Mutagenetix > Incidental Mutation

Incidental Mutation 'R9672:Bnip3l'

728115

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 #

R9672 (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: 99.7%
20x: 99.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,838,563 (GRCm39)	K612N	probably null	Het
Atrnl1	G	A	19: 57,618,695 (GRCm39)	A138T	possibly damaging	Het
Bicc1	T	C	10: 70,794,666 (GRCm39)	T164A	probably damaging	Het
Ccdc7a	A	G	8: 129,671,016 (GRCm39)	S497P	unknown	Het
Cd209d	C	G	8: 3,922,036 (GRCm39)	G212A	probably damaging	Het
Cog8	A	G	8: 107,780,658 (GRCm39)	I200T	probably damaging	Het
Cuzd1	T	A	7: 130,919,847 (GRCm39)	I90F	possibly damaging	Het
Cyp4a30b	T	A	4: 115,316,576 (GRCm39)	C401S	probably benign	Het
Cyp4a31	T	A	4: 115,427,422 (GRCm39)	N209K	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dcaf11	T	A	14: 55,806,484 (GRCm39)	Y468*	probably null	Het
Dennd4a	A	G	9: 64,800,640 (GRCm39)	D926G	probably benign	Het
Dph7	T	C	2: 24,855,606 (GRCm39)	L135P	probably benign	Het
Fcho2	A	T	13: 98,869,178 (GRCm39)	C564*	probably null	Het
Gabrb2	G	A	11: 42,312,207 (GRCm39)	G11R	probably benign	Het
Gas6	A	G	8: 13,528,273 (GRCm39)	S187P	probably benign	Het
Gemin5	C	T	11: 58,058,585 (GRCm39)	V93I	probably benign	Het
Gldn	A	T	9: 54,245,780 (GRCm39)	I444F	probably damaging	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Hand1	A	G	11: 57,722,516 (GRCm39)	S33P	possibly damaging	Het
Ice2	G	A	9: 69,322,899 (GRCm39)	A465T	probably benign	Het
Irf9	T	C	14: 55,842,129 (GRCm39)	S2P	probably benign	Het
Kpna7	C	T	5: 144,944,776 (GRCm39)	M21I	probably benign	Het
Lig4	A	G	8: 10,023,213 (GRCm39)	M189T	probably damaging	Het
Lrp1b	T	C	2: 40,779,291 (GRCm39)	T2698A		Het
Med10	A	G	13: 69,963,711 (GRCm39)	K104R	probably benign	Het
Mfsd14b	A	G	13: 65,260,320 (GRCm39)	W38R	probably benign	Het
Mrgpra2a	A	G	7: 47,076,490 (GRCm39)	F256S	probably benign	Het
Myo9a	A	G	9: 59,687,332 (GRCm39)	K146E	probably benign	Het
Oxgr1	T	A	14: 120,259,454 (GRCm39)	Y251F	probably damaging	Het
Pabpc4	T	C	4: 123,184,133 (GRCm39)		probably null	Het
Pde8a	A	G	7: 80,942,014 (GRCm39)	N151S	probably damaging	Het
Pdilt	A	G	7: 119,100,824 (GRCm39)	F176L	possibly damaging	Het
Plekhg5	C	A	4: 152,187,541 (GRCm39)	D115E	probably benign	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Ppp1r9a	T	C	6: 5,007,889 (GRCm39)	C532R	unknown	Het
Rasa2	A	G	9: 96,427,781 (GRCm39)	W695R	probably damaging	Het
Rbpms2	A	G	9: 65,538,118 (GRCm39)	N3S	probably benign	Het
Rsph6a	A	G	7: 18,799,842 (GRCm39)	Y491C	probably damaging	Het
Scel	T	A	14: 103,836,838 (GRCm39)	N495K	possibly damaging	Het
Setd1a	T	C	7: 127,385,237 (GRCm39)	L648P	possibly damaging	Het
Snx29	A	T	16: 11,478,515 (GRCm39)	R333S	probably benign	Het
Sppl2c	A	G	11: 104,077,344 (GRCm39)	Y48C	probably damaging	Het
Uba2	A	T	7: 33,856,749 (GRCm39)	N230K	probably benign	Het
Utrn	T	C	10: 12,603,613 (GRCm39)	Q589R	possibly damaging	Het
Vmn1r51	T	A	6: 90,106,549 (GRCm39)	L155H	probably damaging	Het
Vmn2r97	A	G	17: 19,149,442 (GRCm39)	N277D	probably benign	Het
Wdr97	T	A	15: 76,240,377 (GRCm39)	V355E		Het
Yy1	C	A	12: 108,759,584 (GRCm39)	H82Q	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
R9592: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
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

2022-10-06