Mutagenetix > Incidental Mutation

Incidental Mutation 'R9592:Bnip3l'

723060

Institutional Source

Beutler Lab

Gene Symbol

Bnip3l

Ensembl Gene

ENSMUSG00000022051

Gene Name

BCL2/adenovirus E1B interacting protein 3-like

Synonyms

Nip3L, D14Ertd719e, Nix

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R9592 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67222688-67246326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67246214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 7 (P7L)

Ref Sequence

ENSEMBL: ENSMUSP00000022634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022634] [ENSMUST00000111115]

AlphaFold

Q9Z2F7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022634
AA Change: P7L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022634
Gene: ENSMUSG00000022051
AA Change: P7L

Domain	Start	End	E-Value	Type
Pfam:BNIP3	13	217	3.4e-88	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111115
AA Change: P7L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106744
Gene: ENSMUSG00000022051
AA Change: P7L

Domain	Start	End	E-Value	Type
Pfam:BNIP3	13	204	5.3e-80	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit abnormal morphology, decreased numbers and increased fragility of reticulocyte and erythcrocyte. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	T	9: 4,309,312 (GRCm39)	P42Q	probably benign	Het
Adat1	G	T	8: 112,709,314 (GRCm39)	P170T	probably benign	Het
Ap4e1	A	G	2: 126,903,588 (GRCm39)	D830G	probably benign	Het
Apc	T	A	18: 34,443,823 (GRCm39)	C605*	probably null	Het
Atp2b4	A	G	1: 133,659,568 (GRCm39)	S465P	probably damaging	Het
Cdhr3	A	G	12: 33,136,007 (GRCm39)	S78P	possibly damaging	Het
Ckap4	G	A	10: 84,364,175 (GRCm39)	T296M	probably damaging	Het
Cyp11a1	G	A	9: 57,925,605 (GRCm39)	R182H	possibly damaging	Het
Fem1b	A	T	9: 62,704,959 (GRCm39)	H100Q	probably damaging	Het
Gm5464	T	A	14: 67,106,366 (GRCm39)	M1K	probably null	Het
Igkv12-41	G	A	6: 69,835,579 (GRCm39)	Q58*	probably null	Het
Kcnq2	T	C	2: 180,728,813 (GRCm39)	Y572C	probably damaging	Het
Krt87	T	C	15: 101,386,060 (GRCm39)	T234A	probably benign	Het
Ksr2	G	A	5: 117,894,344 (GRCm39)	G828S	probably damaging	Het
Megf8	C	T	7: 25,028,228 (GRCm39)	T264M	probably benign	Het
Myof	A	T	19: 38,031,737 (GRCm39)	I12N	probably damaging	Het
Nsd1	T	G	13: 55,424,355 (GRCm39)	D1467E	probably damaging	Het
Nsrp1	A	T	11: 76,940,104 (GRCm39)	L167Q	probably damaging	Het
Nsun4	A	T	4: 115,908,852 (GRCm39)	H569Q	possibly damaging	Het
Or51q1	T	C	7: 103,629,179 (GRCm39)	V260A	possibly damaging	Het
Or5b105	A	G	19: 13,079,906 (GRCm39)	I254T	probably benign	Het
Pcdha7	A	T	18: 37,109,045 (GRCm39)	D690V	probably benign	Het
Pcdhb2	G	A	18: 37,429,266 (GRCm39)	R56Q	probably damaging	Het
Pcsk5	G	T	19: 17,652,899 (GRCm39)	Y262*	probably null	Het
Pdzd2	G	C	15: 12,458,106 (GRCm39)	N78K	probably damaging	Het
Pglyrp3	T	C	3: 91,938,859 (GRCm39)	F345L	probably benign	Het
Pnp2	T	A	14: 51,196,979 (GRCm39)	Y22N	probably damaging	Het
Pnp2	C	A	14: 51,196,981 (GRCm39)	Y22*	probably null	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rmdn1	T	C	4: 19,599,660 (GRCm39)	M206T	possibly damaging	Het
Rnf166	A	T	8: 123,197,048 (GRCm39)	L68Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Scin	C	T	12: 40,131,746 (GRCm39)	V263I	probably benign	Het
Secisbp2l	C	A	2: 125,582,561 (GRCm39)	R965L	probably damaging	Het
Senp2	G	A	16: 21,845,435 (GRCm39)	R223Q	possibly damaging	Het
Siglecf	C	A	7: 43,001,696 (GRCm39)	P169T	probably damaging	Het
Smpdl3b	G	A	4: 132,484,438 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,671,773 (GRCm39)	V184I	possibly damaging	Het
Tecta	G	T	9: 42,250,238 (GRCm39)	N1851K	probably damaging	Het
Thbs2	A	T	17: 14,899,083 (GRCm39)	S672R	probably damaging	Het
Tmtc4	T	C	14: 123,170,815 (GRCm39)	H485R	probably damaging	Het
Tns1	A	T	1: 74,029,553 (GRCm39)	S307R	probably damaging	Het
Usp15	C	A	10: 122,999,522 (GRCm39)	W220L	probably damaging	Het
Zfp64	A	T	2: 168,768,118 (GRCm39)	V498E	probably damaging	Het
Zfp820	G	T	17: 22,038,577 (GRCm39)	S250R	probably benign	Het
Zfr2	A	T	10: 81,069,580 (GRCm39)	N2I	unknown	Het

Other mutations in Bnip3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2070:Bnip3l	UTSW	14	67,226,671 (GRCm39)	missense	probably damaging	0.99
R4062:Bnip3l	UTSW	14	67,246,187 (GRCm39)	missense	possibly damaging	0.71
R4828:Bnip3l	UTSW	14	67,246,208 (GRCm39)	missense	probably damaging	0.98
R5068:Bnip3l	UTSW	14	67,237,081 (GRCm39)	missense	possibly damaging	0.74
R5139:Bnip3l	UTSW	14	67,237,064 (GRCm39)	missense	probably damaging	1.00
R5327:Bnip3l	UTSW	14	67,225,180 (GRCm39)	missense	probably damaging	1.00
R6995:Bnip3l	UTSW	14	67,237,101 (GRCm39)	missense	probably benign	0.33
R8050:Bnip3l	UTSW	14	67,226,651 (GRCm39)	missense	probably damaging	1.00
R9503:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9504:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9532:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9534:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9537:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9540:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9590:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9591:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9593:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9638:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9639:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9669:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9670:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9672:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9734:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9735:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9737:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9738:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9740:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93
R9767:Bnip3l	UTSW	14	67,246,214 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTCCCAACCAATGAGCTGTC -3'
(R):5'- CAGCTGCCTGTGTTGTCATC -3'

Sequencing Primer
(F):5'- AACCAATGAGCTGTCGTCTG -3'
(R):5'- TGTCATCACATGGTCCGGGAG -3'

Posted On

2022-08-09