Incidental Mutation 'IGL02203:Slc25a38'
ID284416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a38
Ensembl Gene ENSMUSG00000032519
Gene Namesolute carrier family 25, member 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02203
Quality Score
Status
Chromosome9
Chromosomal Location120110374-120124504 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120120812 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 198 (Y198C)
Ref Sequence ENSEMBL: ENSMUSP00000121747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035106] [ENSMUST00000135514] [ENSMUST00000144768] [ENSMUST00000150093]
Predicted Effect probably damaging
Transcript: ENSMUST00000035106
AA Change: Y219C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: Y219C

DomainStartEndE-ValueType
Pfam:Mito_carr 44 139 4.1e-23 PFAM
Pfam:Mito_carr 139 229 2.5e-19 PFAM
Pfam:Mito_carr 237 326 4.8e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135514
AA Change: Y198C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: Y198C

DomainStartEndE-ValueType
Pfam:Mito_carr 22 118 2.8e-23 PFAM
Pfam:Mito_carr 118 208 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137522
Predicted Effect probably benign
Transcript: ENSMUST00000144768
SMART Domains Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 1.2e-16 PFAM
low complexity region 163 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150093
SMART Domains Protein: ENSMUSP00000123357
Gene: ENSMUSG00000032519

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 5.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154969
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 is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 122,179,808 D1095A probably benign Het
Acmsd T C 1: 127,738,605 probably benign Het
Ap5m1 G A 14: 49,080,258 G324D probably damaging Het
Api5 T G 2: 94,425,074 N252T probably benign Het
Arhgap45 T A 10: 80,027,553 C743* probably null Het
Clpb A G 7: 101,779,337 T435A probably damaging Het
Csmd3 C T 15: 47,849,677 probably null Het
Cyp3a11 T G 5: 145,869,166 R130S probably damaging Het
Dennd4c A G 4: 86,802,936 T612A probably benign Het
Eng A G 2: 32,671,486 I170V probably benign Het
Fam69a A G 5: 107,911,781 L57S probably benign Het
Gfra2 T A 14: 70,967,084 M74K possibly damaging Het
Gpr137c A G 14: 45,277,487 T268A possibly damaging Het
Gramd3 T C 18: 56,478,954 probably null Het
Il13ra2 A G X: 147,383,673 L367P possibly damaging Het
Insr T C 8: 3,155,817 H1324R probably benign Het
Lgi3 A G 14: 70,534,518 E215G possibly damaging Het
Mst1r A G 9: 107,907,869 Y242C probably damaging Het
Mst1r A G 9: 107,913,149 T654A possibly damaging Het
Myo16 A T 8: 10,570,132 Q1561L possibly damaging Het
Obscn A C 11: 59,082,308 M2222R probably damaging Het
Olfr1020 T G 2: 85,850,088 F212C probably damaging Het
Olfr1337 A T 4: 118,782,429 V52D possibly damaging Het
Olfr62 A T 4: 118,666,182 I222F probably benign Het
Olfr705 A G 7: 106,714,630 I17T probably benign Het
Olfr914 A G 9: 38,607,423 probably benign Het
Plch1 G A 3: 63,698,739 P1239L possibly damaging Het
Ptprm A T 17: 66,953,123 I499K probably damaging Het
Rabep2 G T 7: 126,440,394 R331L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sema7a A G 9: 57,957,606 T397A probably benign Het
Sftpc A C 14: 70,521,869 M124R probably damaging Het
Sppl2a A T 2: 126,904,941 M489K possibly damaging Het
Swt1 T A 1: 151,370,626 K849N probably benign Het
Ttc3 T A 16: 94,418,598 probably benign Het
Vmn2r63 A G 7: 42,904,008 V608A probably benign Het
Vwf A G 6: 125,642,406 Y1349C probably damaging Het
Ybx3 A G 6: 131,368,408 V265A probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Slc25a38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Slc25a38 APN 9 120120307 nonsense probably null
IGL01012:Slc25a38 APN 9 120116494 splice site probably benign
IGL02084:Slc25a38 APN 9 120120446 splice site probably benign
IGL02281:Slc25a38 APN 9 120117532 missense probably damaging 1.00
R0482:Slc25a38 UTSW 9 120120833 missense probably benign 0.01
R0532:Slc25a38 UTSW 9 120120706 missense probably damaging 1.00
R0550:Slc25a38 UTSW 9 120123643 missense probably benign 0.00
R1523:Slc25a38 UTSW 9 120123703 missense possibly damaging 0.94
R4908:Slc25a38 UTSW 9 120120288 missense probably damaging 1.00
R5171:Slc25a38 UTSW 9 120122115 missense probably benign 0.01
R5976:Slc25a38 UTSW 9 120116547 missense probably damaging 0.98
R6092:Slc25a38 UTSW 9 120116592 missense probably damaging 1.00
R7379:Slc25a38 UTSW 9 120120836 missense probably benign 0.01
R8007:Slc25a38 UTSW 9 120122142 missense possibly damaging 0.88
Posted On2015-04-16