Mutagenetix > Incidental Mutations

Incidental Mutation 'R0524:Bnipl'

48768

Institutional Source

Beutler Lab

Gene Symbol

Bnipl

Ensembl Gene

ENSMUSG00000028115

Gene Name

BCL2/adenovirus E1B 19kD interacting protein like

Synonyms

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

MMRRC Submission

038717-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0524 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95241271-95251193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95249829 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 33 (D33G)

Ref Sequence

ENSEMBL: ENSMUSP00000115197 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000098871
AA Change: D29G

SMART Domains

Protein: ENSMUSP00000096468
Gene: ENSMUSG00000028115
AA Change: D29G

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
AA Change: D61G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102813
Gene: ENSMUSG00000028115
AA Change: D61G

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

unknown
Transcript: ENSMUST00000125515
AA Change: D29G

SMART Domains

Protein: ENSMUSP00000120545
Gene: ENSMUSG00000028115
AA Change: D29G

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
AA Change: D33G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115197
Gene: ENSMUSG00000028115
AA Change: D33G

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

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adamts16	T	C	13: 70,800,894	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511	P715T	probably damaging	Het
Celsr2	T	C	3: 108,401,587	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048	I431K	probably damaging	Het
Fam135b	A	T	15: 71,462,284	D1020E	probably benign	Het
Flii	A	G	11: 60,720,061	V514A	probably damaging	Het
Frmpd1	G	A	4: 45,256,902	V157M	probably damaging	Het
Frmpd1	A	G	4: 45,283,774	D865G	probably benign	Het
Gm6970	T	A	19: 47,170,494	K214M	unknown	Het
Gsr	G	A	8: 33,669,180		probably null	Het
Hps3	A	T	3: 20,012,776	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,873,552	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,013,424	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,283,618	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,172,770	R142*	probably null	Het
Pygl	T	A	12: 70,207,724	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942	I878T	probably damaging	Het
Tmem232	A	G	17: 65,485,942	S87P	probably damaging	Het
Tmem260	A	G	14: 48,472,478	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651		probably null	Het
Vmn1r72	A	G	7: 11,669,792	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364	D119G	unknown	Het
Zfp719	A	G	7: 43,589,253		probably null	Het

Other mutations in Bnipl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Bnipl	APN	3	95242734	missense	probably damaging	1.00
IGL02089:Bnipl	APN	3	95250266	splice site	probably benign
IGL02273:Bnipl	APN	3	95245775	missense	possibly damaging	0.58
IGL03250:Bnipl	APN	3	95244139	splice site	probably benign
R1181:Bnipl	UTSW	3	95245649	critical splice donor site	probably null
R1926:Bnipl	UTSW	3	95243043	missense	probably damaging	1.00
R2072:Bnipl	UTSW	3	95244211	missense	probably damaging	1.00
R2126:Bnipl	UTSW	3	95245683	missense	probably damaging	1.00
R2196:Bnipl	UTSW	3	95249870	missense	possibly damaging	0.83
R2898:Bnipl	UTSW	3	95243049	missense	probably benign	0.44
R7781:Bnipl	UTSW	3	95244175	missense	probably damaging	1.00
R7885:Bnipl	UTSW	3	95250240	missense	probably benign
R7968:Bnipl	UTSW	3	95250240	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGTGCATTTTGAGAAAGGGATGTAAC -3'
(R):5'- AGCAACCATGAAACTTGGAGAGCTG -3'

Sequencing Primer
(F):5'- CAACAGTGCCAGAAGTCAAC -3'
(R):5'- cctctctgtcatcctttgctc -3'

Posted On

2013-06-12