Incidental Mutation 'R0070:Mtch1'
ID 16301
Institutional Source Beutler Lab
Gene Symbol Mtch1
Ensembl Gene ENSMUSG00000024012
Gene Name mitochondrial carrier 1
Synonyms 2310034O17Rik
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0070 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 29551046-29566908 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 29559033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095427] [ENSMUST00000118366] [ENSMUST00000153658]
AlphaFold Q791T5
Predicted Effect probably benign
Transcript: ENSMUST00000095427
SMART Domains Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012

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: ENSMUST00000132753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151739
Predicted Effect probably benign
Transcript: ENSMUST00000153658
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 88.0%
  • 3x: 83.9%
  • 10x: 69.3%
  • 20x: 41.9%
Validation Efficiency 88% (67/76)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm2027 T A 12: 44,269,145 (GRCm39) probably benign Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Hykk T A 9: 54,829,632 (GRCm39) probably benign Het
Kansl1l T C 1: 66,840,262 (GRCm39) D346G probably damaging Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Nav2 A G 7: 49,220,462 (GRCm39) E1669G probably damaging Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Or5p51 T G 7: 107,444,124 (GRCm39) D272A probably damaging Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Pi4k2b A C 5: 52,914,260 (GRCm39) D309A probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Taok1 T A 11: 77,444,543 (GRCm39) M511L probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem147 T C 7: 30,427,526 (GRCm39) Y97C probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zscan20 C T 4: 128,479,675 (GRCm39) V939I possibly 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
IGL02935:Mtch1 APN 17 29,555,184 (GRCm39) missense 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 2013-01-20