Incidental Mutation 'IGL02935:Mtch1'
ID 364265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtch1
Ensembl Gene ENSMUSG00000024012
Gene Name mitochondrial carrier 1
Synonyms 2310034O17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02935
Quality Score
Status
Chromosome 17
Chromosomal Location 29551046-29566908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29555184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 288 (D288G)
Ref Sequence ENSEMBL: ENSMUSP00000093077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095427] [ENSMUST00000118366] [ENSMUST00000153658]
AlphaFold Q791T5
Predicted Effect probably benign
Transcript: ENSMUST00000095427
AA Change: D288G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012
AA Change: D288G

DomainStartEndE-ValueType
low complexity region 9 64 N/A INTRINSIC
Pfam:Mito_carr 191 282 4e-10 PFAM
transmembrane domain 315 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118366
SMART Domains Protein: ENSMUSP00000113021
Gene: ENSMUSG00000024012

DomainStartEndE-ValueType
low complexity region 9 64 N/A INTRINSIC
Pfam:Mito_carr 191 282 3.7e-10 PFAM
transmembrane domain 298 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151739
Predicted Effect probably benign
Transcript: ENSMUST00000153658
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 member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,709,675 (GRCm39) P13L possibly damaging Het
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Fuca2 G A 10: 13,383,063 (GRCm39) E344K probably null Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mlec C A 5: 115,295,873 (GRCm39) R74L probably benign Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or2bd2 G A 7: 6,443,753 (GRCm39) V285M possibly damaging Het
Or51b4 T C 7: 103,530,871 (GRCm39) N193S probably damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Ythdc2 C T 18: 44,988,112 (GRCm39) R656C probably damaging Het
Other mutations in Mtch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Mtch1 APN 17 29,559,430 (GRCm39) missense probably damaging 1.00
IGL01104:Mtch1 APN 17 29,555,196 (GRCm39) missense probably damaging 0.99
IGL02728:Mtch1 APN 17 29,557,716 (GRCm39) missense possibly damaging 0.55
R0070:Mtch1 UTSW 17 29,559,033 (GRCm39) splice site probably benign
R0070:Mtch1 UTSW 17 29,559,033 (GRCm39) splice site probably benign
R0243:Mtch1 UTSW 17 29,559,080 (GRCm39) missense possibly damaging 0.78
R1136:Mtch1 UTSW 17 29,552,744 (GRCm39) splice site probably null
R1829:Mtch1 UTSW 17 29,557,750 (GRCm39) missense probably damaging 1.00
R2156:Mtch1 UTSW 17 29,561,841 (GRCm39) missense probably damaging 1.00
R3845:Mtch1 UTSW 17 29,561,806 (GRCm39) missense probably damaging 1.00
R4849:Mtch1 UTSW 17 29,566,565 (GRCm39) missense probably benign 0.00
R5436:Mtch1 UTSW 17 29,566,564 (GRCm39) missense probably benign 0.44
R6234:Mtch1 UTSW 17 29,559,485 (GRCm39) splice site probably null
R6983:Mtch1 UTSW 17 29,557,750 (GRCm39) missense probably damaging 1.00
R7465:Mtch1 UTSW 17 29,551,698 (GRCm39) missense probably benign 0.00
R7939:Mtch1 UTSW 17 29,559,806 (GRCm39) missense probably damaging 1.00
R9244:Mtch1 UTSW 17 29,566,626 (GRCm39) missense unknown
Posted On 2015-12-18