Incidental Mutation 'R9264:Slc37a1'
ID 702452
Institutional Source Beutler Lab
Gene Symbol Slc37a1
Ensembl Gene ENSMUSG00000024036
Gene Name solute carrier family 37 (glycerol-3-phosphate transporter), member 1
Synonyms G3PP
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9264 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31295483-31350696 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31300485 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 12 (I12V)
Ref Sequence ENSEMBL: ENSMUSP00000128223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165149] [ENSMUST00000171233]
AlphaFold Q8R070
Predicted Effect probably benign
Transcript: ENSMUST00000165149
AA Change: I12V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: I12V

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 benign
Transcript: ENSMUST00000171233
AA Change: I12V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: I12V

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik T A 19: 11,116,466 M1L probably benign Het
Abca15 A T 7: 120,401,833 I1531L probably benign Het
Adam28 T C 14: 68,607,465 Y791C probably benign Het
Ankrd40 T A 11: 94,338,361 I262N probably damaging Het
BC067074 G A 13: 113,319,480 V687M Het
Catsperg2 A T 7: 29,698,188 N1033K possibly damaging Het
Cdh10 A T 15: 18,963,995 D81V probably damaging Het
Cep290 T C 10: 100,498,016 V310A possibly damaging Het
Cep78 T C 19: 15,974,466 Y325C probably damaging Het
Clstn3 T A 6: 124,459,768 D197V probably damaging Het
Col11a1 T C 3: 114,212,160 I1647T unknown Het
Col5a1 G A 2: 27,964,111 R569K unknown Het
Cyp4a10 T C 4: 115,524,278 S180P probably benign Het
D630045J12Rik T C 6: 38,158,238 I1336V probably benign Het
Dchs2 G A 3: 83,270,477 V946M probably damaging Het
Dnah10 A G 5: 124,736,836 R347G probably damaging Het
Dnah11 T A 12: 118,027,527 D2368V probably damaging Het
Ganab T C 19: 8,912,864 I719T possibly damaging Het
Gm10944 C A 10: 10,681,839 A11D unknown Het
Gmcl1 T C 6: 86,714,213 M267V probably benign Het
Inhbe T A 10: 127,350,558 D251V probably damaging Het
Kcnj1 G A 9: 32,396,358 R26Q probably benign Het
Lama5 A G 2: 180,196,478 probably benign Het
Lin9 T A 1: 180,667,347 D251E probably damaging Het
Magel2 T A 7: 62,378,596 I416N possibly damaging Het
Mdga2 T C 12: 66,513,283 N772S probably damaging Het
Msh3 G T 13: 92,349,304 Q171K probably benign Het
Mslnl T G 17: 25,742,532 probably benign Het
Mtpn A G 6: 35,512,241 L116P possibly damaging Het
Myh7 T C 14: 54,975,997 T1351A probably benign Het
Nectin3 A T 16: 46,454,635 I353N probably damaging Het
Nprl3 A T 11: 32,233,948 N500K probably benign Het
Nup93 T A 8: 94,292,720 I181N probably benign Het
Olfr1198 T C 2: 88,746,432 H152R probably damaging Het
Olfr362 G A 2: 37,104,789 T287I probably damaging Het
Optc T C 1: 133,905,240 I41V probably benign Het
Pcdh7 C A 5: 58,129,321 N1246K probably benign Het
Pcdhb3 T A 18: 37,302,113 D377E probably benign Het
Pnpla6 C T 8: 3,523,294 P386L probably benign Het
Polr3a T C 14: 24,470,831 T587A probably benign Het
Pramel1 T G 4: 143,398,529 L341R probably damaging Het
Rhot2 A T 17: 25,841,766 N210K probably damaging Het
Spata48 T A 11: 11,464,678 D141E Het
Sstr3 G T 15: 78,539,592 N318K probably damaging Het
Ssx2ip T C 3: 146,437,200 V511A probably benign Het
Stfa1 G A 16: 36,280,568 V57I unknown Het
Syne1 T G 10: 5,262,793 R3265S probably damaging Het
Tacc2 G T 7: 130,626,803 K1739N probably damaging Het
Tas2r143 A T 6: 42,400,739 M168L probably benign Het
Tm4sf1 A T 3: 57,294,610 probably null Het
Ttc16 A G 2: 32,763,005 I604T possibly damaging Het
Ugt1a10 T A 1: 88,055,671 W64R possibly damaging Het
Usp34 A T 11: 23,489,064 H3561L Het
Vasp C T 7: 19,259,451 V276I unknown Het
Vwa3a A G 7: 120,775,464 N333S probably benign Het
Wipf3 A G 6: 54,483,881 N105D probably benign Het
Zfp760 T C 17: 21,723,682 S613P possibly damaging Het
Other mutations in Slc37a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Slc37a1 APN 17 31319148 nonsense probably null
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
R9061:Slc37a1 UTSW 17 31337391 missense probably damaging 1.00
R9115:Slc37a1 UTSW 17 31315512 missense probably damaging 1.00
R9323:Slc37a1 UTSW 17 31333669 missense probably damaging 1.00
R9786:Slc37a1 UTSW 17 31337991 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACAGATTCTCAACGCCTC -3'
(R):5'- CTATCTGTGATGCCACCACC -3'

Sequencing Primer
(F):5'- TCAGCCCCCTGATGGAAG -3'
(R):5'- AGGACTCCTGAGGGCTG -3'
Posted On 2022-03-25