Incidental Mutation 'IGL01829:Slc37a1'
ID 154726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc37a1
Ensembl Gene ENSMUSG00000024036
Gene Name solute carrier family 37 (glycerol-3-phosphate transporter), member 1
Synonyms G3PP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01829
Quality Score
Status
Chromosome 17
Chromosomal Location 31505766-31569713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31541180 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R070
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: 41,977,811 (GRCm39) S1168P probably benign Het
Csn1s2a A T 5: 87,934,569 (GRCm39) T173S unknown Het
Dchs1 T A 7: 105,404,604 (GRCm39) D2646V probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dnah7a G T 1: 53,657,227 (GRCm39) R850S possibly damaging Het
Dock2 T C 11: 34,596,668 (GRCm39) D396G probably damaging Het
E2f7 A G 10: 110,614,955 (GRCm39) Y553C probably benign Het
Elf2 A G 3: 51,215,521 (GRCm39) M63T probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Kcnk13 T A 12: 100,027,257 (GRCm39) probably benign Het
Nr1h5 T A 3: 102,856,395 (GRCm39) I295L probably benign Het
Or9s23 A T 1: 92,501,051 (GRCm39) I53F probably benign Het
Ptprk A G 10: 28,449,383 (GRCm39) H986R probably damaging Het
Rufy1 T A 11: 50,307,071 (GRCm39) R300* probably null Het
Sfxn4 C A 19: 60,847,172 (GRCm39) S37I probably damaging Het
Slc12a9 A T 5: 137,325,627 (GRCm39) probably benign Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Stard9 A G 2: 120,536,927 (GRCm39) K4233E possibly damaging Het
Trp53bp1 A T 2: 121,046,377 (GRCm39) M1141K probably benign Het
Ttn T C 2: 76,612,011 (GRCm39) D17297G probably damaging Het
Vmn1r12 T C 6: 57,136,649 (GRCm39) Y205H probably damaging Het
Vmn1r77 A G 7: 11,775,358 (GRCm39) K45E probably damaging Het
Vmn2r129 T C 4: 156,685,614 (GRCm39) noncoding transcript Het
Vps13a T C 19: 16,596,807 (GRCm39) T3104A probably benign Het
Other mutations in Slc37a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Slc37a1 APN 17 31,538,122 (GRCm39) nonsense probably null
IGL02429:Slc37a1 APN 17 31,519,483 (GRCm39) critical splice donor site probably null
IGL02716:Slc37a1 APN 17 31,547,135 (GRCm39) missense possibly damaging 0.57
gluttony UTSW 17 31,557,964 (GRCm39) missense possibly damaging 0.95
R1019:Slc37a1 UTSW 17 31,534,568 (GRCm39) missense probably benign 0.00
R1675:Slc37a1 UTSW 17 31,557,048 (GRCm39) missense probably damaging 0.99
R1768:Slc37a1 UTSW 17 31,552,652 (GRCm39) missense possibly damaging 0.53
R1822:Slc37a1 UTSW 17 31,519,405 (GRCm39) start gained probably benign
R3685:Slc37a1 UTSW 17 31,544,667 (GRCm39) missense probably benign 0.36
R4826:Slc37a1 UTSW 17 31,541,147 (GRCm39) missense probably damaging 1.00
R4989:Slc37a1 UTSW 17 31,541,120 (GRCm39) missense probably damaging 0.98
R5326:Slc37a1 UTSW 17 31,559,236 (GRCm39) missense probably damaging 1.00
R5542:Slc37a1 UTSW 17 31,559,236 (GRCm39) missense probably damaging 1.00
R5588:Slc37a1 UTSW 17 31,565,431 (GRCm39) missense probably damaging 1.00
R5609:Slc37a1 UTSW 17 31,556,982 (GRCm39) missense possibly damaging 0.67
R6479:Slc37a1 UTSW 17 31,557,964 (GRCm39) missense possibly damaging 0.95
R7409:Slc37a1 UTSW 17 31,559,237 (GRCm39) missense probably damaging 1.00
R7743:Slc37a1 UTSW 17 31,535,159 (GRCm39) missense probably damaging 1.00
R8140:Slc37a1 UTSW 17 31,541,233 (GRCm39) missense probably damaging 0.99
R9061:Slc37a1 UTSW 17 31,556,365 (GRCm39) missense probably damaging 1.00
R9115:Slc37a1 UTSW 17 31,534,486 (GRCm39) missense probably damaging 1.00
R9264:Slc37a1 UTSW 17 31,519,459 (GRCm39) missense probably benign
R9323:Slc37a1 UTSW 17 31,552,643 (GRCm39) missense probably damaging 1.00
R9786:Slc37a1 UTSW 17 31,556,965 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04