Incidental Mutation 'IGL02496:Slc25a20'
ID 295825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a20
Ensembl Gene ENSMUSG00000032602
Gene Name solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20
Synonyms 1110007P09Rik, Cact, mCAC
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02496
Quality Score
Status
Chromosome 9
Chromosomal Location 108662088-108684641 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108682400 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 221 (I221N)
Ref Sequence ENSEMBL: ENSMUSP00000035222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035222]
AlphaFold Q9Z2Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000035222
AA Change: I221N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035222
Gene: ENSMUSG00000032602
AA Change: I221N

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
Coding Region Coverage
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Csn1s1 C T 5: 87,677,594 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hfm1 T C 5: 106,901,761 S445G probably benign Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Mmp20 A G 9: 7,654,041 R321G probably damaging Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pcdhb6 A G 18: 37,335,454 D476G probably damaging Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr2 A G 9: 92,289,663 I103V probably benign Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc22a23 T A 13: 34,344,485 I105F possibly damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Slc25a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Slc25a20 APN 9 108681999 missense possibly damaging 0.86
R0882:Slc25a20 UTSW 9 108681990 missense possibly damaging 0.52
R1294:Slc25a20 UTSW 9 108677639 missense probably benign 0.14
R1881:Slc25a20 UTSW 9 108680209 splice site probably null
R4936:Slc25a20 UTSW 9 108681992 missense probably damaging 1.00
R7298:Slc25a20 UTSW 9 108662144 start gained probably benign
R7347:Slc25a20 UTSW 9 108682458 critical splice donor site probably null
R7400:Slc25a20 UTSW 9 108681973 missense possibly damaging 0.78
R7631:Slc25a20 UTSW 9 108662292 missense probably benign 0.03
R9139:Slc25a20 UTSW 9 108680199 missense probably benign 0.24
R9603:Slc25a20 UTSW 9 108672476 missense probably benign 0.20
Posted On 2015-04-16