Incidental Mutation 'R1051:Slc25a40'
ID 93933
Institutional Source Beutler Lab
Gene Symbol Slc25a40
Ensembl Gene ENSMUSG00000054099
Gene Name solute carrier family 25, member 40
Synonyms B230315F11Rik
MMRRC Submission 039141-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1051 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 8472850-8504797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8480450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 67 (M67L)
Ref Sequence ENSEMBL: ENSMUSP00000143045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727] [ENSMUST00000198792]
AlphaFold Q8BGP6
Predicted Effect probably benign
Transcript: ENSMUST00000066921
AA Change: M67L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: M67L

DomainStartEndE-ValueType
Pfam:Mito_carr 13 137 1.5e-24 PFAM
Pfam:Mito_carr 139 229 4.6e-20 PFAM
Pfam:Mito_carr 232 333 3.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170496
AA Change: M67L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: M67L

DomainStartEndE-ValueType
Pfam:Mito_carr 13 137 5.8e-24 PFAM
Pfam:Mito_carr 141 229 1.4e-17 PFAM
Pfam:Mito_carr 232 333 2.4e-22 PFAM
Predicted Effect silent
Transcript: ENSMUST00000196727
SMART Domains Protein: ENSMUSP00000142511
Gene: ENSMUSG00000054099

DomainStartEndE-ValueType
Pfam:Mito_carr 13 80 1.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197006
Predicted Effect probably benign
Transcript: ENSMUST00000198792
AA Change: M67L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143045
Gene: ENSMUSG00000054099
AA Change: M67L

DomainStartEndE-ValueType
Pfam:Mito_carr 13 129 2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199817
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and overtly normal in a battery of physiological, metabolic, and behavioral assays. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,764,143 (GRCm39) S929P probably damaging Het
Acot1 T C 12: 84,056,378 (GRCm39) V32A probably damaging Het
Ank1 G A 8: 23,583,956 (GRCm39) G353D probably damaging Het
Baiap2l1 T A 5: 144,222,943 (GRCm39) H97L probably damaging Het
Casp8ap2 C A 4: 32,640,790 (GRCm39) P615T probably benign Het
Chrng A T 1: 87,136,785 (GRCm39) D218V possibly damaging Het
Col5a3 C A 9: 20,686,531 (GRCm39) V1365L unknown Het
Ddx49 A G 8: 70,747,335 (GRCm39) probably null Het
Dnaaf2 T C 12: 69,244,569 (GRCm39) D164G probably damaging Het
Eefsec A T 6: 88,274,829 (GRCm39) D378E probably benign Het
Farsb T C 1: 78,420,287 (GRCm39) I535V possibly damaging Het
Fat1 T G 8: 45,497,543 (GRCm39) S4343A probably damaging Het
Fbn2 T C 18: 58,145,425 (GRCm39) Y2737C probably damaging Het
Gtf3c1 T C 7: 125,306,821 (GRCm39) E10G probably damaging Het
Has1 T C 17: 18,068,541 (GRCm39) D271G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il12rb2 A G 6: 67,333,719 (GRCm39) F187L probably benign Het
Kdsr G A 1: 106,675,310 (GRCm39) Q109* probably null Het
Klb G A 5: 65,536,670 (GRCm39) A667T probably damaging Het
Krba1 C T 6: 48,390,332 (GRCm39) R704C possibly damaging Het
Lenep A T 3: 89,309,780 (GRCm39) I56N possibly damaging Het
Lipc T C 9: 70,709,398 (GRCm39) I450V probably benign Het
Myh6 T C 14: 55,186,984 (GRCm39) N1329S probably benign Het
Myo5c T A 9: 75,198,165 (GRCm39) M1330K probably benign Het
Myo9b A G 8: 71,808,466 (GRCm39) E1691G probably damaging Het
Ninl C G 2: 150,812,046 (GRCm39) E240Q probably damaging Het
Nlgn1 T C 3: 25,966,869 (GRCm39) S195G probably damaging Het
Nlrp4c A G 7: 6,068,942 (GRCm39) E281G probably benign Het
Olfm2 T C 9: 20,579,759 (GRCm39) T331A probably damaging Het
Or1o1 A T 17: 37,717,341 (GRCm39) I301F possibly damaging Het
Or2d2 T A 7: 106,728,123 (GRCm39) D159V possibly damaging Het
Or8b9 T C 9: 37,766,657 (GRCm39) I181T probably damaging Het
Plekhh2 T C 17: 84,829,255 (GRCm39) probably null Het
Pramel4 A G 4: 143,795,068 (GRCm39) E485G possibly damaging Het
Prss12 A G 3: 123,279,174 (GRCm39) D417G probably null Het
Rhpn1 A T 15: 75,584,241 (GRCm39) Y456F probably damaging Het
Rnpc3 C T 3: 113,423,595 (GRCm39) E37K possibly damaging Het
Rp1l1 T G 14: 64,269,984 (GRCm39) L1857V probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sepsecs C T 5: 52,822,698 (GRCm39) A18T probably damaging Het
Sgms1 T A 19: 32,137,439 (GRCm39) L42F probably damaging Het
Sipa1l1 A T 12: 82,496,119 (GRCm39) D1720V possibly damaging Het
Slc13a3 A T 2: 165,250,740 (GRCm39) probably null Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Spesp1 T C 9: 62,179,924 (GRCm39) D328G possibly damaging Het
Sspo T A 6: 48,468,389 (GRCm39) C4363* probably null Het
Tbc1d8 C T 1: 39,420,534 (GRCm39) W666* probably null Het
Tubgcp2 T C 7: 139,578,809 (GRCm39) D721G probably benign Het
Vps54 CTTAAT CT 11: 21,228,001 (GRCm39) probably null Het
Wsb1 T C 11: 79,137,059 (GRCm39) S113G probably damaging Het
Zfp382 T C 7: 29,833,435 (GRCm39) F362S probably damaging Het
Zfp553 G T 7: 126,835,977 (GRCm39) G511* probably null Het
Zfp568 C T 7: 29,721,954 (GRCm39) Q299* probably null Het
Zfp688 G A 7: 127,018,397 (GRCm39) P243S probably damaging Het
Other mutations in Slc25a40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Slc25a40 APN 5 8,503,298 (GRCm39) makesense probably null
IGL01418:Slc25a40 APN 5 8,503,298 (GRCm39) makesense probably null
IGL02604:Slc25a40 APN 5 8,503,219 (GRCm39) missense probably benign
IGL03371:Slc25a40 APN 5 8,477,442 (GRCm39) missense probably benign 0.01
PIT4494001:Slc25a40 UTSW 5 8,490,737 (GRCm39) missense probably damaging 1.00
R0443:Slc25a40 UTSW 5 8,497,348 (GRCm39) missense probably benign 0.05
R1707:Slc25a40 UTSW 5 8,490,793 (GRCm39) splice site probably null
R1861:Slc25a40 UTSW 5 8,492,431 (GRCm39) splice site probably null
R2117:Slc25a40 UTSW 5 8,480,417 (GRCm39) missense probably damaging 1.00
R2135:Slc25a40 UTSW 5 8,477,489 (GRCm39) missense possibly damaging 0.78
R2567:Slc25a40 UTSW 5 8,480,459 (GRCm39) missense probably damaging 1.00
R2908:Slc25a40 UTSW 5 8,477,505 (GRCm39) missense probably damaging 1.00
R5140:Slc25a40 UTSW 5 8,480,486 (GRCm39) missense probably damaging 0.96
R5269:Slc25a40 UTSW 5 8,497,409 (GRCm39) critical splice donor site probably null
R6665:Slc25a40 UTSW 5 8,502,788 (GRCm39) missense probably benign 0.01
R7884:Slc25a40 UTSW 5 8,492,509 (GRCm39) missense probably damaging 1.00
R7996:Slc25a40 UTSW 5 8,493,653 (GRCm39) missense probably damaging 1.00
R9100:Slc25a40 UTSW 5 8,499,613 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2014-01-05