Mutagenetix > Incidental Mutation

Incidental Mutation 'R6869:Oxa1l'

536107

Institutional Source

Beutler Lab

Gene Symbol

Oxa1l

Ensembl Gene

ENSMUSG00000000959

Gene Name

oxidase assembly 1-like

Synonyms

1810020M02Rik

MMRRC Submission

044966-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6869 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54598298-54607130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54604195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 152 (P152S)

Ref Sequence

ENSEMBL: ENSMUSP00000000985 (fasta)

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 damaging
Transcript: ENSMUST00000000985
AA Change: P152S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: P152S

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 benign
Transcript: ENSMUST00000228719

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,507,042 (GRCm39)		probably null	Het
Ankdd1b	A	T	13: 96,580,799 (GRCm39)	N166K	possibly damaging	Het
Arhgap30	G	T	1: 171,236,623 (GRCm39)	R999L	probably damaging	Het
Bnc2	T	A	4: 84,211,733 (GRCm39)	D212V	probably damaging	Het
Bpifb5	T	C	2: 154,075,143 (GRCm39)	I357T	probably benign	Het
Catsperb	T	C	12: 101,446,996 (GRCm39)	F208S	probably benign	Het
Cc2d2b	T	A	19: 40,797,898 (GRCm39)	H1105Q	probably benign	Het
Chchd6	T	C	6: 89,572,478 (GRCm39)	D17G	probably damaging	Het
Chd6	T	C	2: 160,807,650 (GRCm39)	S1855G	probably benign	Het
Cpe	A	G	8: 65,072,461 (GRCm39)	V143A	probably benign	Het
Cyfip1	T	A	7: 55,557,113 (GRCm39)	V770D	possibly damaging	Het
Cyp1a1	A	T	9: 57,610,067 (GRCm39)	M494L	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
Dnah2	T	A	11: 69,320,297 (GRCm39)	N3924I	probably damaging	Het
F830045P16Rik	T	C	2: 129,316,481 (GRCm39)	E76G	probably damaging	Het
Fam91a1	T	A	15: 58,303,117 (GRCm39)	V342E	probably benign	Het
Fastkd1	G	A	2: 69,533,104 (GRCm39)	A421V	probably benign	Het
Fgf20	T	C	8: 40,734,189 (GRCm39)	Y64C	probably damaging	Het
Gen1	A	T	12: 11,291,442 (GRCm39)	N847K	probably benign	Het
Gm4922	A	T	10: 18,660,263 (GRCm39)	I153K	probably damaging	Het
Gm6619	T	C	6: 131,463,401 (GRCm39)	I6T	unknown	Het
H2-Ab1	T	C	17: 34,486,537 (GRCm39)	Y199H	probably damaging	Het
Hdac7	C	A	15: 97,694,057 (GRCm39)	L737F	probably damaging	Het
Hells	A	G	19: 38,929,079 (GRCm39)	N121D	probably benign	Het
Itga2	G	A	13: 115,012,073 (GRCm39)		probably null	Het
Itgb1	A	G	8: 129,446,516 (GRCm39)	D391G	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lbx1	T	A	19: 45,223,390 (GRCm39)	S93C	probably damaging	Het
Lmod2	T	C	6: 24,604,126 (GRCm39)	M367T	probably benign	Het
Lrrc43	G	A	5: 123,642,339 (GRCm39)		probably null	Het
Man2a2	C	T	7: 80,012,693 (GRCm39)	G574D	probably benign	Het
Mier2	T	G	10: 79,378,503 (GRCm39)	K343T	probably damaging	Het
Msh5	A	T	17: 35,260,810 (GRCm39)		probably null	Het
Mtus1	T	C	8: 41,535,691 (GRCm39)	Q675R	possibly damaging	Het
Ncan	A	T	8: 70,560,557 (GRCm39)	H803Q	probably benign	Het
Nckap5l	A	G	15: 99,324,334 (GRCm39)	V723A	probably damaging	Het
Nectin3	G	A	16: 46,215,506 (GRCm39)	R79C	probably damaging	Het
Nlrc5	A	G	8: 95,248,583 (GRCm39)	E1735G	probably benign	Het
Nrros	A	G	16: 31,963,249 (GRCm39)	L220S	probably damaging	Het
Or52r1c	G	A	7: 102,735,075 (GRCm39)	V112M	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Pdcd6ip	A	G	9: 113,484,174 (GRCm39)	Y818H	unknown	Het
Pik3cb	A	T	9: 98,942,312 (GRCm39)	S682T	probably benign	Het
Ppp1r3a	A	C	6: 14,754,825 (GRCm39)	S141A	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,349,055 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,463,074 (GRCm39)		probably benign	Het
Rcbtb1	T	C	14: 59,455,051 (GRCm39)	V95A	probably benign	Het
Retreg3	G	A	11: 101,010,644 (GRCm39)		probably benign	Het
Rhobtb1	T	C	10: 69,106,056 (GRCm39)	L207P	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3bgr	A	G	16: 96,007,860 (GRCm39)	Y75C	probably damaging	Het
Strip1	T	C	3: 107,520,761 (GRCm39)	D763G	probably damaging	Het
Stxbp5l	A	T	16: 37,024,810 (GRCm39)	V596E	possibly damaging	Het
Tas2r138	A	G	6: 40,589,355 (GRCm39)	I297T	probably damaging	Het
Topors	A	C	4: 40,261,201 (GRCm39)	N694K	unknown	Het
Tymp	T	C	15: 89,260,894 (GRCm39)	R20G	probably benign	Het
Ubr4	A	G	4: 139,194,538 (GRCm39)	T1144A	possibly damaging	Het
Unc79	A	T	12: 103,079,331 (GRCm39)	Q1636L	probably benign	Het
Vmn1r78	A	G	7: 11,886,676 (GRCm39)	M96V	probably benign	Het
Wfdc8	C	T	2: 164,441,012 (GRCm39)	D244N	possibly damaging	Het
Zbtb49	G	T	5: 38,371,694 (GRCm39)	N62K	probably damaging	Het
Zfp579	G	T	7: 4,997,460 (GRCm39)	D150E	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
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
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'- AGCACTCTGAGCCTTGAAGAG -3'
(R):5'- ATCCTATTCTTTCCAAGGAACGG -3'

Sequencing Primer
(F):5'- CCTTGAAGAGCTAGGTATACCCTG -3'
(R):5'- GTTCCTTCCCCCAGTGGAATG -3'

Posted On

2018-10-18