Incidental Mutation 'IGL03046:Slc25a15'
ID 408912
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 # IGL03046 (G1)
Quality Score
Status
Chromosome 8
Chromosomal Location 22865567-22888613 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 22885726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033871]
AlphaFold Q9WVD5
Predicted Effect probably benign
Transcript: ENSMUST00000033871
SMART Domains Protein: ENSMUSP00000033871
Gene: ENSMUSG00000031482

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: ENSMUST00000190830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210020
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (54/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,282 (GRCm39) M717K probably benign Het
Acad12 C A 5: 121,748,029 (GRCm39) V130L probably benign Het
Cdca2 T C 14: 67,937,471 (GRCm39) probably benign Het
Cfap100 T A 6: 90,389,332 (GRCm39) probably null Het
Cfap43 T A 19: 47,804,302 (GRCm39) E298V probably damaging Het
Cic C T 7: 24,990,500 (GRCm39) P1971S probably damaging Het
Cnga1 T C 5: 72,761,681 (GRCm39) D611G probably benign Het
Daglb C T 5: 143,486,948 (GRCm39) P522L probably damaging Het
Dclre1b A T 3: 103,710,597 (GRCm39) I438K probably benign Het
Ddx5 C A 11: 106,675,871 (GRCm39) R273M probably damaging Het
Eepd1 C T 9: 25,393,981 (GRCm39) L82F probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Exoc6 T C 19: 37,582,217 (GRCm39) probably null Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxs1 T C 2: 152,774,484 (GRCm39) T190A probably benign Het
Gje1 A G 10: 14,592,374 (GRCm39) L136P probably damaging Het
Hdac11 A G 6: 91,145,827 (GRCm39) T176A probably benign Het
Hhip C A 8: 80,698,967 (GRCm39) V700L probably damaging Het
Hps5 T C 7: 46,426,463 (GRCm39) probably benign Het
Itgb1bp1 T C 12: 21,329,436 (GRCm39) S13G unknown Het
Kcna1 A T 6: 126,619,148 (GRCm39) L391M possibly damaging Het
Kif1a C T 1: 93,010,128 (GRCm39) V6M probably damaging Het
Klhl6 T C 16: 19,801,639 (GRCm39) I39V probably benign Het
Lpcat4 C A 2: 112,072,334 (GRCm39) silent Het
Ltn1 A T 16: 87,202,509 (GRCm39) S1047R probably benign Het
Mdn1 A G 4: 32,694,495 (GRCm39) T1073A possibly damaging Het
Megf10 G T 18: 57,421,055 (GRCm39) A898S possibly damaging Het
Mtmr6 T C 14: 60,529,577 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,059 (GRCm39) I333M probably benign Het
Muc5ac G T 7: 141,348,950 (GRCm39) C463F probably benign Het
Mycbpap G T 11: 94,396,543 (GRCm39) T99N possibly damaging Het
Myo7a C T 7: 97,728,534 (GRCm39) C824Y probably damaging Het
N4bp2 A G 5: 65,948,303 (GRCm39) H311R probably damaging Het
Nepro T A 16: 44,552,509 (GRCm39) probably benign Het
Nop56 A T 2: 130,117,489 (GRCm39) probably benign Het
Nup210 A G 6: 90,995,978 (GRCm39) probably benign Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or7g25 T A 9: 19,160,441 (GRCm39) I85F probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pgap6 A T 17: 26,338,414 (GRCm39) probably null Het
Pkhd1 T G 1: 20,607,589 (GRCm39) D1089A possibly damaging Het
Plb1 A G 5: 32,485,756 (GRCm39) R847G probably damaging Het
Pou6f2 A G 13: 18,303,612 (GRCm39) probably benign Het
Prss43 C G 9: 110,660,049 (GRCm39) S371C probably benign Het
Ralgapa1 A T 12: 55,741,942 (GRCm39) V1322D probably damaging Het
Rrp8 A G 7: 105,384,109 (GRCm39) V131A probably benign Het
Rtp1 A T 16: 23,248,044 (GRCm39) K39M probably benign Het
Sanbr A T 11: 23,565,150 (GRCm39) L279Q possibly damaging Het
Slc1a6 A G 10: 78,636,008 (GRCm39) I358V probably benign Het
Slc43a1 G A 2: 84,684,897 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spock3 T G 8: 63,802,018 (GRCm39) probably null Het
Tbc1d7 T C 13: 43,308,162 (GRCm39) probably null Het
Tmem184c C T 8: 78,326,286 (GRCm39) W260* probably null Het
Trnau1ap A G 4: 132,039,252 (GRCm39) Y265H probably damaging Het
Usp25 T C 16: 76,871,754 (GRCm39) F363S probably damaging Het
Vcl T C 14: 21,072,085 (GRCm39) F817L possibly damaging Het
Vmn1r13 T A 6: 57,187,717 (GRCm39) M292K probably benign Het
Xpc G T 6: 91,487,463 (GRCm39) A89E probably damaging Het
Other mutations in Slc25a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Slc25a15 APN 8 22,880,052 (GRCm39) missense possibly damaging 0.54
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 2016-08-02