Incidental Mutation 'IGL03408:Slc25a32'
ID421658
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: 0.313) question?
Stock #IGL03408
Quality Score
Status
Chromosome15
Chromosomal Location39091231-39112716 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 39100030 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 132 (A132V)
Ref Sequence ENSEMBL: ENSMUSP00000154227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022908] [ENSMUST00000227323] [ENSMUST00000228160]
Predicted Effect probably benign
Transcript: ENSMUST00000022908
AA Change: A132V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299
AA Change: A132V

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 benign
Transcript: ENSMUST00000227323
AA Change: A132V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Slc25a32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Slc25a32 APN 15 39102071 intron probably benign
IGL01987:Slc25a32 APN 15 39097607 missense probably damaging 1.00
IGL02719:Slc25a32 APN 15 39099905 missense probably benign 0.31
IGL03387:Slc25a32 APN 15 39105964 missense probably benign 0.33
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 On2016-08-02