Incidental Mutation 'IGL01829:Slc37a1'
ID154726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc37a1
Ensembl Gene ENSMUSG00000024036
Gene Namesolute carrier family 37 (glycerol-3-phosphate transporter), member 1
SynonymsG3PP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01829
Quality Score
Status
Chromosome17
Chromosomal Location31295483-31350696 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31322206 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 224 (I224T)
Ref Sequence ENSEMBL: ENSMUSP00000126111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165149] [ENSMUST00000171233]
Predicted Effect possibly damaging
Transcript: ENSMUST00000165149
AA Change: I224T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: I224T

DomainStartEndE-ValueType
Pfam:MFS_1 21 452 6.7e-33 PFAM
transmembrane domain 462 484 N/A INTRINSIC
transmembrane domain 489 511 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171233
AA Change: I224T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: I224T

DomainStartEndE-ValueType
Pfam:MFS_1 22 452 3.5e-33 PFAM
transmembrane domain 462 484 N/A INTRINSIC
transmembrane domain 489 511 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bod1l A G 5: 41,820,468 S1168P probably benign Het
Csn1s2a A T 5: 87,786,710 T173S unknown Het
Dchs1 T A 7: 105,755,397 D2646V probably damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah7a G T 1: 53,618,068 R850S possibly damaging Het
Dock2 T C 11: 34,705,841 D396G probably damaging Het
E2f7 A G 10: 110,779,094 Y553C probably benign Het
Elf2 A G 3: 51,308,100 M63T probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Kcnk13 T A 12: 100,060,998 probably benign Het
Nr1h5 T A 3: 102,949,079 I295L probably benign Het
Olfr1413 A T 1: 92,573,329 I53F probably benign Het
Ptprk A G 10: 28,573,387 H986R probably damaging Het
Rufy1 T A 11: 50,416,244 R300* probably null Het
Sfxn4 C A 19: 60,858,734 S37I probably damaging Het
Slc12a9 A T 5: 137,327,365 probably benign Het
Slc6a6 T C 6: 91,735,189 F233S probably damaging Het
Stard9 A G 2: 120,706,446 K4233E possibly damaging Het
Trp53bp1 A T 2: 121,215,896 M1141K probably benign Het
Ttn T C 2: 76,781,667 D17297G probably damaging Het
Vmn1r12 T C 6: 57,159,664 Y205H probably damaging Het
Vmn1r77 A G 7: 12,041,431 K45E probably damaging Het
Vmn2r-ps159 T C 4: 156,333,319 noncoding transcript Het
Vps13a T C 19: 16,619,443 T3104A probably benign Het
Other mutations in Slc37a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Slc37a1 APN 17 31319148 nonsense probably null
IGL02429:Slc37a1 APN 17 31300509 critical splice donor site probably null
IGL02716:Slc37a1 APN 17 31328161 missense possibly damaging 0.57
gluttony UTSW 17 31338990 missense possibly damaging 0.95
R1019:Slc37a1 UTSW 17 31315594 missense probably benign 0.00
R1675:Slc37a1 UTSW 17 31338074 missense probably damaging 0.99
R1768:Slc37a1 UTSW 17 31333678 missense possibly damaging 0.53
R1822:Slc37a1 UTSW 17 31300431 start gained probably benign
R3685:Slc37a1 UTSW 17 31325693 missense probably benign 0.36
R4826:Slc37a1 UTSW 17 31322173 missense probably damaging 1.00
R4989:Slc37a1 UTSW 17 31322146 missense probably damaging 0.98
R5326:Slc37a1 UTSW 17 31340262 missense probably damaging 1.00
R5542:Slc37a1 UTSW 17 31340262 missense probably damaging 1.00
R5588:Slc37a1 UTSW 17 31346457 missense probably damaging 1.00
R5609:Slc37a1 UTSW 17 31338008 missense possibly damaging 0.67
R6479:Slc37a1 UTSW 17 31338990 missense possibly damaging 0.95
R7409:Slc37a1 UTSW 17 31340263 missense probably damaging 1.00
R7743:Slc37a1 UTSW 17 31316185 missense probably damaging 1.00
R8140:Slc37a1 UTSW 17 31322259 missense probably damaging 0.99
Posted On2014-02-04