Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Oxa1l'

5877

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oxa1l

Ensembl Gene

ENSMUSG00000000959

Gene Name

oxidase assembly 1-like

Synonyms

1810020M02Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

54360834-54369673 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 54363345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 92 (G92*)

Ref Sequence

ENSEMBL: ENSMUSP00000000985 (fasta)

Gene Model

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

AlphaFold

Q8BGA9

Predicted Effect

probably null
Transcript: ENSMUST00000000985
AA Change: G92*

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: G92*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228567

Predicted Effect

probably benign
Transcript: ENSMUST00000228719

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Oxa1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0196:Oxa1l	UTSW	14	54363487	missense	probably damaging	1.00
R0541:Oxa1l	UTSW	14	54368189	missense	possibly damaging	0.80
R1773:Oxa1l	UTSW	14	54363452	missense	probably benign	0.01
R2197:Oxa1l	UTSW	14	54361467	missense	probably benign	0.29
R5652:Oxa1l	UTSW	14	54366832	nonsense	probably null
R5850:Oxa1l	UTSW	14	54367664	missense	possibly damaging	0.87
R5898:Oxa1l	UTSW	14	54363301	missense	possibly damaging	0.50
R6088:Oxa1l	UTSW	14	54367694	critical splice donor site	probably null
R6162:Oxa1l	UTSW	14	54368332	missense	probably damaging	1.00
R6869:Oxa1l	UTSW	14	54366738	missense	probably damaging	1.00
R7244:Oxa1l	UTSW	14	54360855	start codon destroyed	probably benign	0.33
R7247:Oxa1l	UTSW	14	54360855	start codon destroyed	probably benign	0.33
R7317:Oxa1l	UTSW	14	54360855	start codon destroyed	probably benign	0.33
R7562:Oxa1l	UTSW	14	54363477	missense	probably damaging	1.00
R7939:Oxa1l	UTSW	14	54367419	missense	probably benign	0.00
R8018:Oxa1l	UTSW	14	54363300	missense	not run
R8245:Oxa1l	UTSW	14	54367817	missense	probably damaging	1.00
R8275:Oxa1l	UTSW	14	54363301	missense	possibly damaging	0.50
R8483:Oxa1l	UTSW	14	54368544	splice site	probably null
R8679:Oxa1l	UTSW	14	54367791	critical splice acceptor site	probably null

Posted On

2012-04-20