Incidental Mutation 'IGL01594:Slc37a1'
ID91681
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 #IGL01594
Quality Score
Status
Chromosome17
Chromosomal Location31295483-31350696 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 31319148 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 148 (Y148*)
Ref Sequence ENSEMBL: ENSMUSP00000126111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165149] [ENSMUST00000171233]
Predicted Effect probably null
Transcript: ENSMUST00000165149
AA Change: Y148*
SMART Domains Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: Y148*

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 probably null
Transcript: ENSMUST00000171233
AA Change: Y148*
SMART Domains Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: Y148*

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Acss1 A T 2: 150,621,530 V618E probably damaging Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
D030068K23Rik T A 8: 109,251,377 Q52L unknown Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Gtdc1 A G 2: 44,591,879 probably null Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Lrrn1 T C 6: 107,567,493 I84T probably damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Mpzl1 T C 1: 165,593,592 D266G probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Pabpc4l A T 3: 46,447,146 V21D probably damaging Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in Slc37a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01829:Slc37a1 APN 17 31322206 missense possibly damaging 0.72
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 On2013-12-09