Incidental Mutation 'R0882:Slc25a20'
ID 80651
Institutional Source Beutler Lab
Gene Symbol Slc25a20
Ensembl Gene ENSMUSG00000032602
Gene Name solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20
Synonyms Cact, mCAC, 1110007P09Rik
MMRRC Submission 039049-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0882 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108539335-108561841 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108559189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 185 (M185K)
Ref Sequence ENSEMBL: ENSMUSP00000035222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035222]
AlphaFold Q9Z2Z6
Predicted Effect possibly damaging
Transcript: ENSMUST00000035222
AA Change: M185K

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035222
Gene: ENSMUSG00000032602
AA Change: M185K

DomainStartEndE-ValueType
Pfam:Mito_carr 6 104 4.9e-25 PFAM
Pfam:Mito_carr 106 201 5.6e-27 PFAM
Pfam:Mito_carr 205 297 7.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195260
Meta Mutation Damage Score 0.6237 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Adh1 A T 3: 137,992,558 (GRCm39) I225F possibly damaging Het
Agap2 A G 10: 126,923,319 (GRCm39) K691E unknown Het
Alcam T C 16: 52,073,573 (GRCm39) D564G possibly damaging Het
Apbb2 T A 5: 66,557,598 (GRCm39) T289S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cep68 T C 11: 20,189,393 (GRCm39) I540V probably benign Het
Ctla4 T C 1: 60,948,397 (GRCm39) V23A probably benign Het
Dnah7b T A 1: 46,379,292 (GRCm39) D3675E probably benign Het
Fam209 G T 2: 172,314,555 (GRCm39) V15F probably benign Het
Fat3 A G 9: 15,942,664 (GRCm39) V1236A possibly damaging Het
Gabbr2 A G 4: 46,718,904 (GRCm39) I38T probably damaging Het
Gdpd4 T C 7: 97,615,505 (GRCm39) I110T probably damaging Het
Gm4841 C T 18: 60,402,852 (GRCm39) A414T possibly damaging Het
Gtf3c4 A T 2: 28,724,782 (GRCm39) Y176N probably damaging Het
H2bc18 G A 3: 96,177,060 (GRCm39) probably null Het
Igsf9b T C 9: 27,230,612 (GRCm39) Y264H probably damaging Het
Itih4 A T 14: 30,614,231 (GRCm39) N394Y probably damaging Het
Kmt2c T C 5: 25,500,605 (GRCm39) T3815A possibly damaging Het
Lrwd1 T C 5: 136,152,254 (GRCm39) probably null Het
Mc3r A G 2: 172,091,711 (GRCm39) K311R probably benign Het
Myb T C 10: 21,032,259 (GRCm39) T41A possibly damaging Het
Nfix T C 8: 85,454,554 (GRCm39) D201G probably damaging Het
Nos1 T C 5: 118,085,512 (GRCm39) V1280A probably damaging Het
Or51a5 A C 7: 102,771,782 (GRCm39) S66A probably benign Het
Or8a1b T C 9: 37,623,168 (GRCm39) M136V probably benign Het
Pcdh15 A G 10: 74,178,488 (GRCm39) T582A probably damaging Het
Pcdhb12 C A 18: 37,570,375 (GRCm39) A507E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pkp2 C A 16: 16,087,575 (GRCm39) A753E probably damaging Het
Plekha3 G A 2: 76,513,142 (GRCm39) V76I possibly damaging Het
Pnpla6 T C 8: 3,567,081 (GRCm39) L33P probably damaging Het
Pot1b C T 17: 55,973,400 (GRCm39) probably benign Het
Prr5l T C 2: 101,588,886 (GRCm39) E88G possibly damaging Het
Prss57 G A 10: 79,621,699 (GRCm39) H97Y probably damaging Het
Rttn C T 18: 88,991,813 (GRCm39) Q131* probably null Het
Scaf11 G T 15: 96,316,176 (GRCm39) S1129R possibly damaging Het
Sorbs3 T A 14: 70,445,021 (GRCm39) E19V probably damaging Het
Srgap2 A T 1: 131,217,253 (GRCm39) C1020S probably benign Het
Thoc2l T C 5: 104,666,875 (GRCm39) S466P probably benign Het
Tmem109 T C 19: 10,849,205 (GRCm39) R217G possibly damaging Het
Trio A T 15: 27,732,980 (GRCm39) I2967N probably damaging Het
Vars2 T C 17: 35,968,191 (GRCm39) E899G probably benign Het
Vmn2r109 A G 17: 20,774,842 (GRCm39) probably benign Het
Vps53 A G 11: 75,973,485 (GRCm39) F170L probably damaging Het
Zc2hc1a G A 3: 7,591,422 (GRCm39) S149N possibly damaging Het
Zfp820 A G 17: 22,042,817 (GRCm39) probably benign Het
Zhx3 A C 2: 160,622,629 (GRCm39) F513V probably damaging Het
Other mutations in Slc25a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Slc25a20 APN 9 108,559,198 (GRCm39) missense possibly damaging 0.86
IGL02496:Slc25a20 APN 9 108,559,599 (GRCm39) missense probably damaging 1.00
R1294:Slc25a20 UTSW 9 108,554,838 (GRCm39) missense probably benign 0.14
R1881:Slc25a20 UTSW 9 108,557,408 (GRCm39) splice site probably null
R4936:Slc25a20 UTSW 9 108,559,191 (GRCm39) missense probably damaging 1.00
R7298:Slc25a20 UTSW 9 108,539,343 (GRCm39) start gained probably benign
R7347:Slc25a20 UTSW 9 108,559,657 (GRCm39) critical splice donor site probably null
R7400:Slc25a20 UTSW 9 108,559,172 (GRCm39) missense possibly damaging 0.78
R7631:Slc25a20 UTSW 9 108,539,491 (GRCm39) missense probably benign 0.03
R9139:Slc25a20 UTSW 9 108,557,398 (GRCm39) missense probably benign 0.24
R9603:Slc25a20 UTSW 9 108,549,675 (GRCm39) missense probably benign 0.20
Predicted Primers
Posted On 2013-11-07