Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Bri3bp'

186061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bri3bp

Ensembl Gene

ENSMUSG00000037905

Gene Name

Bri3 binding protein

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

125441568-125460370 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125454689 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000037609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049040]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049040
AA Change: V233A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037609
Gene: ENSMUSG00000037905
AA Change: V233A

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
Pfam:BRI3BP	55	241	1e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198811

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Bri3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Bri3bp	APN	5	125454517	missense	probably damaging	0.99
IGL02081:Bri3bp	APN	5	125441897	splice site	probably null
R0539:Bri3bp	UTSW	5	125454539	missense	probably damaging	1.00
R0883:Bri3bp	UTSW	5	125441744	splice site	probably null
R2129:Bri3bp	UTSW	5	125451671	nonsense	probably null
R4703:Bri3bp	UTSW	5	125451766	missense	probably damaging	1.00
R4989:Bri3bp	UTSW	5	125441696	unclassified	probably benign
R5947:Bri3bp	UTSW	5	125452153	nonsense	probably null
R5947:Bri3bp	UTSW	5	125452154	intron	probably benign
R6369:Bri3bp	UTSW	5	125454701	missense	probably damaging	0.99
R7235:Bri3bp	UTSW	5	125441684	missense	unknown
R7937:Bri3bp	UTSW	5	125454331	missense	probably damaging	1.00

Posted On

2014-05-07