Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Bnip5'

321633

Institutional Source

Beutler Lab

Gene Symbol

Bnip5

Ensembl Gene

ENSMUSG00000048905

Gene Name

BCL2 interacting protein 5

Synonyms

4930539E08Rik

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29115366-29134298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29118503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 643 (Y643C)

Ref Sequence

ENSEMBL: ENSMUSP00000050646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062357]

AlphaFold

Q8CC96

Predicted Effect

probably benign
Transcript: ENSMUST00000062357
AA Change: Y643C

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050646
Gene: ENSMUSG00000048905
AA Change: Y643C

Domain	Start	End	E-Value	Type
Pfam:CF222	31	669	1.6e-289	PFAM

Meta Mutation Damage Score

0.4844

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	Het

Other mutations in Bnip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03040:Bnip5	APN	17	29,134,176 (GRCm39)	missense	probably benign	0.01
R4667:Bnip5	UTSW	17	29,127,287 (GRCm39)	missense	possibly damaging	0.94
R4918:Bnip5	UTSW	17	29,127,337 (GRCm39)	missense	probably benign	0.08
R4942:Bnip5	UTSW	17	29,122,232 (GRCm39)	missense	probably benign
R5950:Bnip5	UTSW	17	29,124,729 (GRCm39)	missense	possibly damaging	0.84
R6073:Bnip5	UTSW	17	29,123,597 (GRCm39)	missense	probably damaging	0.99
R6556:Bnip5	UTSW	17	29,123,585 (GRCm39)	missense	probably damaging	0.99
R7392:Bnip5	UTSW	17	29,127,351 (GRCm39)	missense	probably benign	0.01
R7404:Bnip5	UTSW	17	29,124,298 (GRCm39)	missense	probably damaging	1.00
R7405:Bnip5	UTSW	17	29,124,298 (GRCm39)	missense	probably damaging	1.00
R7473:Bnip5	UTSW	17	29,124,298 (GRCm39)	missense	probably damaging	1.00
R7541:Bnip5	UTSW	17	29,124,298 (GRCm39)	missense	probably damaging	1.00
R7544:Bnip5	UTSW	17	29,124,298 (GRCm39)	missense	probably damaging	1.00
R7562:Bnip5	UTSW	17	29,128,778 (GRCm39)	missense	probably benign	0.02
R7588:Bnip5	UTSW	17	29,124,430 (GRCm39)	missense	probably benign	0.09
R8293:Bnip5	UTSW	17	29,121,864 (GRCm39)	missense	probably benign	0.05
R8355:Bnip5	UTSW	17	29,122,249 (GRCm39)	missense	probably damaging	1.00
R8432:Bnip5	UTSW	17	29,118,545 (GRCm39)	missense	probably benign
R9161:Bnip5	UTSW	17	29,128,387 (GRCm39)	missense	probably damaging	0.96
R9237:Bnip5	UTSW	17	29,123,522 (GRCm39)	missense	probably benign	0.07
R9549:Bnip5	UTSW	17	29,124,647 (GRCm39)	missense
R9577:Bnip5	UTSW	17	29,128,382 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGATGGCATTTGAACTGAAGCC -3'
(R):5'- AACGAGTTCTCGGATGCCTC -3'

Sequencing Primer
(F):5'- GTAAGACTGGCAAGCTGACTTCC -3'
(R):5'- TCCCTCAGGAAGCTGGTG -3'

Posted On

2015-06-12