Incidental Mutation 'R9104:Brip1'
| ID |
691915 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9104 (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 A
at 86077897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 177
(E177V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: E177V
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: E177V
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,023,108 (GRCm39) |
N127K |
probably damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,457,912 (GRCm39) |
A14V |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,205,858 (GRCm39) |
Y125C |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,711 (GRCm39) |
H2998Q |
probably benign |
Het |
| B3galt1 |
C |
A |
2: 67,948,406 (GRCm39) |
H40Q |
probably benign |
Het |
| Best3 |
T |
G |
10: 116,860,680 (GRCm39) |
L647V |
probably benign |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,109 (GRCm39) |
D246G |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,233 (GRCm39) |
T1622M |
probably benign |
Het |
| Catip |
G |
A |
1: 74,401,682 (GRCm39) |
|
probably null |
Het |
| Ccdc138 |
T |
C |
10: 58,348,982 (GRCm39) |
V176A |
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,526,879 (GRCm39) |
H243R |
probably damaging |
Het |
| Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
| Copz2 |
G |
A |
11: 96,747,514 (GRCm39) |
D166N |
possibly damaging |
Het |
| Dedd |
C |
T |
1: 171,168,572 (GRCm39) |
L253F |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,497,713 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,339,484 (GRCm39) |
S348T |
probably damaging |
Het |
| Eci3 |
A |
G |
13: 35,144,382 (GRCm39) |
|
probably null |
Het |
| Egr4 |
A |
G |
6: 85,490,337 (GRCm39) |
S15P |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,134,397 (GRCm39) |
T12A |
probably benign |
Het |
| Ewsr1 |
G |
T |
11: 5,041,367 (GRCm39) |
P113T |
unknown |
Het |
| Exosc10 |
T |
G |
4: 148,664,859 (GRCm39) |
L789R |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,525,161 (GRCm39) |
Y669C |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,836,517 (GRCm39) |
F333I |
probably damaging |
Het |
| Frs2 |
G |
T |
10: 116,910,070 (GRCm39) |
H431N |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm19410 |
T |
C |
8: 36,247,621 (GRCm39) |
Y478H |
probably damaging |
Het |
| Gm3629 |
G |
A |
14: 17,834,542 (GRCm39) |
R150C |
|
Het |
| Grik4 |
A |
C |
9: 42,571,168 (GRCm39) |
L179R |
probably damaging |
Het |
| Gsdmc3 |
C |
T |
15: 63,730,941 (GRCm39) |
|
probably null |
Het |
| Il20ra |
T |
A |
10: 19,635,364 (GRCm39) |
M535K |
probably benign |
Het |
| Il9 |
A |
G |
13: 56,628,401 (GRCm39) |
V96A |
possibly damaging |
Het |
| Itgal |
A |
G |
7: 126,910,794 (GRCm39) |
D592G |
probably damaging |
Het |
| Klk1b11 |
C |
T |
7: 43,427,875 (GRCm39) |
|
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,310 (GRCm39) |
W159* |
probably null |
Het |
| Mapk9 |
T |
C |
11: 49,760,000 (GRCm39) |
Y105H |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,697,947 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,286,224 (GRCm39) |
I118T |
probably damaging |
Het |
| N4bp2l2 |
T |
C |
5: 150,566,724 (GRCm39) |
N131D |
unknown |
Het |
| Nbea |
A |
C |
3: 55,862,809 (GRCm39) |
S1814R |
probably benign |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Or1j8 |
T |
C |
2: 36,191,956 (GRCm39) |
V135A |
|
Het |
| Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
| Or8g27 |
G |
A |
9: 39,128,831 (GRCm39) |
M59I |
probably damaging |
Het |
| Pbx3 |
C |
A |
2: 34,114,629 (GRCm39) |
D102Y |
probably damaging |
Het |
| Pdia6 |
G |
A |
12: 17,320,492 (GRCm39) |
V44I |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,528,471 (GRCm39) |
R280H |
probably damaging |
Het |
| Ppm1h |
A |
G |
10: 122,638,264 (GRCm39) |
E178G |
probably benign |
Het |
| Prom1 |
C |
T |
5: 44,172,161 (GRCm39) |
S619N |
probably benign |
Het |
| Prtg |
A |
C |
9: 72,755,607 (GRCm39) |
I270L |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,106 (GRCm39) |
H487L |
probably damaging |
Het |
| Rpl18a |
A |
C |
8: 71,348,788 (GRCm39) |
Y63D |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,560,718 (GRCm39) |
M374L |
probably benign |
Het |
| Scaper |
A |
G |
9: 55,819,400 (GRCm39) |
L105P |
unknown |
Het |
| Slc16a13 |
T |
A |
11: 70,111,530 (GRCm39) |
|
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,313,044 (GRCm39) |
K487R |
probably benign |
Het |
| Slc7a11 |
T |
A |
3: 50,332,082 (GRCm39) |
T459S |
probably benign |
Het |
| Smarcad1 |
A |
G |
6: 65,075,649 (GRCm39) |
Q708R |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
| Syde1 |
T |
C |
10: 78,421,670 (GRCm39) |
H627R |
probably benign |
Het |
| Tas2r113 |
G |
A |
6: 132,870,116 (GRCm39) |
R48H |
probably benign |
Het |
| Tbc1d16 |
T |
C |
11: 119,038,626 (GRCm39) |
Y690C |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,354,610 (GRCm39) |
H1350L |
unknown |
Het |
| Tex15 |
T |
A |
8: 34,060,950 (GRCm39) |
Y127N |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,179 (GRCm39) |
T438A |
possibly damaging |
Het |
| Tubg1 |
A |
G |
11: 101,015,099 (GRCm39) |
D216G |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,026,762 (GRCm39) |
D642G |
possibly damaging |
Het |
| Uqcc1 |
C |
T |
2: 155,743,217 (GRCm39) |
|
probably null |
Het |
| Uvssa |
A |
C |
5: 33,571,404 (GRCm39) |
K683Q |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,166 (GRCm39) |
M198K |
probably benign |
Het |
| Zfp772 |
T |
A |
7: 7,207,190 (GRCm39) |
H167L |
possibly 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 |
|
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 |
|
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'- TCTACTATTCAAGACATGCCATTCC -3'
(R):5'- CGTGCTAATACTTAAGATCCATGAG -3'
Sequencing Primer
(F):5'- AAGACATGCCATTCCTTCTCTAC -3'
(R):5'- CCTAAATGGTGTTGTGAGG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation