Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02983:Brip1'

406634

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, 3110009N10Rik, BACH1

Accession Numbers

Ncbi RefSeq: NM_178309.2; MGI:2442836

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

86058138-86201193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86139124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 565 (I565V)

Ref Sequence

ENSEMBL: ENSMUSP00000043108 (fasta)

Gene Model

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

AlphaFold

Q5SXJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000044423
AA Change: I565V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000043108
Gene: ENSMUSG00000034329
AA Change: I565V

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	G	19: 5,503,181	F191L	possibly damaging	Het
Abca13	A	G	11: 9,290,663	N842S	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Camta2	C	T	11: 70,672,022	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,713,379	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,729,169	K132R	probably benign	Het
Clcnka	T	A	4: 141,390,131	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,967,567		probably null	Het
Crat	A	C	2: 30,404,526		probably null	Het
Cspp1	A	G	1: 10,127,525	K227R	probably benign	Het
Ddx1	A	T	12: 13,223,862	I588N	probably damaging	Het
Dip2b	G	T	15: 100,132,022	R98L	possibly damaging	Het
Dock5	G	A	14: 67,764,670	P1617L	probably damaging	Het
Fa2h	C	T	8: 111,346,522		probably null	Het
Fezf1	T	A	6: 23,247,872	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,421,400	L17F	probably benign	Het
Gm17078	T	C	14: 51,611,190	K30R	probably benign	Het
Gramd4	G	A	15: 86,127,018	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,555	D86A	probably damaging	Het
Lrp1	T	C	10: 127,550,199	E3486G	probably damaging	Het
Ltb	A	G	17: 35,194,670	D50G	probably benign	Het
Med18	A	T	4: 132,459,686	Y167*	probably null	Het
Nat14	G	A	7: 4,924,128	A100T	probably damaging	Het
Nxph2	T	C	2: 23,400,362	V242A	probably damaging	Het
Olfr338	T	A	2: 36,377,637	I287N	probably damaging	Het
Olfr443-ps1	T	C	6: 43,094,648		noncoding transcript	Het
Olfr54	T	C	11: 51,027,380	V126A	probably damaging	Het
Olfr818	T	A	10: 129,945,189	N291I	probably damaging	Het
Pramef20	T	C	4: 144,373,127	E356G	probably benign	Het
Rad21l	A	G	2: 151,655,120	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,957,049	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,703,694	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Szt2	T	C	4: 118,365,779		probably benign	Het
Taf6	T	C	5: 138,178,880	T642A	probably benign	Het
Tmem30a	A	T	9: 79,771,443	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 13,102,814	D45G	probably damaging	Het
Xkr5	T	C	8: 18,933,832	I565V	probably benign	Het
Zfp526	C	T	7: 25,224,415	A33V	probably benign	Het

Other mutations in Brip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Brip1	APN	11	86148401	missense	possibly damaging	0.53
IGL01098:Brip1	APN	11	86108862	missense	possibly damaging	0.71
IGL01503:Brip1	APN	11	86061877	missense	probably benign	0.33
IGL01602:Brip1	APN	11	86062004	missense	possibly damaging	0.53
IGL01605:Brip1	APN	11	86062004	missense	possibly damaging	0.53
IGL01940:Brip1	APN	11	86064966	missense	probably benign	0.00
IGL02019:Brip1	APN	11	86197949	missense	possibly damaging	0.73
IGL02212:Brip1	APN	11	86139015	missense	possibly damaging	0.86
IGL02456:Brip1	APN	11	86065099	missense	possibly damaging	0.71
IGL02727:Brip1	APN	11	86152736	missense	probably benign	0.02
IGL03022:Brip1	APN	11	86077950	missense	probably damaging	0.98
IGL03116:Brip1	APN	11	86064909	nonsense	probably null
IGL03143:Brip1	APN	11	86061827	missense	possibly damaging	0.53
blip	UTSW	11	86074298	missense	possibly damaging	0.85
radar	UTSW	11	86152669	nonsense	probably null
P0018:Brip1	UTSW	11	86108868	missense	possibly damaging	0.51
R0011:Brip1	UTSW	11	86186998	missense	possibly damaging	0.72
R0011:Brip1	UTSW	11	86186998	missense	possibly damaging	0.72
R0446:Brip1	UTSW	11	86157601	missense	probably damaging	0.98
R0498:Brip1	UTSW	11	86197919	missense	possibly damaging	0.96
R0599:Brip1	UTSW	11	86152737	missense	probably benign
R0653:Brip1	UTSW	11	86152658	missense	possibly damaging	0.85
R0661:Brip1	UTSW	11	86110363	missense	possibly damaging	0.86
R0671:Brip1	UTSW	11	86152667	missense	possibly damaging	0.93
R0718:Brip1	UTSW	11	86143305	missense	possibly damaging	0.96
R0750:Brip1	UTSW	11	86061499	missense	possibly damaging	0.53
R0834:Brip1	UTSW	11	86192827	missense	probably benign
R1128:Brip1	UTSW	11	86064937	missense	possibly damaging	0.86
R1726:Brip1	UTSW	11	86064914	missense	probably benign	0.17
R1813:Brip1	UTSW	11	86187080	missense	possibly damaging	0.53
R1885:Brip1	UTSW	11	86138815	missense	probably damaging	1.00
R1886:Brip1	UTSW	11	86138815	missense	probably damaging	1.00
R2093:Brip1	UTSW	11	86139145	missense	possibly damaging	0.53
R2206:Brip1	UTSW	11	86061877	missense	probably benign	0.33
R2207:Brip1	UTSW	11	86061877	missense	probably benign	0.33
R3404:Brip1	UTSW	11	86143263	missense	possibly damaging	0.96
R3421:Brip1	UTSW	11	86152669	nonsense	probably null
R3876:Brip1	UTSW	11	86152790	missense	probably damaging	0.98
R4018:Brip1	UTSW	11	86138851	missense	possibly damaging	0.86
R4092:Brip1	UTSW	11	86148521	missense	possibly damaging	0.92
R4384:Brip1	UTSW	11	86148429	missense	possibly damaging	0.70
R4394:Brip1	UTSW	11	86074298	missense	possibly damaging	0.85
R4518:Brip1	UTSW	11	86077878	missense	possibly damaging	0.92
R4522:Brip1	UTSW	11	86189801	missense	possibly damaging	0.49
R4840:Brip1	UTSW	11	86146183	missense	possibly damaging	0.86
R5025:Brip1	UTSW	11	86064980	missense	probably benign	0.04
R5176:Brip1	UTSW	11	86077884	missense	probably damaging	0.98
R5213:Brip1	UTSW	11	86143321	missense	possibly damaging	0.73
R5470:Brip1	UTSW	11	86148542	missense	possibly damaging	0.71
R5525:Brip1	UTSW	11	86110447	missense	possibly damaging	0.85
R6057:Brip1	UTSW	11	86065039	missense	possibly damaging	0.73
R6819:Brip1	UTSW	11	86110441	missense	possibly damaging	0.51
R6908:Brip1	UTSW	11	86077884	missense	probably damaging	0.98
R6920:Brip1	UTSW	11	86148536	nonsense	probably null
R7053:Brip1	UTSW	11	86192965	missense	possibly damaging	0.53
R7235:Brip1	UTSW	11	86138875	missense	possibly damaging	0.53
R7253:Brip1	UTSW	11	86143278	missense	possibly damaging	0.96
R7347:Brip1	UTSW	11	86139103	missense	probably benign	0.34
R7476:Brip1	UTSW	11	86157808	missense	probably benign	0.33
R7580:Brip1	UTSW	11	86157601	missense	probably damaging	0.98
R7639:Brip1	UTSW	11	86152822	splice site	probably null
R7771:Brip1	UTSW	11	86062024	missense	probably benign	0.02
R8125:Brip1	UTSW	11	86186991	missense	possibly damaging	0.73
R8236:Brip1	UTSW	11	86139112	missense	probably damaging	0.98
R8509:Brip1	UTSW	11	86197948	nonsense	probably null
R8815:Brip1	UTSW	11	86189772	missense	probably benign	0.17
R8877:Brip1	UTSW	11	86152706	missense	possibly damaging	0.93
R8938:Brip1	UTSW	11	86148401	missense	possibly damaging	0.53
R9038:Brip1	UTSW	11	86189773	missense	probably benign	0.01
R9104:Brip1	UTSW	11	86187071	missense	possibly damaging	0.86
X0060:Brip1	UTSW	11	86152619	missense	possibly damaging	0.71
X0062:Brip1	UTSW	11	86143356	missense	possibly damaging	0.53

Posted On

2016-08-02