Mutagenetix > Incidental Mutation

Incidental Mutation 'R7244:Oxa1l'

563427

Institutional Source

Beutler Lab

Gene Symbol

Oxa1l

Ensembl Gene

ENSMUSG00000000959

Gene Name

oxidase assembly 1-like

Synonyms

1810020M02Rik

MMRRC Submission

045308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54598298-54607130 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 54598312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000000985 (fasta)

Gene Model

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

AlphaFold

Q8BGA9

Predicted Effect

probably benign
Transcript: ENSMUST00000000985
AA Change: M1L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: M1L

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

Meta Mutation Damage Score

0.8959

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (45/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,170,350 (GRCm39)	F983L	probably damaging	Het
Cc2d1b	T	A	4: 108,486,799 (GRCm39)	M632K	probably benign	Het
Cdyl2	G	A	8: 117,301,999 (GRCm39)	R461*	probably null	Het
Cfap57	G	A	4: 118,411,997 (GRCm39)	Q1216*	probably null	Het
Chd1l	A	T	3: 97,505,066 (GRCm39)	V167E	probably damaging	Het
Col6a1	C	A	10: 76,553,242 (GRCm39)	G391*	probably null	Het
Ctsc	C	A	7: 87,951,430 (GRCm39)	Q226K	probably benign	Het
Cyp2c54	A	G	19: 40,035,953 (GRCm39)	V319A	probably damaging	Het
Dnah7b	T	C	1: 46,316,303 (GRCm39)	S3139P	probably damaging	Het
Edrf1	T	C	7: 133,256,079 (GRCm39)	S643P	probably benign	Het
Fam186a	A	T	15: 99,844,273 (GRCm39)	V657D	unknown	Het
Fkbp11	A	G	15: 98,626,073 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,823,607 (GRCm39)	A6447T	possibly damaging	Het
H2-T9	C	A	17: 36,438,496 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,276,307 (GRCm39)	D3017G	probably damaging	Het
Ifi205	G	A	1: 173,845,210 (GRCm39)	Q191*	probably null	Het
Mbd4	C	T	6: 115,821,564 (GRCm39)	D484N	probably benign	Het
Med24	C	T	11: 98,605,223 (GRCm39)		probably null	Het
Mis18bp1	T	C	12: 65,208,404 (GRCm39)	N103S	probably damaging	Het
Mmd2	T	C	5: 142,550,587 (GRCm39)	H217R	probably damaging	Het
Mn1	C	T	5: 111,566,699 (GRCm39)	T223M	possibly damaging	Het
Ms4a4a	A	G	19: 11,358,794 (GRCm39)	Y84C	probably damaging	Het
Mup5	A	T	4: 61,749,818 (GRCm39)		probably null	Het
Mybl2	C	T	2: 162,924,605 (GRCm39)	P658S	probably benign	Het
Mycbp2	C	A	14: 103,446,345 (GRCm39)	V1828L	probably damaging	Het
Myh15	T	C	16: 49,017,149 (GRCm39)	Y1887H	probably damaging	Het
Nadk2	A	G	15: 9,083,271 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,156,055 (GRCm39)	N541D	probably damaging	Het
Or52e8b	A	G	7: 104,674,148 (GRCm39)	V13A	probably benign	Het
Or52i2	G	T	7: 102,319,046 (GRCm39)		probably benign	Het
Pcdha11	A	T	18: 37,144,421 (GRCm39)	R171*	probably null	Het
Pkd1l1	A	T	11: 8,821,771 (GRCm39)	V1641E		Het
Pramel28	A	T	4: 143,692,455 (GRCm39)	M182K	probably benign	Het
Prom1	T	A	5: 44,178,242 (GRCm39)	I497L	probably benign	Het
Rasgef1b	T	C	5: 99,706,753 (GRCm39)	K41E	possibly damaging	Het
Rasgrf1	T	C	9: 89,876,810 (GRCm39)	F725S	probably damaging	Het
Ryr2	T	A	13: 11,612,032 (GRCm39)	S3962C	probably damaging	Het
Sema5b	A	T	16: 35,480,915 (GRCm39)	T829S	probably benign	Het
Tdp2	A	G	13: 25,025,284 (GRCm39)	D351G	probably benign	Het
Tet3	A	T	6: 83,347,603 (GRCm39)	D1130E	probably damaging	Het
Tg	T	C	15: 66,612,563 (GRCm39)	C1993R	probably damaging	Het
Tll1	T	C	8: 64,478,222 (GRCm39)	I844V	probably benign	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Vmn2r109	A	G	17: 20,760,945 (GRCm39)	V804A	possibly damaging	Het
Vps13c	T	C	9: 67,797,086 (GRCm39)	V491A	probably benign	Het
Xpo5	G	T	17: 46,525,551 (GRCm39)	G233C	probably damaging	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
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
R8018:Oxa1l	UTSW	14	54,600,757 (GRCm39)	missense	not run
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

PCR Primer
(F):5'- CAGCGCATCCTGTCTCTTAG -3'
(R):5'- GGCAGTTTCCAAACAGCTACAG -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAAGCTGGC -3'
(R):5'- GTTTCCAAACAGCTACAGAGAAAC -3'

Posted On

2019-06-26