Incidental Mutation 'IGL01537:Slc25a42'
ID 90015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a42
Ensembl Gene ENSMUSG00000002346
Gene Name solute carrier family 25, member 42
Synonyms 2900084M01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01537
Quality Score
Status
Chromosome 8
Chromosomal Location 70636990-70664931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70642092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 117 (I117V)
Ref Sequence ENSEMBL: ENSMUSP00000105754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063788] [ENSMUST00000110127]
AlphaFold Q8R0Y8
Predicted Effect probably benign
Transcript: ENSMUST00000063788
AA Change: I117V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
AA Change: I117V

DomainStartEndE-ValueType
Pfam:Mito_carr 29 122 3.4e-23 PFAM
Pfam:Mito_carr 127 219 1.4e-26 PFAM
Pfam:Mito_carr 222 316 3.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110127
AA Change: I117V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
AA Change: I117V

DomainStartEndE-ValueType
Pfam:Mito_carr 29 122 1.6e-23 PFAM
Pfam:Mito_carr 127 219 7.2e-27 PFAM
Pfam:Mito_carr 222 317 3.3e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150706
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 encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1l T C 8: 110,459,312 (GRCm39) R317G probably benign Het
B130006D01Rik T A 11: 95,616,992 (GRCm39) probably benign Het
Brinp2 T C 1: 158,074,379 (GRCm39) T581A probably damaging Het
Cacna1b A T 2: 24,548,540 (GRCm39) I1179N probably damaging Het
Cacnb3 A G 15: 98,541,301 (GRCm39) D434G probably damaging Het
Cdh19 T C 1: 110,847,341 (GRCm39) T423A possibly damaging Het
Chkb C T 15: 89,311,986 (GRCm39) probably benign Het
Cit T C 5: 116,071,913 (GRCm39) Y623H probably benign Het
Clstn3 G A 6: 124,408,559 (GRCm39) R918C possibly damaging Het
Dnah2 T A 11: 69,406,906 (GRCm39) M200L probably benign Het
Dnah9 T A 11: 65,838,506 (GRCm39) H3097L probably benign Het
Dst T A 1: 34,314,401 (GRCm39) L4217H probably damaging Het
Fam107b T A 2: 3,779,565 (GRCm39) L80Q probably damaging Het
Fgfr1 T A 8: 26,045,595 (GRCm39) C55S probably damaging Het
Igkv4-71 C A 6: 69,220,264 (GRCm39) G78* probably null Het
Igsf10 A G 3: 59,237,452 (GRCm39) S910P probably benign Het
Ikzf3 T C 11: 98,407,718 (GRCm39) D41G probably damaging Het
Larp1 T A 11: 57,933,648 (GRCm39) I358N possibly damaging Het
Marchf5 C T 19: 37,188,067 (GRCm39) probably benign Het
Mpdz T C 4: 81,287,895 (GRCm39) T455A probably damaging Het
Myo1b A G 1: 51,815,510 (GRCm39) V612A possibly damaging Het
Nipbl T C 15: 8,380,023 (GRCm39) D923G probably benign Het
Nlrp4b T C 7: 10,448,918 (GRCm39) F7L probably damaging Het
Npas4 T C 19: 5,037,355 (GRCm39) N313S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5 T A 9: 39,861,921 (GRCm39) T49S probably benign Het
Or13a22 A G 7: 140,072,751 (GRCm39) N67D probably damaging Het
Or4c107 T C 2: 88,788,885 (GRCm39) V25A probably benign Het
Pclo T C 5: 14,589,647 (GRCm39) V649A unknown Het
Pom121 A G 5: 135,421,389 (GRCm39) probably benign Het
Ptcd2 A T 13: 99,466,521 (GRCm39) I224N possibly damaging Het
Rsrp1 C T 4: 134,651,290 (GRCm39) P18L unknown Het
Sash1 A T 10: 8,605,422 (GRCm39) N989K probably damaging Het
Scn2a T A 2: 65,546,219 (GRCm39) H927Q probably benign Het
Selenoi G T 5: 30,461,222 (GRCm39) V128F probably damaging Het
Spata1 A G 3: 146,195,558 (GRCm39) probably benign Het
Sptlc3 A T 2: 139,431,615 (GRCm39) Y379F possibly damaging Het
Tent4a A T 13: 69,648,678 (GRCm39) S693T probably benign Het
Tinag C T 9: 76,952,885 (GRCm39) R33K probably benign Het
Trappc8 T C 18: 20,968,061 (GRCm39) D1092G probably benign Het
Xntrpc A G 7: 101,722,401 (GRCm39) E22G probably damaging Het
Zbtb7b A G 3: 89,287,278 (GRCm39) M397T possibly damaging Het
Zgpat A G 2: 181,020,682 (GRCm39) D285G probably benign Het
Other mutations in Slc25a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Slc25a42 APN 8 70,639,250 (GRCm39) missense possibly damaging 0.92
R0892:Slc25a42 UTSW 8 70,644,597 (GRCm39) missense probably damaging 0.97
R1990:Slc25a42 UTSW 8 70,644,519 (GRCm39) missense probably benign 0.41
R4567:Slc25a42 UTSW 8 70,641,504 (GRCm39) missense probably damaging 0.99
R4717:Slc25a42 UTSW 8 70,642,107 (GRCm39) missense probably damaging 1.00
R6795:Slc25a42 UTSW 8 70,641,040 (GRCm39) missense probably damaging 1.00
R6927:Slc25a42 UTSW 8 70,641,573 (GRCm39) missense probably damaging 0.96
R7011:Slc25a42 UTSW 8 70,639,352 (GRCm39) missense probably damaging 1.00
R7220:Slc25a42 UTSW 8 70,642,148 (GRCm39) missense probably damaging 1.00
R8901:Slc25a42 UTSW 8 70,646,799 (GRCm39) missense probably benign
R9234:Slc25a42 UTSW 8 70,642,736 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03