Incidental Mutation 'IGL01537:Slc25a42'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a42
Ensembl Gene ENSMUSG00000002346
Gene Namesolute carrier family 25, member 42
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01537
Quality Score
Chromosomal Location70184340-70212305 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70189442 bp
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]
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

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

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: 109,732,680 R317G probably benign Het
B130006D01Rik T A 11: 95,726,166 probably benign Het
Brinp2 T C 1: 158,246,809 T581A probably damaging Het
Cacna1b A T 2: 24,658,528 I1179N probably damaging Het
Cacnb3 A G 15: 98,643,420 D434G probably damaging Het
Cdh19 T C 1: 110,919,611 T423A possibly damaging Het
Chkb C T 15: 89,427,783 probably benign Het
Cit T C 5: 115,933,854 Y623H probably benign Het
Clstn3 G A 6: 124,431,600 R918C possibly damaging Het
Dnah2 T A 11: 69,516,080 M200L probably benign Het
Dnah9 T A 11: 65,947,680 H3097L probably benign Het
Dst T A 1: 34,275,320 L4217H probably damaging Het
Fam107b T A 2: 3,778,528 L80Q probably damaging Het
Fgfr1 T A 8: 25,555,579 C55S probably damaging Het
Igkv4-71 C A 6: 69,243,280 G78* probably null Het
Igsf10 A G 3: 59,330,031 S910P probably benign Het
Ikzf3 T C 11: 98,516,892 D41G probably damaging Het
Larp1 T A 11: 58,042,822 I358N possibly damaging Het
March5 C T 19: 37,210,668 probably benign Het
Mpdz T C 4: 81,369,658 T455A probably damaging Het
Myo1b A G 1: 51,776,351 V612A possibly damaging Het
Nipbl T C 15: 8,350,539 D923G probably benign Het
Nlrp4b T C 7: 10,714,991 F7L probably damaging Het
Npas4 T C 19: 4,987,327 N313S possibly damaging Het
Nynrin T A 14: 55,872,045 N1536K possibly damaging Het
Olfr1212 T C 2: 88,958,541 V25A probably benign Het
Olfr535 A G 7: 140,492,838 N67D probably damaging Het
Olfr975 T A 9: 39,950,625 T49S probably benign Het
Papd7 A T 13: 69,500,559 S693T probably benign Het
Pclo T C 5: 14,539,633 V649A unknown Het
Pom121 A G 5: 135,392,535 probably benign Het
Ptcd2 A T 13: 99,330,013 I224N possibly damaging Het
Rsrp1 C T 4: 134,923,979 P18L unknown Het
Sash1 A T 10: 8,729,658 N989K probably damaging Het
Scn2a T A 2: 65,715,875 H927Q probably benign Het
Selenoi G T 5: 30,256,224 V128F probably damaging Het
Spata1 A G 3: 146,489,803 probably benign Het
Sptlc3 A T 2: 139,589,695 Y379F possibly damaging Het
Tinag C T 9: 77,045,603 R33K probably benign Het
Trappc8 T C 18: 20,835,004 D1092G probably benign Het
Xntrpc A G 7: 102,073,194 E22G probably damaging Het
Zbtb7b A G 3: 89,379,971 M397T possibly damaging Het
Zgpat A G 2: 181,378,889 D285G probably benign Het
Other mutations in Slc25a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01651:Slc25a42 APN 8 70186600 missense possibly damaging 0.92
R0892:Slc25a42 UTSW 8 70191947 missense probably damaging 0.97
R1990:Slc25a42 UTSW 8 70191869 missense probably benign 0.41
R4567:Slc25a42 UTSW 8 70188854 missense probably damaging 0.99
R4717:Slc25a42 UTSW 8 70189457 missense probably damaging 1.00
R6795:Slc25a42 UTSW 8 70188390 missense probably damaging 1.00
R6927:Slc25a42 UTSW 8 70188923 missense probably damaging 0.96
R7011:Slc25a42 UTSW 8 70186702 missense probably damaging 1.00
R7220:Slc25a42 UTSW 8 70189498 missense probably damaging 1.00
Posted On2013-12-03