Mutagenetix > Incidental Mutation

Incidental Mutation 'R0541:Oxa1l'

49935

Institutional Source

Beutler Lab

Gene Symbol

Oxa1l

Ensembl Gene

ENSMUSG00000000959

Gene Name

oxidase assembly 1-like

Synonyms

1810020M02Rik

MMRRC Submission

038733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54598298-54607130 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54605646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 375 (E375G)

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

possibly damaging
Transcript: ENSMUST00000000985
AA Change: E375G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000985
Gene: ENSMUSG00000000959
AA Change: E375G

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

noncoding transcript
Transcript: ENSMUST00000196882

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

noncoding transcript
Transcript: ENSMUST00000198107

Predicted Effect

probably benign
Transcript: ENSMUST00000226753

Predicted Effect

unknown
Transcript: ENSMUST00000228719
AA Change: E87G

Meta Mutation Damage Score

0.3912

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,872 (GRCm39)	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,478,227 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,843,185 (GRCm39)	A1220V	probably benign	Het
Adamts19	G	A	18: 59,060,372 (GRCm39)		probably null	Het
Agbl1	G	A	7: 76,058,993 (GRCm39)	V194M	probably benign	Het
Arhgap20	G	T	9: 51,760,963 (GRCm39)	S902I	probably damaging	Het
Atp11b	T	G	3: 35,861,093 (GRCm39)	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,535,430 (GRCm39)		probably benign	Het
C2cd2	T	C	16: 97,723,496 (GRCm39)	E7G	possibly damaging	Het
Camta2	A	G	11: 70,572,447 (GRCm39)	L259P	probably benign	Het
Ccni	T	C	5: 93,335,563 (GRCm39)	N192D	probably benign	Het
Cgnl1	A	G	9: 71,558,535 (GRCm39)	I946T	possibly damaging	Het
Chil3	T	C	3: 106,068,548 (GRCm39)		probably null	Het
Cntn5	A	G	9: 9,673,407 (GRCm39)		probably benign	Het
Cpn2	C	T	16: 30,078,169 (GRCm39)	G511S	possibly damaging	Het
Dagla	C	A	19: 10,232,170 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,392,086 (GRCm39)	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,474 (GRCm39)	N1069K	probably benign	Het
Edc4	A	G	8: 106,616,060 (GRCm39)	T812A	probably benign	Het
Eml4	A	G	17: 83,747,471 (GRCm39)	I238V	probably benign	Het
Ep400	T	C	5: 110,852,882 (GRCm39)	T1288A	unknown	Het
Fastkd1	A	C	2: 69,532,750 (GRCm39)	L539R	probably damaging	Het
Fbln7	G	A	2: 128,719,454 (GRCm39)		probably benign	Het
Fbxo39	A	G	11: 72,209,297 (GRCm39)	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267 (GRCm39)	K135R	probably damaging	Het
Gm3646	T	A	1: 39,843,483 (GRCm39)	T8S	unknown	Het
Gtsf1	A	T	15: 103,329,619 (GRCm39)	V100E	possibly damaging	Het
Helz2	A	G	2: 180,876,618 (GRCm39)	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,084,401 (GRCm39)		probably benign	Het
Ip6k2	T	G	9: 108,681,826 (GRCm39)	D252E	probably damaging	Het
Iqck	T	A	7: 118,514,817 (GRCm39)	L232Q	probably damaging	Het
Kif18b	A	G	11: 102,806,001 (GRCm39)	V186A	probably damaging	Het
Klhl6	T	A	16: 19,768,197 (GRCm39)		probably null	Het
Lao1	C	T	4: 118,820,999 (GRCm39)	T75I	probably benign	Het
Lyst	T	C	13: 13,855,878 (GRCm39)	F2400L	probably benign	Het
Map3k9	A	T	12: 81,780,997 (GRCm39)	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,762,767 (GRCm39)	H229N	probably damaging	Het
Myh7	T	G	14: 55,212,158 (GRCm39)	I1529L	probably benign	Het
Nckap5	G	T	1: 126,623,459 (GRCm39)	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,373,033 (GRCm39)	F123I	probably damaging	Het
Nelfb	A	T	2: 25,093,992 (GRCm39)	D385E	probably benign	Het
Obscn	C	T	11: 58,972,810 (GRCm39)	V2288M	probably damaging	Het
Or2f1b	A	G	6: 42,739,154 (GRCm39)	H56R	probably damaging	Het
Or4d6	C	T	19: 12,086,884 (GRCm39)	V9M	possibly damaging	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Otog	T	A	7: 45,918,673 (GRCm39)		probably benign	Het
Pan2	T	A	10: 128,144,091 (GRCm39)	I129K	possibly damaging	Het
Parp1	A	G	1: 180,426,616 (GRCm39)	I919M	probably benign	Het
Pnpla7	T	C	2: 24,885,305 (GRCm39)	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,473,928 (GRCm39)	F169S	probably damaging	Het
Rab10	T	C	12: 3,314,743 (GRCm39)	D45G	probably damaging	Het
Reln	A	G	5: 22,185,107 (GRCm39)	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Spidr	T	A	16: 15,733,229 (GRCm39)	I589F	probably damaging	Het
Stmn4	A	C	14: 66,595,388 (GRCm39)	I165L	probably benign	Het
Stx5a	T	C	19: 8,727,301 (GRCm39)	M177T	probably damaging	Het
Tll1	T	C	8: 64,491,486 (GRCm39)		probably null	Het
Tmem192	T	C	8: 65,416,912 (GRCm39)	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,785,892 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,446,663 (GRCm39)		probably benign	Het
Vezf1	A	G	11: 87,972,403 (GRCm39)	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,816,786 (GRCm39)	F265S	probably damaging	Het
Vps13a	A	G	19: 16,681,941 (GRCm39)	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,477,773 (GRCm39)	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,079,423 (GRCm39)	T845A	possibly 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
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
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'- GTGTCAGCGAATATCTGTCACCCC -3'
(R):5'- AGAACACGTCAACCGAGTGTGTC -3'

Sequencing Primer
(F):5'- CCCGAGGCTGAAGCAAG -3'
(R):5'- AACCGAGTGTGTCTTGCC -3'

Posted On

2013-06-12