Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01292:Slc25a15'

72946

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc25a15

Ensembl Gene

ENSMUSG00000031482

Gene Name

solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15

Synonyms

Ornt1, D630044L02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01292

Quality Score

Status

Chromosome

Chromosomal Location

22865567-22888613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22880052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 31 (D31G)

Ref Sequence

ENSEMBL: ENSMUSP00000033871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033871]

AlphaFold

Q9WVD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033871
AA Change: D31G

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033871
Gene: ENSMUSG00000031482
AA Change: D31G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	5	96	8.5e-19	PFAM
Pfam:Mito_carr	102	202	7.1e-22	PFAM
Pfam:Mito_carr	205	298	1.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210020

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 is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,831 (GRCm39)	S1045G	probably benign	Het
Aak1	T	C	6: 86,926,520 (GRCm39)		probably benign	Het
Car15	A	G	16: 17,653,393 (GRCm39)	F258S	probably damaging	Het
Cpd	A	G	11: 76,737,071 (GRCm39)	I241T	possibly damaging	Het
Dchs1	T	C	7: 105,410,098 (GRCm39)	D1758G	probably damaging	Het
Dnaaf11	A	T	15: 66,353,082 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,120,988 (GRCm39)	N75I	possibly damaging	Het
Eps8l1	T	C	7: 4,481,919 (GRCm39)		probably benign	Het
Gdpd4	T	C	7: 97,664,161 (GRCm39)		probably benign	Het
Igbp1b	C	T	6: 138,634,533 (GRCm39)	E304K	probably benign	Het
Ighv1-63	A	G	12: 115,459,478 (GRCm39)	S40P	probably damaging	Het
Intu	T	C	3: 40,618,696 (GRCm39)	V234A	probably benign	Het
Mars1	A	T	10: 127,141,387 (GRCm39)	I334N	probably damaging	Het
Morc2a	C	A	11: 3,638,175 (GRCm39)	A967D	probably damaging	Het
Mtrf1l	A	T	10: 5,764,090 (GRCm39)	M291K	probably benign	Het
Muc19	A	G	15: 91,778,470 (GRCm39)		noncoding transcript	Het
Myl3	A	T	9: 110,597,045 (GRCm39)	D135V	probably damaging	Het
Myt1	T	A	2: 181,446,805 (GRCm39)	L537M	probably damaging	Het
Ndst4	A	G	3: 125,232,403 (GRCm39)	D324G	probably damaging	Het
Plce1	T	A	19: 38,640,229 (GRCm39)		probably benign	Het
Prkab1	A	T	5: 116,162,169 (GRCm39)	F47Y	probably damaging	Het
Prkag2	C	T	5: 25,226,963 (GRCm39)	S98N	probably benign	Het
Rasgef1a	T	A	6: 118,057,344 (GRCm39)	V15D	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,051 (GRCm39)	C67*	probably null	Het
Slc4a11	C	T	2: 130,532,752 (GRCm39)		probably null	Het
Snx15	A	T	19: 6,169,915 (GRCm39)	M331K	probably benign	Het
Tsks	T	C	7: 44,601,982 (GRCm39)	Y224H	probably damaging	Het
Ufd1	T	C	16: 18,639,864 (GRCm39)	S123P	probably damaging	Het
Xpnpep3	T	G	15: 81,311,699 (GRCm39)	V135G	probably damaging	Het

Other mutations in Slc25a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03046:Slc25a15	APN	8	22,885,726 (GRCm39)	splice site	probably benign
R1921:Slc25a15	UTSW	8	22,885,777 (GRCm39)	missense	probably benign
R2092:Slc25a15	UTSW	8	22,870,950 (GRCm39)	missense	probably damaging	1.00
R4762:Slc25a15	UTSW	8	22,873,248 (GRCm39)	missense	probably damaging	0.97
R5451:Slc25a15	UTSW	8	22,879,983 (GRCm39)	missense	probably benign	0.04
R9012:Slc25a15	UTSW	8	22,867,878 (GRCm39)	missense	probably benign	0.26

Posted On

2013-10-07