Incidental Mutation 'IGL01104:Mtch1'
ID 53067
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: 0.094) question?
Stock # IGL01104
Quality Score
Status
Chromosome 17
Chromosomal Location 29551046-29566908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29555196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 284 (D284G)
Ref Sequence ENSEMBL: ENSMUSP00000113021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095427] [ENSMUST00000118366] [ENSMUST00000153658]
AlphaFold Q791T5
Predicted Effect probably damaging
Transcript: ENSMUST00000095427
AA Change: D284G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012
AA Change: D284G

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 damaging
Transcript: ENSMUST00000118366
AA Change: D284G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113021
Gene: ENSMUSG00000024012
AA Change: D284G

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,653,797 (GRCm39) probably benign Het
AU015836 A T X: 93,015,493 (GRCm39) D15V probably damaging Het
Capns2 G T 8: 93,628,383 (GRCm39) D91Y probably damaging Het
Chd6 C T 2: 160,803,847 (GRCm39) R2071Q probably damaging Het
Col4a4 G T 1: 82,444,266 (GRCm39) P1334T unknown Het
Dusp12 T G 1: 170,702,042 (GRCm39) H319P probably damaging Het
Emilin3 A T 2: 160,751,703 (GRCm39) V112E probably damaging Het
Eya3 T A 4: 132,439,240 (GRCm39) F455L probably damaging Het
F10 G A 8: 13,105,686 (GRCm39) G417D probably damaging Het
Fat3 A C 9: 16,287,024 (GRCm39) V833G possibly damaging Het
Fat3 A T 9: 15,909,756 (GRCm39) L2082H probably damaging Het
Golga5 T A 12: 102,460,073 (GRCm39) M667K probably damaging Het
Gpr50 T A X: 70,710,833 (GRCm39) L305H probably damaging Het
Grhl1 A G 12: 24,634,453 (GRCm39) K217R probably damaging Het
Itgb2 A G 10: 77,383,028 (GRCm39) probably null Het
Jag1 T A 2: 136,926,298 (GRCm39) I1035L probably benign Het
Kdm2a A G 19: 4,406,766 (GRCm39) probably benign Het
Lima1 A C 15: 99,741,581 (GRCm39) S32A probably damaging Het
Lmod1 C T 1: 135,292,522 (GRCm39) T459I probably damaging Het
Mtus2 C T 5: 148,013,819 (GRCm39) probably null Het
Or7c19 A G 8: 85,957,813 (GRCm39) T230A probably benign Het
Ppl T C 16: 4,912,355 (GRCm39) Q742R probably benign Het
Reln T C 5: 22,191,965 (GRCm39) R1492G probably damaging Het
Rsad1 T C 11: 94,434,466 (GRCm39) T323A possibly damaging Het
Slc22a8 A G 19: 8,585,329 (GRCm39) T293A possibly damaging Het
Smc4 T C 3: 68,934,917 (GRCm39) I677T possibly damaging Het
Ufd1 T C 16: 18,633,587 (GRCm39) F4S probably damaging Het
Usp9x T C X: 13,027,142 (GRCm39) V16A probably damaging Het
Vmn2r31 A T 7: 7,399,565 (GRCm39) C131S probably damaging Het
Vmn2r65 A G 7: 84,589,996 (GRCm39) I640T possibly damaging Het
Vwf T C 6: 125,660,519 (GRCm39) C2676R probably damaging Het
Other mutations in Mtch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Mtch1 APN 17 29,559,430 (GRCm39) missense probably damaging 1.00
IGL02728:Mtch1 APN 17 29,557,716 (GRCm39) missense possibly damaging 0.55
IGL02935:Mtch1 APN 17 29,555,184 (GRCm39) missense probably benign
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 2013-06-21