Incidental Mutation 'IGL01726:Slc25a32'
ID105303
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: 0.353) question?
Stock #IGL01726
Quality Score
Status
Chromosome15
Chromosomal Location39091231-39112716 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 39102071 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022908] [ENSMUST00000227323] [ENSMUST00000228160]
Predicted Effect probably benign
Transcript: ENSMUST00000022908
SMART Domains Protein: ENSMUSP00000022908
Gene: ENSMUSG00000022299

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 noncoding transcript
Transcript: ENSMUST00000226144
Predicted Effect probably benign
Transcript: ENSMUST00000227323
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,730,840 probably null Het
Arpc2 A G 1: 74,248,179 T53A probably benign Het
Ccdc170 C A 10: 4,549,713 L545M probably benign Het
Ccm2l T C 2: 153,080,901 probably benign Het
Celsr1 T C 15: 85,926,190 N2166D probably benign Het
Clca4b T G 3: 144,928,342 D104A probably damaging Het
Clcnka C T 4: 141,392,740 probably null Het
Clip2 A T 5: 134,522,664 N201K probably damaging Het
Cyp1a2 G A 9: 57,682,202 L110F possibly damaging Het
Dhtkd1 T C 2: 5,942,656 T6A unknown Het
Enthd1 A C 15: 80,452,451 L594R probably damaging Het
Espnl A G 1: 91,344,904 D618G probably benign Het
Gm6096 A T 7: 34,251,479 I148F probably damaging Het
Hsf5 C T 11: 87,636,125 T541I probably benign Het
Il18r1 A G 1: 40,498,403 S443G possibly damaging Het
Il1a T C 2: 129,304,720 D151G possibly damaging Het
Ints1 A G 5: 139,768,411 probably benign Het
Kcnh1 A C 1: 192,505,856 D875A possibly damaging Het
Naip6 T A 13: 100,303,252 I336F probably benign Het
Napepld A G 5: 21,675,659 F246S possibly damaging Het
Nova1 C T 12: 46,713,497 probably null Het
Nsa2 C A 13: 97,132,017 A181S probably damaging Het
Ntn5 C A 7: 45,694,247 R337S probably damaging Het
Nynrin T C 14: 55,864,154 S427P probably benign Het
Olfr678 A G 7: 105,069,629 E54G probably damaging Het
Pcgf1 T A 6: 83,078,886 probably null Het
Pfn4 T A 12: 4,774,446 L58I probably benign Het
Plekha1 C A 7: 130,897,329 P116Q probably damaging Het
Pou5f2 T C 13: 78,025,181 S81P possibly damaging Het
Prag1 A G 8: 36,102,992 D243G probably damaging Het
Rbm26 G A 14: 105,152,507 P227L probably damaging Het
Rgl1 A T 1: 152,519,153 N756K probably damaging Het
Rhou A T 8: 123,654,141 T66S possibly damaging Het
Rspo3 A T 10: 29,504,708 D103E probably benign Het
Rundc3b T C 5: 8,520,902 K306E probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Tarsl2 A G 7: 65,682,818 T556A possibly damaging Het
Tmem266 A G 9: 55,435,202 K324E probably benign Het
Tnrc6c T C 11: 117,749,335 probably benign Het
Trappc9 A T 15: 72,946,122 S452T probably damaging Het
Tspear T A 10: 77,881,287 probably benign Het
Ttll5 T G 12: 85,918,934 I571S probably benign Het
Ttn T C 2: 76,967,089 T544A probably benign Het
Ubn1 T C 16: 5,073,470 probably null Het
Ubr2 C A 17: 46,992,981 probably benign Het
Usp21 A T 1: 171,284,001 W360R probably damaging Het
Vmn2r62 A T 7: 42,765,102 L639H probably damaging Het
Zc3h7b T A 15: 81,771,799 I116N possibly damaging Het
Zfp618 C T 4: 63,132,635 T551I probably damaging Het
Zfp804b T C 5: 7,180,707 probably benign Het
Zkscan8 T C 13: 21,520,803 H322R probably benign Het
Zwint T G 10: 72,657,187 probably null Het
Other mutations in Slc25a32
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2014-01-21