Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Bnipl'

279388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bnipl

Ensembl Gene

ENSMUSG00000028115

Gene Name

BCL2/adenovirus E1B 19kD interacting protein like

Synonyms

BNIPL-1, BNIPL2, BNIPL1, BNIP-S, BNIPL, BNIPL-2, PP753, 1700128A13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

95148587-95158504 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 95157577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015855] [ENSMUST00000098871] [ENSMUST00000107195] [ENSMUST00000125515] [ENSMUST00000137250]

AlphaFold

Q99JU7

Predicted Effect

probably benign
Transcript: ENSMUST00000015855

SMART Domains

Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711

Domain	Start	End	E-Value	Type
Pfam:DHH	19	181	2.5e-10	PFAM
DHHA2	215	359	1.88e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098871

SMART Domains

Protein: ENSMUSP00000096468
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
Pfam:BNIP2	48	178	4.5e-38	PFAM
Pfam:CRAL_TRIO_2	162	273	7.7e-16	PFAM
Pfam:CRAL_TRIO	196	263	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107195

SMART Domains

Protein: ENSMUSP00000102813
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	50	62	N/A	INTRINSIC
low complexity region	104	117	N/A	INTRINSIC
SEC14	193	348	7.89e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125515

SMART Domains

Protein: ENSMUSP00000120545
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
Pfam:BNIP2	48	178	3.7e-38	PFAM
Pfam:CRAL_TRIO_2	168	259	7.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137250

SMART Domains

Protein: ENSMUSP00000115197
Gene: ENSMUSG00000028115

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC
SEC14	165	320	7.89e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176070

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 68,951,013 (GRCm39)		silent	Het
Adck1	G	T	12: 88,413,480 (GRCm39)	V271F	probably damaging	Het
Aggf1	T	C	13: 95,507,437 (GRCm39)	D116G	probably benign	Het
Anapc1	A	T	2: 128,505,853 (GRCm39)	V661E	probably damaging	Het
Apoa5	T	C	9: 46,180,437 (GRCm39)		probably null	Het
Atp8a2	C	T	14: 60,264,369 (GRCm39)		probably null	Het
Cbs	T	G	17: 31,834,519 (GRCm39)	D490A	probably benign	Het
Chrdl1	G	T	X: 142,086,510 (GRCm39)	H199N	possibly damaging	Het
Dcaf1	C	T	9: 106,740,310 (GRCm39)	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,735,477 (GRCm39)		probably benign	Het
Ephb4	A	G	5: 137,369,024 (GRCm39)	K805E	probably damaging	Het
Ergic3	A	G	2: 155,852,395 (GRCm39)	N135D	probably benign	Het
Fbxw18	C	T	9: 109,530,390 (GRCm39)	V74I	probably benign	Het
Fmo4	G	T	1: 162,626,649 (GRCm39)	T299N	probably benign	Het
Gmeb1	T	C	4: 131,953,147 (GRCm39)	K540E	probably damaging	Het
H60c	T	A	10: 3,209,826 (GRCm39)	S154C	possibly damaging	Het
Herc1	T	C	9: 66,388,151 (GRCm39)	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,261,724 (GRCm39)	D937G	probably damaging	Het
Ift122	A	G	6: 115,902,398 (GRCm39)	D1079G	probably benign	Het
Il6st	T	C	13: 112,631,774 (GRCm39)	W438R	probably benign	Het
Lypla2	C	T	4: 135,696,932 (GRCm39)	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,216,220 (GRCm39)	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,654,213 (GRCm39)	G397D	probably damaging	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,416,987 (GRCm39)	V3311G	probably benign	Het
Naca	A	G	10: 127,872,358 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 91,395,829 (GRCm39)	V109A	probably benign	Het
Nup210	T	G	6: 91,053,680 (GRCm39)	D279A	probably benign	Het
Or10g6	A	T	9: 39,934,066 (GRCm39)	I126F	probably damaging	Het
Or8h7	A	G	2: 86,721,460 (GRCm39)	S20P	possibly damaging	Het
Pappa	T	A	4: 65,074,361 (GRCm39)	V305E	possibly damaging	Het
Pcdh19	A	T	X: 132,489,245 (GRCm39)	M977K	probably benign	Het
Pdzph1	T	A	17: 59,274,334 (GRCm39)	I837F	possibly damaging	Het
Phip	A	T	9: 82,753,372 (GRCm39)	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,700,489 (GRCm39)	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,447 (GRCm39)	V1063M	probably damaging	Het
Qprt	A	T	7: 126,707,528 (GRCm39)	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,937,475 (GRCm39)	K391E	possibly damaging	Het
Rbbp7	C	A	X: 161,554,052 (GRCm39)	P162Q	probably benign	Het
Rev3l	A	T	10: 39,701,095 (GRCm39)	N1864I	probably damaging	Het
Rims1	A	G	1: 22,669,556 (GRCm39)	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,400,240 (GRCm39)	K107I	probably benign	Het
Sbf1	C	A	15: 89,186,708 (GRCm39)	E864*	probably null	Het
Strip2	G	A	6: 29,917,179 (GRCm39)		probably benign	Het
Stx4a	T	C	7: 127,447,570 (GRCm39)	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,104,412 (GRCm39)	V577I	possibly damaging	Het
Tex38	T	C	4: 115,637,591 (GRCm39)	T71A	possibly damaging	Het
Usp38	T	C	8: 81,712,343 (GRCm39)	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Wwp2	T	A	8: 108,280,689 (GRCm39)	L644Q	probably damaging	Het
Zfp267	T	C	3: 36,218,877 (GRCm39)	F300S	possibly damaging	Het
Zpld1	A	G	16: 55,071,974 (GRCm39)	I95T	probably benign	Het

Other mutations in Bnipl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Bnipl	APN	3	95,150,045 (GRCm39)	missense	probably damaging	1.00
IGL02273:Bnipl	APN	3	95,153,086 (GRCm39)	missense	possibly damaging	0.58
IGL03250:Bnipl	APN	3	95,151,450 (GRCm39)	splice site	probably benign
R0524:Bnipl	UTSW	3	95,157,140 (GRCm39)	missense	probably benign	0.27
R1181:Bnipl	UTSW	3	95,152,960 (GRCm39)	critical splice donor site	probably null
R1926:Bnipl	UTSW	3	95,150,354 (GRCm39)	missense	probably damaging	1.00
R2072:Bnipl	UTSW	3	95,151,522 (GRCm39)	missense	probably damaging	1.00
R2126:Bnipl	UTSW	3	95,152,994 (GRCm39)	missense	probably damaging	1.00
R2196:Bnipl	UTSW	3	95,157,181 (GRCm39)	missense	possibly damaging	0.83
R2898:Bnipl	UTSW	3	95,150,360 (GRCm39)	missense	probably benign	0.44
R7781:Bnipl	UTSW	3	95,151,486 (GRCm39)	missense	probably damaging	1.00
R7885:Bnipl	UTSW	3	95,157,551 (GRCm39)	missense	probably benign
R9088:Bnipl	UTSW	3	95,158,295 (GRCm39)	nonsense	probably null
R9512:Bnipl	UTSW	3	95,150,369 (GRCm39)	missense	probably benign	0.36
R9789:Bnipl	UTSW	3	95,153,140 (GRCm39)	missense	possibly damaging	0.72

Posted On

2015-04-16