Mutagenetix > Incidental Mutation

Incidental Mutation 'R8483:Oxa1l'

668216

Institutional Source

Beutler Lab

Gene Symbol

Oxa1l

Ensembl Gene

ENSMUSG00000000959

Gene Name

oxidase assembly 1-like

Synonyms

1810020M02Rik

MMRRC Submission

067927-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54598298-54607130 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 54606001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000984] [ENSMUST00000000985] [ENSMUST00000195970] [ENSMUST00000197440] [ENSMUST00000226753]

AlphaFold

Q8BGA9

Predicted Effect

probably benign
Transcript: ENSMUST00000000984

SMART Domains

Protein: ENSMUSP00000000984
Gene: ENSMUSG00000000958

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	463	2e-64	PFAM
Pfam:AA_permease	43	463	6.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000000985

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959

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

probably benign
Transcript: ENSMUST00000195970

SMART Domains

Protein: ENSMUSP00000143091
Gene: ENSMUSG00000000958

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	462	6.4e-66	PFAM
Pfam:AA_permease	43	467	5.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197440

SMART Domains

Protein: ENSMUSP00000143743
Gene: ENSMUSG00000000958

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	463	2e-64	PFAM
Pfam:AA_permease	43	463	6.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226753

Predicted Effect

probably null
Transcript: ENSMUST00000228719

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,285 (GRCm39)	*148Q	probably null	Het
Ankrd28	A	T	14: 31,457,048 (GRCm39)		probably null	Het
Ark2c	G	A	18: 77,556,034 (GRCm39)	A174V	probably benign	Het
Aurkc	T	A	7: 6,999,664 (GRCm39)	L57*	probably null	Het
Brca1	T	C	11: 101,416,802 (GRCm39)	D444G	probably damaging	Het
Cd200l1	T	A	16: 45,240,235 (GRCm39)	I134F	possibly damaging	Het
Cdhr4	T	C	9: 107,872,198 (GRCm39)	V204A	probably damaging	Het
Chd7	A	G	4: 8,822,412 (GRCm39)	D835G	possibly damaging	Het
Cux1	C	A	5: 136,303,944 (GRCm39)	A1328S	possibly damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp39a1	A	G	17: 43,993,898 (GRCm39)	D186G	probably benign	Het
Dnah3	T	C	7: 119,536,253 (GRCm39)	I3677V	probably benign	Het
Dnmt3b	A	G	2: 153,516,306 (GRCm39)	D477G	probably damaging	Het
Drc1	A	T	5: 30,507,785 (GRCm39)	Y269F	probably benign	Het
Esco2	T	C	14: 66,069,118 (GRCm39)	H64R	probably benign	Het
Gcnt3	A	T	9: 69,941,959 (GRCm39)	V203E	probably damaging	Het
Gpam	A	C	19: 55,077,374 (GRCm39)	V139G	probably damaging	Het
Gsta3	G	A	1: 21,333,063 (GRCm39)	S104N	probably damaging	Het
Hsd17b13	C	T	5: 104,125,049 (GRCm39)	G45R	probably damaging	Het
Ighe	T	C	12: 113,235,808 (GRCm39)	M173V		Het
Ipo5	A	G	14: 121,183,560 (GRCm39)	E1046G	probably benign	Het
Kank4	T	A	4: 98,659,615 (GRCm39)	Q821L	probably damaging	Het
Kat6b	G	T	14: 21,719,461 (GRCm39)	S1271I	probably damaging	Het
Klhl1	A	G	14: 96,619,370 (GRCm39)	S176P	probably benign	Het
Lbhd2	G	A	12: 111,378,190 (GRCm39)	D86N	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Lrrc55	A	T	2: 85,022,295 (GRCm39)	C299S	probably benign	Het
Mtres1	T	C	10: 43,408,915 (GRCm39)	Y76C	probably benign	Het
Nprl3	T	A	11: 32,213,083 (GRCm39)	S44C	probably damaging	Het
Nucks1	A	G	1: 131,855,829 (GRCm39)	H86R	possibly damaging	Het
Or14j3	A	G	17: 37,900,866 (GRCm39)	V126A	possibly damaging	Het
Or4s2	A	G	2: 88,473,678 (GRCm39)	D189G	probably benign	Het
Or6c219	T	A	10: 129,780,998 (GRCm39)	H311L	probably benign	Het
Ovgp1	T	A	3: 105,894,311 (GRCm39)		probably benign	Het
Patj	C	A	4: 98,312,539 (GRCm39)	H292Q	probably damaging	Het
Pcdha9	A	G	18: 37,131,636 (GRCm39)	N235S	probably benign	Het
Pcdhb12	A	T	18: 37,570,590 (GRCm39)	T579S	possibly damaging	Het
Pde3b	A	G	7: 114,118,803 (GRCm39)	I647M	probably benign	Het
Pdp1	T	C	4: 11,961,982 (GRCm39)	R110G	probably benign	Het
Prb1a	T	G	6: 132,185,398 (GRCm39)	R78S	unknown	Het
Prmt8	A	C	6: 127,680,976 (GRCm39)		probably null	Het
Semp2l2a	T	A	8: 13,888,229 (GRCm39)		probably benign	Het
Slc35f2	T	A	9: 53,716,985 (GRCm39)	Y249*	probably null	Het
Smok2b	A	C	17: 13,453,908 (GRCm39)	M23L	probably benign	Het
Sra1	A	G	18: 36,800,879 (GRCm39)	I153T	probably benign	Het
Stk38l	T	A	6: 146,660,017 (GRCm39)	H16Q	possibly damaging	Het
Tent5c	T	A	3: 100,379,784 (GRCm39)	H324L	probably damaging	Het
Unc80	T	C	1: 66,732,869 (GRCm39)	S3073P	possibly damaging	Het
Usp24	T	C	4: 106,230,953 (GRCm39)	I844T	probably damaging	Het
V1ra8	A	T	6: 90,179,916 (GRCm39)	I40F	probably benign	Het
Vmn2r88	T	A	14: 51,650,530 (GRCm39)	M81K	possibly damaging	Het
Vps8	T	C	16: 21,393,763 (GRCm39)	I1182T	probably damaging	Het
Wdr54	A	G	6: 83,130,591 (GRCm39)	V181A	probably benign	Het
Zbed4	A	G	15: 88,665,990 (GRCm39)	Y686C	probably damaging	Het
Zfyve28	T	C	5: 34,393,480 (GRCm39)	N62S	possibly damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	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
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
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
R8679:Oxa1l	UTSW	14	54,605,248 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GACTTTTACGCACAACCCTCTG -3'
(R):5'- GGCAAGGGAAATCATCTCCC -3'

Sequencing Primer
(F):5'- GCTGCAGCATGATCCAAGTC -3'
(R):5'- CACCCTGTCGTGTTCAGAAG -3'

Posted On

2021-04-29