Mutagenetix > Incidental Mutation

Incidental Mutation 'R8018:Oxa1l'

617230

Institutional Source

Beutler Lab

Gene Symbol

Oxa1l

Ensembl Gene

ENSMUSG00000000959

Gene Name

oxidase assembly 1-like

Synonyms

1810020M02Rik

MMRRC Submission

067458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8018 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54598298-54607130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54600757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 77 (I77V)

Ref Sequence

ENSEMBL: ENSMUSP00000000985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000985]

AlphaFold

Q8BGA9

Predicted Effect

not run
Transcript: ENSMUST00000000985
AA Change: I77V

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: I77V

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	29	41	N/A	INTRINSIC
Pfam:60KD_IMP	135	330	4.1e-28	PFAM
low complexity region	406	427	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,880,991 (GRCm39)	T146I	unknown	Het
Abca16	A	G	7: 120,132,866 (GRCm39)	E1265G	probably benign	Het
Adar	T	C	3: 89,654,882 (GRCm39)	S924P	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankmy1	A	T	1: 92,814,003 (GRCm39)	L392Q	probably benign	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Ccdc158	T	C	5: 92,771,260 (GRCm39)	D985G	possibly damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Ctbp2	T	C	7: 132,616,095 (GRCm39)	K280R	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnaaf4	T	A	9: 72,879,598 (GRCm39)		probably benign	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Elfn2	A	G	15: 78,557,968 (GRCm39)	L193P	probably damaging	Het
Fcrl2	A	T	3: 87,166,933 (GRCm39)	L20*	probably null	Het
Flcn	T	C	11: 59,684,948 (GRCm39)	D501G	probably damaging	Het
Gmip	A	G	8: 70,268,143 (GRCm39)	E399G	probably benign	Het
Grm7	A	G	6: 111,184,737 (GRCm39)	E356G	probably benign	Het
Hs3st2	A	G	7: 121,099,639 (GRCm39)		probably null	Het
Kcnh2	G	A	5: 24,525,014 (GRCm39)	S1158L	probably damaging	Het
Lancl2	A	G	6: 57,690,078 (GRCm39)	T104A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mthfd2l	T	A	5: 91,107,672 (GRCm39)	I178N	probably damaging	Het
Nbeal2	G	T	9: 110,458,225 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,006 (GRCm39)	K564*	probably null	Het
Nipal3	C	T	4: 135,174,659 (GRCm39)	R364H	possibly damaging	Het
Or2b4	A	G	17: 38,116,038 (GRCm39)	M1V	probably null	Het
Phf10	T	A	17: 15,174,378 (GRCm39)	Q233H	possibly damaging	Het
Pias2	T	A	18: 77,216,654 (GRCm39)	N288K	probably benign	Het
Pramel43	T	C	5: 94,761,839 (GRCm39)	N244S	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Ralgapa2	T	C	2: 146,182,311 (GRCm39)	D1676G	probably damaging	Het
Rapgefl1	T	G	11: 98,731,166 (GRCm39)		probably null	Het
Rrp7a	C	T	15: 83,001,125 (GRCm39)	E269K	possibly damaging	Het
Ryr3	A	C	2: 112,508,777 (GRCm39)	M3399R	probably damaging	Het
Secisbp2l	C	A	2: 125,587,829 (GRCm39)	R762L	probably damaging	Het
Smad7	T	G	18: 75,502,355 (GRCm39)	L110R	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tcea3	T	G	4: 135,985,229 (GRCm39)		probably benign	Het
Tdrd9	T	C	12: 111,999,180 (GRCm39)	V765A	probably benign	Het
Tdrd9	C	T	12: 112,010,822 (GRCm39)	R1130W	probably damaging	Het
Tia1	C	T	6: 86,402,034 (GRCm39)	P189S	probably benign	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ubxn8	A	G	8: 34,113,243 (GRCm39)	C204R	probably damaging	Het
Vmn1r76	A	G	7: 11,664,810 (GRCm39)	S135P	probably damaging	Het
Vps18	T	A	2: 119,124,492 (GRCm39)	L473H	probably damaging	Het
Zfp444	A	G	7: 6,191,142 (GRCm39)	T108A	probably benign	Het

Other mutations in Oxa1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Oxa1l	APN	14	54,600,802 (GRCm39)	nonsense	probably null
R0196:Oxa1l	UTSW	14	54,600,944 (GRCm39)	missense	probably damaging	1.00
R0541:Oxa1l	UTSW	14	54,605,646 (GRCm39)	missense	possibly damaging	0.80
R1773:Oxa1l	UTSW	14	54,600,909 (GRCm39)	missense	probably benign	0.01
R2197:Oxa1l	UTSW	14	54,598,924 (GRCm39)	missense	probably benign	0.29
R5652:Oxa1l	UTSW	14	54,604,289 (GRCm39)	nonsense	probably null
R5850:Oxa1l	UTSW	14	54,605,121 (GRCm39)	missense	possibly damaging	0.87
R5898:Oxa1l	UTSW	14	54,600,758 (GRCm39)	missense	possibly damaging	0.50
R6088:Oxa1l	UTSW	14	54,605,151 (GRCm39)	critical splice donor site	probably null
R6162:Oxa1l	UTSW	14	54,605,789 (GRCm39)	missense	probably damaging	1.00
R6869:Oxa1l	UTSW	14	54,604,195 (GRCm39)	missense	probably damaging	1.00
R7244:Oxa1l	UTSW	14	54,598,312 (GRCm39)	start codon destroyed	probably benign	0.33
R7247:Oxa1l	UTSW	14	54,598,312 (GRCm39)	start codon destroyed	probably benign	0.33
R7317:Oxa1l	UTSW	14	54,598,312 (GRCm39)	start codon destroyed	probably benign	0.33
R7562:Oxa1l	UTSW	14	54,600,934 (GRCm39)	missense	probably damaging	1.00
R7939:Oxa1l	UTSW	14	54,604,876 (GRCm39)	missense	probably benign	0.00
R8245:Oxa1l	UTSW	14	54,605,274 (GRCm39)	missense	probably damaging	1.00
R8275:Oxa1l	UTSW	14	54,600,758 (GRCm39)	missense	possibly damaging	0.50
R8483:Oxa1l	UTSW	14	54,606,001 (GRCm39)	splice site	probably null
R8679:Oxa1l	UTSW	14	54,605,248 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

Posted On

2020-01-23