Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02727:Brip1'

305272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brip1

Ensembl Gene

ENSMUSG00000034329

Gene Name

BRCA1 interacting protein C-terminal helicase 1

Synonyms

8030460J03Rik, BACH1, 3110009N10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02727

Quality Score

Status

Chromosome

Chromosomal Location

85948964-86092019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86043562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 334 (M334K)

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044423]

AlphaFold

Q5SXJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000044423
AA Change: M334K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: M334K

Domain	Start	End	E-Value	Type
DEXDc	17	520	1.4e-3	SMART
HELICc	701	854	8.2e-41	SMART

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,226,724 (GRCm39)	T13A	probably benign	Het
Aldh1l2	T	A	10: 83,342,469 (GRCm39)	K447I	probably damaging	Het
Ankrd17	A	G	5: 90,392,151 (GRCm39)	S1840P	possibly damaging	Het
Ash1l	A	G	3: 88,930,344 (GRCm39)	I1940M	probably benign	Het
Bfar	T	G	16: 13,506,791 (GRCm39)		probably null	Het
Bicra	G	T	7: 15,713,390 (GRCm39)	H937Q	possibly damaging	Het
Camsap2	T	G	1: 136,232,050 (GRCm39)	M182L	probably benign	Het
Chd6	A	T	2: 160,811,383 (GRCm39)	C1407S	probably damaging	Het
Cmya5	A	G	13: 93,234,753 (GRCm39)	S112P	possibly damaging	Het
Csmd1	A	T	8: 16,281,341 (GRCm39)	V728E	probably damaging	Het
Cyp2j6	T	A	4: 96,434,001 (GRCm39)	Q103L	probably benign	Het
Ddias	A	T	7: 92,515,830 (GRCm39)	I21K	probably damaging	Het
Derl2	A	C	11: 70,904,036 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,558,317 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,938,474 (GRCm39)	D15G	probably damaging	Het
Enpp2	T	C	15: 54,773,577 (GRCm39)	D110G	probably damaging	Het
Fkbp11	A	T	15: 98,622,471 (GRCm39)	V134E	probably damaging	Het
Gm3248	T	C	14: 5,945,036 (GRCm38)	T49A	probably damaging	Het
Gm57858	T	A	3: 36,087,065 (GRCm39)	R176S	possibly damaging	Het
Irag2	T	C	6: 145,120,344 (GRCm39)	S520P	possibly damaging	Het
Luzp2	T	C	7: 54,821,939 (GRCm39)		probably benign	Het
Manea	C	A	4: 26,328,127 (GRCm39)	E305*	probably null	Het
Manea	T	A	4: 26,328,126 (GRCm39)	E305V	probably damaging	Het
Megf6	A	G	4: 154,337,606 (GRCm39)		probably null	Het
Mrpl3	G	T	9: 104,931,726 (GRCm39)	D59Y	probably damaging	Het
Myh9	T	C	15: 77,675,942 (GRCm39)	Y248C	probably benign	Het
Nbeal2	G	A	9: 110,468,353 (GRCm39)		probably benign	Het
Or10a5	G	T	7: 106,635,902 (GRCm39)	C180F	probably damaging	Het
Or1f19	T	A	16: 3,411,190 (GRCm39)	I310K	probably benign	Het
Or2y1c	G	T	11: 49,361,893 (GRCm39)	G305V	probably benign	Het
Or8b40	A	G	9: 38,027,808 (GRCm39)	T239A	probably damaging	Het
Pax8	C	A	2: 24,331,642 (GRCm39)	C147F	probably damaging	Het
Phf12	T	C	11: 77,914,493 (GRCm39)	V96A	possibly damaging	Het
Psg18	A	T	7: 18,079,875 (GRCm39)	I442K	probably damaging	Het
Pygl	T	A	12: 70,254,442 (GRCm39)		probably null	Het
Rassf2	C	A	2: 131,846,307 (GRCm39)	R150L	probably benign	Het
Rdh7	A	T	10: 127,723,487 (GRCm39)	W123R	probably damaging	Het
Saal1	T	C	7: 46,339,223 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,383 (GRCm39)	D907G	probably damaging	Het
Spag1	T	A	15: 36,234,964 (GRCm39)	F876I	probably damaging	Het
Syncrip	G	A	9: 88,361,932 (GRCm39)	A61V	probably damaging	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Vmn1r178	A	G	7: 23,593,871 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,229,995 (GRCm39)	D39G	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
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
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

Posted On

2015-04-16