Mutagenetix > Incidental Mutation

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

2410150I18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

125518632-125537434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125531753 bp (GRCm39)

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]

AlphaFold

Q8BXV2

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
Abl1	T	C	2: 31,579,960 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,410,877 (GRCm39)	M204K	probably damaging	Het
Alms1	T	C	6: 85,605,616 (GRCm39)	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,462,868 (GRCm39)		probably null	Het
Arsa	T	C	15: 89,357,554 (GRCm39)	T470A	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Elapor1	T	A	3: 108,388,675 (GRCm39)	N236I	possibly damaging	Het
Ephb6	T	A	6: 41,592,948 (GRCm39)	D395E	possibly damaging	Het
Flt1	T	A	5: 147,505,641 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,323,089 (GRCm39)	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 79,888,768 (GRCm39)	D266E	probably benign	Het
Gspt1	A	G	16: 11,058,693 (GRCm39)	S123P	probably benign	Het
Kctd17	T	C	15: 78,314,356 (GRCm39)		probably benign	Het
Lamb2	T	A	9: 108,359,312 (GRCm39)	C313S	probably damaging	Het
Lcor	T	A	19: 41,544,126 (GRCm39)	S106R	probably benign	Het
Lgr5	A	C	10: 115,288,099 (GRCm39)	S776R	probably damaging	Het
Mettl16	T	G	11: 74,708,450 (GRCm39)	C510G	probably damaging	Het
Mlip	T	C	9: 77,146,811 (GRCm39)	T101A	possibly damaging	Het
Myh6	A	T	14: 55,187,998 (GRCm39)	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,681,001 (GRCm39)	R87H	possibly damaging	Het
Npepl1	C	T	2: 173,961,183 (GRCm39)		probably benign	Het
Nrxn1	A	T	17: 90,950,511 (GRCm39)	M548K	probably damaging	Het
Or10a48	T	A	7: 108,425,143 (GRCm39)	E21V	probably damaging	Het
Or4c11c	T	A	2: 88,661,991 (GRCm39)	C177S	probably damaging	Het
Pate3	T	A	9: 35,557,449 (GRCm39)	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,819,067 (GRCm39)	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,792,706 (GRCm39)	I211N	probably benign	Het
Plekhg3	T	A	12: 76,607,203 (GRCm39)	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,566,540 (GRCm39)	C58Y	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668 (GRCm39)	S1258G	probably benign	Het
Scn1a	T	C	2: 66,153,704 (GRCm39)	R710G	probably benign	Het
Wwc1	A	G	11: 35,766,885 (GRCm39)	S457P	probably damaging	Het
Xdh	C	T	17: 74,198,272 (GRCm39)	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	C	7: 80,688,978 (GRCm39)	S1080P	probably benign	Het

Other mutations in Bri3bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Bri3bp	APN	5	125,531,581 (GRCm39)	missense	probably damaging	0.99
IGL02081:Bri3bp	APN	5	125,518,961 (GRCm39)	splice site	probably null
R0539:Bri3bp	UTSW	5	125,531,603 (GRCm39)	missense	probably damaging	1.00
R0883:Bri3bp	UTSW	5	125,518,808 (GRCm39)	splice site	probably null
R2129:Bri3bp	UTSW	5	125,528,735 (GRCm39)	nonsense	probably null
R4703:Bri3bp	UTSW	5	125,528,830 (GRCm39)	missense	probably damaging	1.00
R4989:Bri3bp	UTSW	5	125,518,760 (GRCm39)	unclassified	probably benign
R5947:Bri3bp	UTSW	5	125,529,218 (GRCm39)	intron	probably benign
R5947:Bri3bp	UTSW	5	125,529,217 (GRCm39)	nonsense	probably null
R6369:Bri3bp	UTSW	5	125,531,765 (GRCm39)	missense	probably damaging	0.99
R7235:Bri3bp	UTSW	5	125,518,748 (GRCm39)	missense	unknown
R7937:Bri3bp	UTSW	5	125,531,395 (GRCm39)	missense	probably damaging	1.00
R9612:Bri3bp	UTSW	5	125,531,390 (GRCm39)	missense	probably damaging	0.96
R9626:Bri3bp	UTSW	5	125,531,572 (GRCm39)	missense	probably damaging	0.99
R9734:Bri3bp	UTSW	5	125,518,736 (GRCm39)	missense	unknown

Posted On

2014-05-07