Incidental Mutation 'IGL01987:Slc25a32'
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ID181950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a32
Ensembl Gene ENSMUSG00000022299
Gene Namesolute carrier family 25, member 32
Synonyms2610043O12Rik, Mftc
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL01987
Quality Score
Status
Chromosome15
Chromosomal Location39091231-39112716 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 39097607 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 227 (T227I)
Ref Sequence ENSEMBL: ENSMUSP00000154227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022908] [ENSMUST00000227323] [ENSMUST00000228160]
Predicted Effect probably damaging
Transcript: ENSMUST00000022908
AA Change: T242I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: T242I

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:Mito_carr 20 113 4.5e-24 PFAM
Pfam:Mito_carr 116 214 1e-24 PFAM
Pfam:Mito_carr 220 311 3.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227323
AA Change: T227I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228160
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 P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Slc25a32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Slc25a32 APN 15 39102071 intron probably benign
IGL02719:Slc25a32 APN 15 39099905 missense probably benign 0.31
IGL03387:Slc25a32 APN 15 39105964 missense probably benign 0.33
IGL03408:Slc25a32 APN 15 39100030 missense probably benign 0.08
R0103:Slc25a32 UTSW 15 39099897 nonsense probably null
R0103:Slc25a32 UTSW 15 39099897 nonsense probably null
R0511:Slc25a32 UTSW 15 39097545 missense probably benign
R1346:Slc25a32 UTSW 15 39100016 missense probably benign 0.03
R2519:Slc25a32 UTSW 15 39096055 missense probably damaging 1.00
R4987:Slc25a32 UTSW 15 39100019 missense possibly damaging 0.96
R5586:Slc25a32 UTSW 15 39099913 missense possibly damaging 0.87
R5718:Slc25a32 UTSW 15 39097562 missense probably benign 0.18
R6932:Slc25a32 UTSW 15 39097589 missense possibly damaging 0.80
R7021:Slc25a32 UTSW 15 39099926 missense probably benign
R7270:Slc25a32 UTSW 15 39098235 missense probably damaging 0.99
X0002:Slc25a32 UTSW 15 39102078 splice site probably null
Posted On2014-05-07