damaging |
Het |
| Umodl1 |
C |
A |
17: 31,203,002 (GRCm39) |
Q452K |
probably benign |
Het |
| Wif1 |
G |
T |
10: 120,935,704 (GRCm39) |
A354S |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,210,492 (GRCm39) |
F1788L |
possibly damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,673,440 (GRCm39) |
I1497F |
possibly damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp30 |
G |
A |
7: 29,492,178 (GRCm39) |
R225Q |
probably damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,190 (GRCm39) |
E296G |
probably damaging |
Het |
| Zfp874b |
A |
G |
13: 67,623,052 (GRCm39) |
F86S |
possibly damaging |
Het |
| Zfyve19 |
A |
G |
2: 119,041,696 (GRCm39) |
S88G |
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 |
|
|
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 |
|
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'- AGAAAGCAGTAACTGGCTACACCTAACT -3'
(R):5'- TTCAGGGGAAGTCCTGCTATTTCTATCA -3'
Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- AATCAGCAGACACTGCAGCA -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation