Incidental Mutation 'R6234:Mtch1'
ID 504837
Institutional Source Beutler Lab
Gene Symbol Mtch1
Ensembl Gene ENSMUSG00000024012
Gene Name mitochondrial carrier 1
Synonyms 2310034O17Rik
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29551046-29566908 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 29559485 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 null
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 null
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 null
Transcript: ENSMUST00000153658
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Cd34 A T 1: 194,630,308 (GRCm39) I81F probably damaging Het
Chmp1b T A 18: 67,339,169 (GRCm39) *200R probably null Het
Clic6 T C 16: 92,296,110 (GRCm39) S257P probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gabrg1 A T 5: 70,999,484 (GRCm39) L22I probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Nfkb1 C T 3: 135,332,471 (GRCm39) V95I possibly damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Sap30 A G 8: 57,938,152 (GRCm39) V155A probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null 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
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
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'- TATCCGGCTAAGACTCCTTCTG -3'
(R):5'- TGATACCACTTCCTGTGCAG -3'

Sequencing Primer
(F):5'- AAGACTCCTTCTGCCCAGG -3'
(R):5'- CAAGCCTGGTGGTTATGA -3'
Posted On 2018-02-28