Incidental Mutation 'R5470:Brip1'
| ID |
433483 |
| 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 |
043031-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5470 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85948964-86092019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86039368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 389
(K389E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044423]
|
| AlphaFold |
Q5SXJ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044423
AA Change: K389E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: K389E
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
17 |
520 |
1.4e-3 |
SMART |
|
HELICc
|
701 |
854 |
8.2e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.2175 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,215,715 (GRCm39) |
I813F |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,988,056 (GRCm39) |
L169F |
probably damaging |
Het |
| Atp6v1d |
G |
A |
12: 78,892,058 (GRCm39) |
R182C |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,839,833 (GRCm39) |
A44S |
probably benign |
Het |
| C530025M09Rik |
G |
A |
2: 149,673,045 (GRCm39) |
|
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,799,081 (GRCm39) |
S53T |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,450,066 (GRCm39) |
F154L |
probably damaging |
Het |
| Cop1 |
A |
T |
1: 159,094,430 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,501,974 (GRCm39) |
K121R |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,429 (GRCm39) |
M256V |
probably benign |
Het |
| Deup1 |
T |
C |
9: 15,493,916 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,830,232 (GRCm39) |
N709D |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 62,976,109 (GRCm39) |
Y261C |
probably damaging |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| En2 |
C |
T |
5: 28,371,922 (GRCm39) |
T133M |
probably benign |
Het |
| Endou |
A |
G |
15: 97,616,836 (GRCm39) |
F229S |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,534,791 (GRCm39) |
H79L |
probably damaging |
Het |
| Fah |
C |
T |
7: 84,242,393 (GRCm39) |
|
probably null |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fignl1 |
T |
A |
11: 11,752,640 (GRCm39) |
E138D |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,812,008 (GRCm39) |
L311P |
possibly damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,581 (GRCm39) |
V179E |
probably benign |
Het |
| Gm14129 |
G |
T |
2: 148,769,737 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
A |
G |
1: 163,220,078 (GRCm39) |
I188T |
probably damaging |
Het |
| Gpr152 |
G |
A |
19: 4,193,128 (GRCm39) |
C223Y |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,129,008 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
G |
T |
13: 64,221,713 (GRCm39) |
T104N |
probably damaging |
Het |
| Il6ra |
C |
T |
3: 89,793,302 (GRCm39) |
V283M |
probably benign |
Het |
| Klk1b16 |
A |
T |
7: 43,786,755 (GRCm39) |
I5F |
probably damaging |
Het |
| Krt74 |
G |
A |
15: 101,662,900 (GRCm39) |
|
noncoding transcript |
Het |
| Lrch3 |
T |
A |
16: 32,818,960 (GRCm39) |
N650K |
probably damaging |
Het |
| Ly96 |
A |
T |
1: 16,779,710 (GRCm39) |
E126D |
probably benign |
Het |
| Mgarp |
C |
A |
3: 51,298,706 (GRCm39) |
R66L |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,242,147 (GRCm39) |
T586S |
probably damaging |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,643 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,139,450 (GRCm39) |
M3055T |
possibly damaging |
Het |
| Neo1 |
G |
T |
9: 58,838,350 (GRCm39) |
A478D |
probably damaging |
Het |
| Nmrk1 |
A |
T |
19: 18,617,248 (GRCm39) |
|
probably null |
Het |
| Nsl1 |
T |
C |
1: 190,812,737 (GRCm39) |
M184T |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,657,705 (GRCm39) |
N410S |
probably benign |
Het |
| Opalin |
A |
G |
19: 41,054,970 (GRCm39) |
S75P |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,696 (GRCm39) |
I208T |
probably benign |
Het |
| Or3a4 |
A |
G |
11: 73,944,733 (GRCm39) |
I284T |
possibly damaging |
Het |
| Or51ag1 |
T |
G |
7: 103,155,716 (GRCm39) |
I146L |
probably benign |
Het |
| Palb2 |
C |
A |
7: 121,713,574 (GRCm39) |
C903F |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,740,720 (GRCm39) |
W989R |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,856,661 (GRCm39) |
I389N |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,603,306 (GRCm39) |
C119R |
probably benign |
Het |
| Plekha1 |
T |
C |
7: 130,510,106 (GRCm39) |
V45A |
probably damaging |
Het |
| Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,174 (GRCm39) |
D4G |
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,012,634 (GRCm39) |
T299S |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,138,880 (GRCm39) |
H527Q |
probably benign |
Het |
| Slc22a8 |
G |
A |
19: 8,585,234 (GRCm39) |
R261H |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,115,907 (GRCm39) |
F681S |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,188,527 (GRCm39) |
H860Q |
probably benign |
Het |
| Strn |
A |
T |
17: 78,964,374 (GRCm39) |
H530Q |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,442,430 (GRCm39) |
R179G |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,115,381 (GRCm39) |
D350G |
probably benign |
Het |
| Tnrc6b |
G |
T |
15: 80,800,912 (GRCm39) |
R1406L |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,935,947 (GRCm39) |
D2666G |
probably null |
Het |
| Ttn |
A |
T |
2: 76,560,208 (GRCm39) |
Y27652N |
probably benign |
Het |
| Utp20 |
T |
A |
10: 88,653,758 (GRCm39) |
E287D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,698 (GRCm39) |
I91V |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,046,981 (GRCm39) |
K76* |
probably null |
Het |
| Zfp689 |
C |
T |
7: 127,043,425 (GRCm39) |
A402T |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,060,532 (GRCm39) |
E207G |
probably damaging |
Het |
| Zhx2 |
G |
T |
15: 57,686,470 (GRCm39) |
R613L |
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 |
|
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'- TATAGCACACATCTCGTAGGGGC -3'
(R):5'- CATTGGTGCCTTGATCCAAAG -3'
Sequencing Primer
(F):5'- ACATCTCGTAGGGGCTCGTG -3'
(R):5'- CACATTTTCATTGAGAGATTGGCTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation