Mutagenetix > Incidental Mutation

Incidental Mutation 'R3001:Bnip3'

257324

Institutional Source

Beutler Lab

Gene Symbol

Bnip3

Ensembl Gene

ENSMUSG00000078566

Gene Name

BCL2/adenovirus E1B interacting protein 3

Synonyms

Nip3

MMRRC Submission

040530-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.542) question?

Stock #

R3001 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138492565-138511235 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138496430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 93 (I93V)

Ref Sequence

ENSEMBL: ENSMUSP00000148170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106112] [ENSMUST00000130500]

AlphaFold

O55003

Predicted Effect

probably benign
Transcript: ENSMUST00000106112
AA Change: I93V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101718
Gene: ENSMUSG00000078566
AA Change: I93V

Domain	Start	End	E-Value	Type
Pfam:BNIP3	1	186	7.9e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125359

Predicted Effect

probably benign
Transcript: ENSMUST00000130500
AA Change: I93V

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210611

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased post-ischemic ventricular remodeling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt71	C	T	15: 101,648,906 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sacm1l	T	C	9: 123,414,149 (GRCm39)		probably benign	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Xpo7	A	G	14: 70,930,085 (GRCm39)		probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably damaging	Het

Other mutations in Bnip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Bnip3	APN	7	138,499,801 (GRCm39)	missense	probably damaging	1.00
IGL01363:Bnip3	APN	7	138,499,777 (GRCm39)	missense	probably benign	0.00
IGL02410:Bnip3	APN	7	138,500,528 (GRCm39)	missense	probably damaging	1.00
IGL03097:Bnip3	UTSW	7	138,496,208 (GRCm39)	missense	probably damaging	0.97
R0012:Bnip3	UTSW	7	138,500,401 (GRCm39)	splice site	probably benign
R0012:Bnip3	UTSW	7	138,500,401 (GRCm39)	splice site	probably benign
R0282:Bnip3	UTSW	7	138,499,759 (GRCm39)	missense	probably damaging	0.97
R1929:Bnip3	UTSW	7	138,496,359 (GRCm39)	synonymous	silent
R3002:Bnip3	UTSW	7	138,496,430 (GRCm39)	missense	probably benign	0.37
R4727:Bnip3	UTSW	7	138,500,435 (GRCm39)	missense	probably damaging	1.00
R5029:Bnip3	UTSW	7	138,499,848 (GRCm39)	intron	probably benign
R5088:Bnip3	UTSW	7	138,496,337 (GRCm39)	critical splice donor site	probably null
R6046:Bnip3	UTSW	7	138,511,033 (GRCm39)	intron	probably benign
R8035:Bnip3	UTSW	7	138,493,666 (GRCm39)	missense	probably damaging	1.00
R9682:Bnip3	UTSW	7	138,496,445 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGAGAGTAGCTGTGCG -3'
(R):5'- AGAATATCTCTGAGGGGACATTACC -3'

Sequencing Primer
(F):5'- CTTCGGGTGTTTAAAAAGGAACTCC -3'
(R):5'- TCTGAGGGGACATTACCACCTAAATG -3'

Posted On

2015-01-11