Mutagenetix > Incidental Mutation

Incidental Mutation 'R9088:Bnipl'

690742

Institutional Source

Beutler Lab

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 #

R9088 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95148587-95158504 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 95158295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 9 (R9*)

Ref Sequence

ENSEMBL: ENSMUSP00000102813 (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 null
Transcript: ENSMUST00000098871
AA Change: R9*

SMART Domains

Protein: ENSMUSP00000096468
Gene: ENSMUSG00000028115
AA Change: R9*

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 null
Transcript: ENSMUST00000107195
AA Change: R9*

SMART Domains

Protein: ENSMUSP00000102813
Gene: ENSMUSG00000028115
AA Change: R9*

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 null
Transcript: ENSMUST00000125515
AA Change: R9*

SMART Domains

Protein: ENSMUSP00000120545
Gene: ENSMUSG00000028115
AA Change: R9*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,282,870 (GRCm39)	Y1212C		Het
Asah2	T	C	19: 32,030,360 (GRCm39)	Q104R	probably damaging	Het
Bpifa3	A	C	2: 153,975,685 (GRCm39)	N85T	possibly damaging	Het
C6	T	C	15: 4,792,956 (GRCm39)	Y354H	probably damaging	Het
Caln1	A	T	5: 130,443,617 (GRCm39)		probably benign	Het
Capn3	T	C	2: 120,321,451 (GRCm39)	F378L	probably benign	Het
Car6	T	C	4: 150,281,806 (GRCm39)	H125R	probably damaging	Het
Ccdc110	G	A	8: 46,394,882 (GRCm39)	E258K	probably damaging	Het
Cep295	C	A	9: 15,233,815 (GRCm39)	R2327L	probably benign	Het
Col14a1	T	A	15: 55,226,923 (GRCm39)	D224E	unknown	Het
Col16a1	T	A	4: 129,971,016 (GRCm39)	S938T	unknown	Het
Col4a2	A	G	8: 11,493,227 (GRCm39)	E1340G	possibly damaging	Het
Col6a6	C	T	9: 105,661,276 (GRCm39)	V278M	probably damaging	Het
Crybg2	T	A	4: 133,799,890 (GRCm39)	L41Q	probably damaging	Het
Ctss	A	T	3: 95,436,867 (GRCm39)	D50V	possibly damaging	Het
Ddx56	C	T	11: 6,209,612 (GRCm39)	A500T	probably benign	Het
Dmbt1	T	C	7: 130,718,418 (GRCm39)	V1713A	unknown	Het
Dnah1	T	C	14: 30,987,970 (GRCm39)	I3483V	probably benign	Het
E130308A19Rik	T	A	4: 59,737,594 (GRCm39)	F402I	probably benign	Het
Eml6	A	T	11: 29,768,424 (GRCm39)	H754Q	probably damaging	Het
Ern2	A	G	7: 121,772,890 (GRCm39)	Y576H	probably damaging	Het
Fat4	T	C	3: 39,061,448 (GRCm39)	S4344P	probably benign	Het
Fbxo40	A	G	16: 36,790,150 (GRCm39)	I320T		Het
Fbxw22	C	T	9: 109,207,952 (GRCm39)	D440N	probably damaging	Het
Fgd2	A	G	17: 29,583,913 (GRCm39)	E109G	probably damaging	Het
Gm19410	A	T	8: 36,240,766 (GRCm39)	D214V	probably damaging	Het
Hivep2	T	C	10: 14,006,995 (GRCm39)	Y1198H	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,511,762 (GRCm39)	K69E	unknown	Het
Lrrc8e	G	A	8: 4,284,410 (GRCm39)	V212M	probably damaging	Het
Map2	A	T	1: 66,453,773 (GRCm39)	S888C	probably damaging	Het
Met	G	T	6: 17,548,715 (GRCm39)	G920*	probably null	Het
Mlkl	G	T	8: 112,049,365 (GRCm39)	R253S		Het
Mmachc	T	A	4: 116,561,829 (GRCm39)	I102F	probably damaging	Het
Mnt	G	T	11: 74,733,880 (GRCm39)	V504L	unknown	Het
Mup14	C	T	4: 61,258,496 (GRCm39)	G96D	probably damaging	Het
Myh13	G	A	11: 67,242,885 (GRCm39)	E933K	probably damaging	Het
Ncoa6	A	G	2: 155,249,726 (GRCm39)	S1193P	probably damaging	Het
Nek10	T	C	14: 14,931,314 (GRCm38)	I762T	probably damaging	Het
Nmur1	G	T	1: 86,315,252 (GRCm39)	F204L	probably benign	Het
Or1ak2	A	G	2: 36,827,988 (GRCm39)	N286D	probably damaging	Het
Or52e15	G	T	7: 104,645,301 (GRCm39)	P270Q	probably damaging	Het
Or8a1	T	A	9: 37,641,806 (GRCm39)	I158F	probably damaging	Het
Pappa2	T	C	1: 158,763,927 (GRCm39)	Y528C	probably damaging	Het
Patl1	T	C	19: 11,920,289 (GRCm39)	S748P	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Polr1a	A	G	6: 71,908,767 (GRCm39)	T531A	probably benign	Het
Slit3	C	T	11: 35,012,463 (GRCm39)	S41F	possibly damaging	Het
Snap29	A	G	16: 17,246,058 (GRCm39)	Q226R	probably damaging	Het
Spmip2	G	A	3: 79,337,429 (GRCm39)	G185D	probably damaging	Het
Tmpo	A	G	10: 90,989,138 (GRCm39)		probably null	Het
Tnfrsf21	G	A	17: 43,348,607 (GRCm39)	G73E	probably damaging	Het
Tsc1	T	A	2: 28,552,617 (GRCm39)	C119S	possibly damaging	Het
Uox	A	G	3: 146,330,369 (GRCm39)	Y199C	probably damaging	Het
Vav2	T	C	2: 27,187,708 (GRCm39)	D231G	possibly damaging	Het
Vmn2r80	A	T	10: 79,005,378 (GRCm39)	K338N	probably benign	Het
Xylt2	G	A	11: 94,561,229 (GRCm39)	T178I	probably benign	Het
Zfp931	G	T	2: 177,709,594 (GRCm39)	T264K	probably damaging	Het
Zgrf1	A	G	3: 127,377,326 (GRCm39)	D857G	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
IGL02089:Bnipl	APN	3	95,157,577 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACATTTGGTTCTGGGCCAGG -3'
(R):5'- ACCTGTTTGAAGATGAGGTTACC -3'

Sequencing Primer
(F):5'- GGCCAGGTTTCCTAATGGC -3'
(R):5'- GAGGTTACCTCCCTTCCACAC -3'

Posted On

2021-12-30