Mutagenetix > Incidental Mutation

Incidental Mutation 'R9638:Bnip3l'

725838

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 #

R9638 (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: 99.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	G	4: 53,092,806 (GRCm39)	E326A	probably damaging	Het
Aldh1a1	T	A	19: 20,614,100 (GRCm39)	N423K	probably benign	Het
Aldh4a1	T	A	4: 139,371,427 (GRCm39)	I447N	probably damaging	Het
Atg9b	T	C	5: 24,596,406 (GRCm39)	D170G	possibly damaging	Het
Bnc2	C	T	4: 84,332,492 (GRCm39)	V75M	probably damaging	Het
Ccdc162	C	A	10: 41,437,159 (GRCm39)	C1750F	probably benign	Het
Cdh10	T	A	15: 18,964,301 (GRCm39)	N154K	probably damaging	Het
Cdh22	T	C	2: 164,988,687 (GRCm39)	I223V	probably damaging	Het
Ces1b	T	A	8: 93,806,534 (GRCm39)	H4L	probably benign	Het
Cfap46	A	T	7: 139,209,763 (GRCm39)	F1806I	unknown	Het
Cwh43	T	A	5: 73,565,486 (GRCm39)	V17D	possibly damaging	Het
Ddx3y	C	T	Y: 1,263,599 (GRCm39)	G623D	probably benign	Het
Dtna	A	T	18: 23,744,122 (GRCm39)	I389L	probably benign	Het
F830016B08Rik	A	G	18: 60,432,956 (GRCm39)	D13G	probably benign	Het
Fam161b	T	C	12: 84,403,187 (GRCm39)	I148V	probably benign	Het
Fhip1a	T	A	3: 85,568,391 (GRCm39)	N1043Y	probably damaging	Het
Fli1	T	C	9: 32,388,020 (GRCm39)	Y23C	probably damaging	Het
Gimap6	A	G	6: 48,679,424 (GRCm39)	V204A	probably benign	Het
Ighv4-1	T	G	12: 113,911,904 (GRCm39)	R116S	probably damaging	Het
Isx	T	C	8: 75,619,566 (GRCm39)	L239P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt81	T	C	15: 101,358,856 (GRCm39)	T299A	probably benign	Het
Lrrc30	A	G	17: 67,939,226 (GRCm39)	L118P	probably damaging	Het
Mapk8ip3	T	C	17: 25,118,023 (GRCm39)	T1290A	probably benign	Het
Mef2b	ACCCTCACCC	ACC	8: 70,619,506 (GRCm39)		probably null	Het
Meltf	G	A	16: 31,706,409 (GRCm39)	E298K	possibly damaging	Het
Muc16	T	A	9: 18,550,626 (GRCm39)	E5222D	probably benign	Het
Nin	T	C	12: 70,067,618 (GRCm39)	N2003S		Het
Or1e23	A	G	11: 73,407,875 (GRCm39)	I50T	probably benign	Het
Or2b4	G	A	17: 38,116,509 (GRCm39)	V158M	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Palld	A	G	8: 62,002,788 (GRCm39)	V826A	unknown	Het
Paxbp1	C	A	16: 90,831,881 (GRCm39)	V336L	probably benign	Het
Paxbp1	T	A	16: 90,831,882 (GRCm39)	E335D	probably benign	Het
Por	C	A	5: 135,754,615 (GRCm39)	Q12K	unknown	Het
Pot1a	G	A	6: 25,750,106 (GRCm39)	Q519*	probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Ptger4	A	G	15: 5,264,693 (GRCm39)	F321S	probably damaging	Het
Ptk7	A	G	17: 46,890,519 (GRCm39)	Y438H	possibly damaging	Het
Rimklb	A	T	6: 122,433,558 (GRCm39)	N254K	probably benign	Het
Rpn2	A	T	2: 157,125,566 (GRCm39)	T26S	probably benign	Het
Rtn4rl2	A	T	2: 84,710,760 (GRCm39)	L168H	probably damaging	Het
Scel	G	T	14: 103,779,409 (GRCm39)	A127S	possibly damaging	Het
Sema4a	T	A	3: 88,357,066 (GRCm39)	N302Y	probably damaging	Het
Supt3	A	G	17: 45,234,133 (GRCm39)	T50A	possibly damaging	Het
Upf3a	G	A	8: 13,848,343 (GRCm39)	A380T	probably benign	Het
Zbtb14	G	A	17: 69,695,375 (GRCm39)	E358K	probably damaging	Het
Zfp677	A	T	17: 21,618,056 (GRCm39)	H371L	probably damaging	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
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'- TCTCGGTCCCAACCAATGAG -3'
(R):5'- TGCCTGTGTTGTCATCACATG -3'

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

Posted On

2022-09-12