Incidental Mutation 'R5451:Slc25a15'
ID 434584
Institutional Source Beutler Lab
Gene Symbol Slc25a15
Ensembl Gene ENSMUSG00000031482
Gene Name solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15
Synonyms Ornt1, D630044L02Rik
MMRRC Submission 043016-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5451 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22865567-22888613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22879983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 54 (T54I)
Ref Sequence ENSEMBL: ENSMUSP00000033871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033871]
AlphaFold Q9WVD5
Predicted Effect probably benign
Transcript: ENSMUST00000033871
AA Change: T54I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033871
Gene: ENSMUSG00000031482
AA Change: T54I

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.2701 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,334,076 (GRCm39) F1142S possibly damaging Het
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Calhm2 T A 19: 47,121,314 (GRCm39) Y285F possibly damaging Het
Casr T C 16: 36,330,270 (GRCm39) T355A probably damaging Het
Ccnq T A 11: 78,642,115 (GRCm39) Q125L possibly damaging Het
Clca3a1 T C 3: 144,733,747 (GRCm39) Y63C probably damaging Het
Cntnap5a T C 1: 115,612,873 (GRCm39) S3P probably benign Het
Col27a1 G A 4: 63,143,476 (GRCm39) G388D probably damaging Het
Cwh43 T C 5: 73,589,256 (GRCm39) M447T probably benign Het
Dnah7b G A 1: 46,281,179 (GRCm39) G2747S possibly damaging Het
Fbxo7 A G 10: 85,864,901 (GRCm39) S51G probably benign Het
Gabbr2 T A 4: 46,684,294 (GRCm39) Y660F probably benign Het
Galnt15 A G 14: 31,751,868 (GRCm39) E140G probably benign Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gsap T A 5: 21,422,445 (GRCm39) L138Q probably damaging Het
Igflr1 A G 7: 30,265,747 (GRCm39) N57S possibly damaging Het
Ighv13-2 A G 12: 114,321,473 (GRCm39) F89L probably damaging Het
Irf2bpl A G 12: 86,928,846 (GRCm39) V609A probably benign Het
Jkampl A G 6: 73,445,850 (GRCm39) V233A probably benign Het
Lingo1 T G 9: 56,527,711 (GRCm39) I293L probably damaging Het
Lrrc14 A G 15: 76,598,173 (GRCm39) D301G probably benign Het
Lsm2 T C 17: 35,201,185 (GRCm39) probably benign Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Micall1 T A 15: 79,011,104 (GRCm39) probably null Het
Mpp7 T C 18: 7,442,855 (GRCm39) D156G probably null Het
Mybbp1a A G 11: 72,338,939 (GRCm39) D822G probably damaging Het
Naip2 A G 13: 100,325,368 (GRCm39) V180A probably benign Het
Nol10 T A 12: 17,409,103 (GRCm39) Y159* probably null Het
Nphp3 A G 9: 103,919,221 (GRCm39) T1290A probably benign Het
Or12e1 T A 2: 87,022,796 (GRCm39) V255E probably damaging Het
Or5aq1b T C 2: 86,902,341 (GRCm39) I46V probably damaging Het
Or7g20 T C 9: 18,946,787 (GRCm39) Y123H probably damaging Het
Pcsk5 T A 19: 17,440,720 (GRCm39) Y1290F possibly damaging Het
Rab42 T C 4: 132,029,827 (GRCm39) N132D probably benign Het
Rfx3 T G 19: 27,827,359 (GRCm39) T76P probably damaging Het
Rps13-ps2 G T 7: 88,180,036 (GRCm39) noncoding transcript Het
Slc12a3 A G 8: 95,083,655 (GRCm39) D894G possibly damaging Het
Slco1c1 A T 6: 141,505,604 (GRCm39) Q461L probably benign Het
Slfn5 T G 11: 82,850,912 (GRCm39) I403R probably damaging Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
Tbc1d32 T A 10: 56,071,571 (GRCm39) T318S possibly damaging Het
Tiam2 G T 17: 3,479,271 (GRCm39) R668M probably damaging Het
Tle7 A T 8: 110,836,503 (GRCm39) I160F probably damaging Het
Trgj4 G T 13: 19,526,335 (GRCm39) probably benign Het
Trim9 A G 12: 70,393,603 (GRCm39) S114P probably benign Het
Trp53i11 T C 2: 93,030,200 (GRCm39) L169P possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r190-ps A G 13: 22,328,901 (GRCm39) noncoding transcript Het
Other mutations in Slc25a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Slc25a15 APN 8 22,880,052 (GRCm39) missense possibly damaging 0.54
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
R9012:Slc25a15 UTSW 8 22,867,878 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TGTCGTTGAAGTCAAGCGTTC -3'
(R):5'- GTACTGGTTAACCACGGACAG -3'

Sequencing Primer
(F):5'- TAAGAATGAGTGCCGTGTCC -3'
(R):5'- GGTTAACCACGGACAGCAAGC -3'
Posted On 2016-10-06