Incidental Mutation 'R3845:Mtch1'
ID 277352
Institutional Source Beutler Lab
Gene Symbol Mtch1
Ensembl Gene ENSMUSG00000024012
Gene Name mitochondrial carrier 1
Synonyms 2310034O17Rik
MMRRC Submission 040893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R3845 (G1)
Quality Score 205
Status Validated
Chromosome 17
Chromosomal Location 29551046-29566908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29561806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 133 (F133I)
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: F133I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093077
Gene: ENSMUSG00000024012
AA Change: F133I

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: F133I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113021
Gene: ENSMUSG00000024012
AA Change: F133I

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 damaging
Transcript: ENSMUST00000153658
AA Change: F21I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.4184 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,079,669 (GRCm39) N185S probably benign Het
Apool A T X: 111,274,155 (GRCm39) probably benign Het
Atp4a A G 7: 30,416,540 (GRCm39) N439S probably null Het
AU041133 T A 10: 81,987,152 (GRCm39) H268Q probably damaging Het
Ccdc136 C T 6: 29,417,176 (GRCm39) R666W probably benign Het
Ccdc97 T C 7: 25,414,453 (GRCm39) probably benign Het
Celf1 T C 2: 90,839,583 (GRCm39) V336A possibly damaging Het
Chd3 T C 11: 69,237,585 (GRCm39) N1870D possibly damaging Het
Col5a3 C T 9: 20,719,673 (GRCm39) D229N unknown Het
Cpn1 G T 19: 43,962,523 (GRCm39) P142Q possibly damaging Het
Cubn T C 2: 13,287,819 (GRCm39) D3420G probably damaging Het
Cyp2u1 A G 3: 131,087,135 (GRCm39) F482S possibly damaging Het
Foxo1 T A 3: 52,253,701 (GRCm39) D621E probably benign Het
Grid2 A G 6: 64,322,826 (GRCm39) M609V possibly damaging Het
Hsd17b3 A T 13: 64,236,876 (GRCm39) F23I possibly damaging Het
Kcnk10 A G 12: 98,407,003 (GRCm39) I217T probably benign Het
Mis18bp1 G A 12: 65,195,916 (GRCm39) S616L possibly damaging Het
Myh4 T A 11: 67,149,931 (GRCm39) V1830E possibly damaging Het
Nav3 T C 10: 109,689,237 (GRCm39) M347V possibly damaging Het
Nbea A G 3: 55,993,713 (GRCm39) probably benign Het
Nhej1 A T 1: 75,008,042 (GRCm39) D76E probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5m12 A C 2: 85,735,081 (GRCm39) C106G probably damaging Het
Pias3 T C 3: 96,609,526 (GRCm39) V307A probably benign Het
Pltp T A 2: 164,696,208 (GRCm39) M135L probably benign Het
Plxna2 A G 1: 194,476,098 (GRCm39) Y1106C probably damaging Het
Pramel26 T C 4: 143,538,545 (GRCm39) E142G probably damaging Het
Ptgir G A 7: 16,641,311 (GRCm39) R201H probably damaging Het
Ptk7 A T 17: 46,897,344 (GRCm39) D329E probably benign Het
Pygl T C 12: 70,245,217 (GRCm39) D411G probably benign Het
Rev1 A T 1: 38,138,069 (GRCm39) M72K probably damaging Het
Sfrp1 T C 8: 23,902,264 (GRCm39) L155P probably damaging Het
Slc5a4a A G 10: 76,024,983 (GRCm39) E620G probably damaging Het
Smarca2 A G 19: 26,698,273 (GRCm39) I1314V probably benign Het
Tas2r109 G A 6: 132,957,766 (GRCm39) L55F probably damaging Het
Tek T A 4: 94,693,109 (GRCm39) C274S probably damaging Het
Tektl1 T C 10: 78,584,532 (GRCm39) N330S probably benign Het
Tent4b A T 8: 88,977,292 (GRCm39) I322F possibly damaging Het
Tmem38b T A 4: 53,859,905 (GRCm39) D228E probably benign Het
Topbp1 T C 9: 103,187,122 (GRCm39) V109A possibly damaging Het
Trbv5 A G 6: 41,039,682 (GRCm39) I96V probably benign Het
Trim16 T G 11: 62,727,498 (GRCm39) probably benign Het
Upf3a A T 8: 13,848,238 (GRCm39) T345S probably benign Het
Usp15 A G 10: 122,955,040 (GRCm39) S913P probably damaging Het
Vmn2r124 T A 17: 18,293,953 (GRCm39) V680D possibly damaging Het
Vmn2r91 G A 17: 18,327,860 (GRCm39) V485I probably benign Het
Zdbf2 A T 1: 63,347,483 (GRCm39) H1954L 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTGCCAATAGTGAGTGTGGAG -3'
(R):5'- ACTGATAGTCCTGGGGAGATGG -3'

Sequencing Primer
(F):5'- TGGCTCAGAGGTCAAGCAC -3'
(R):5'- AGATGGGGCCAGCCATGTG -3'
Posted On 2015-04-06