Incidental Mutation 'IGL03293:Slc25a43'
ID 415974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a43
Ensembl Gene ENSMUSG00000037636
Gene Name solute carrier family 25, member 43
Synonyms LOC194744
Accession Numbers
Essential gene? Not available question?
Stock # IGL03293
Quality Score
Status
Chromosome X
Chromosomal Location 36007312-36040855 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36039252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 270 (T270A)
Ref Sequence ENSEMBL: ENSMUSP00000035392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047655]
AlphaFold A2A3V2
Predicted Effect probably benign
Transcript: ENSMUST00000047655
AA Change: T270A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035392
Gene: ENSMUSG00000037636
AA Change: T270A

DomainStartEndE-ValueType
Pfam:Mito_carr 9 101 5.4e-17 PFAM
Pfam:Mito_carr 102 195 5e-26 PFAM
Pfam:Mito_carr 197 298 4.7e-23 PFAM
low complexity region 321 334 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133699
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 encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,615,375 (GRCm39) probably null Het
Akr1c14 C T 13: 4,129,130 (GRCm39) R45* probably null Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ccdc66 T A 14: 27,212,628 (GRCm39) N565I probably damaging Het
Cerkl G T 2: 79,172,719 (GRCm39) A318E probably damaging Het
Clec4n A T 6: 123,209,105 (GRCm39) T57S probably benign Het
Cluh A G 11: 74,556,578 (GRCm39) E921G probably benign Het
Cnbd1 C T 4: 18,860,565 (GRCm39) E394K possibly damaging Het
Dmgdh G T 13: 93,843,209 (GRCm39) M348I probably benign Het
Dnajc13 G A 9: 104,051,625 (GRCm39) S1744L possibly damaging Het
Dspp A T 5: 104,325,427 (GRCm39) S597C unknown Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Eepd1 A G 9: 25,514,708 (GRCm39) H505R possibly damaging Het
Entr1 A T 2: 26,277,688 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,303 (GRCm39) T174A possibly damaging Het
Gnb1 T C 4: 155,625,004 (GRCm39) probably benign Het
Gpam A G 19: 55,059,448 (GRCm39) S800P probably benign Het
Gsr T C 8: 34,185,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,804,878 (GRCm39) K2302R probably benign Het
Hipk1 C A 3: 103,684,575 (GRCm39) A347S possibly damaging Het
Iqgap2 T C 13: 95,867,942 (GRCm39) N222S probably damaging Het
Marco T A 1: 120,422,524 (GRCm39) M46L probably benign Het
Morc2b A T 17: 33,357,337 (GRCm39) V145D probably damaging Het
Mprip C A 11: 59,586,989 (GRCm39) P54Q probably damaging Het
Ndufv2 A T 17: 66,390,444 (GRCm39) C175* probably null Het
Or13c25 A G 4: 52,910,835 (GRCm39) *320Q probably null Het
Or4p20 T C 2: 88,253,571 (GRCm39) D266G probably damaging Het
Orc3 A C 4: 34,595,210 (GRCm39) I195S probably damaging Het
Otos C A 1: 92,572,135 (GRCm39) E64* probably null Het
Plxna2 T C 1: 194,487,253 (GRCm39) S1603P probably damaging Het
Rlf A T 4: 121,005,527 (GRCm39) I1151N probably benign Het
Scaper A G 9: 55,782,107 (GRCm39) V283A probably benign Het
Slc35a5 A G 16: 44,964,144 (GRCm39) V78A probably damaging Het
Smurf1 A T 5: 144,818,609 (GRCm39) D636E probably benign Het
Tchhl1 A T 3: 93,377,582 (GRCm39) E95D probably damaging Het
Tcp10a A G 17: 7,593,891 (GRCm39) E72G possibly damaging Het
Tmem232 A G 17: 65,757,369 (GRCm39) S275P probably damaging Het
Ugt1a5 T C 1: 88,094,540 (GRCm39) F256S probably damaging Het
Ulbp3 A G 10: 3,075,699 (GRCm39) noncoding transcript Het
Vmn2r5 A G 3: 64,398,747 (GRCm39) V744A probably benign Het
Vmn2r53 A T 7: 12,332,349 (GRCm39) S433R probably benign Het
Vmn2r9 A T 5: 108,995,997 (GRCm39) I217N probably damaging Het
Wdr83 G T 8: 85,807,216 (GRCm39) A10E probably benign Het
Posted On 2016-08-02