Incidental Mutation 'R5326:Slc37a1'
ID 421996
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 042909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5326 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 31505766-31569713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31559236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 439 (T439S)
Ref Sequence ENSEMBL: ENSMUSP00000126111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165149] [ENSMUST00000171233]
AlphaFold Q8R070
Predicted Effect probably damaging
Transcript: ENSMUST00000165149
AA Change: T439S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: T439S

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 damaging
Transcript: ENSMUST00000171233
AA Change: T439S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: T439S

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,336 (GRCm39) T127A probably damaging Het
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Actl6b T C 5: 137,565,313 (GRCm39) S366P probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Adgrf5 T A 17: 43,750,965 (GRCm39) I510N probably damaging Het
Adra2a A G 19: 54,035,112 (GRCm39) Y156C probably damaging Het
Angpt4 T C 2: 151,767,464 (GRCm39) probably null Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Brd3 A G 2: 27,340,556 (GRCm39) L551P probably benign Het
Calb2 C T 8: 110,883,610 (GRCm39) G38D possibly damaging Het
Cand1 G A 10: 119,047,933 (GRCm39) A519V probably benign Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Cog6 T A 3: 52,921,237 (GRCm39) Q123L probably null Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Depdc1a T C 3: 159,232,286 (GRCm39) V679A probably damaging Het
Dyrk1a A G 16: 94,487,440 (GRCm39) D512G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Frs2 T C 10: 116,913,468 (GRCm39) S121G probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Ggt1 T C 10: 75,421,540 (GRCm39) probably null Het
Gigyf2 T C 1: 87,352,860 (GRCm39) probably benign Het
Gm10439 T G X: 148,419,159 (GRCm39) *434E probably null Het
Gm9476 T A 10: 100,142,996 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,703,127 (GRCm39) N102K possibly damaging Het
Gml T C 15: 74,688,299 (GRCm39) N56S probably damaging Het
Gpam A C 19: 55,079,597 (GRCm39) S128R probably benign Het
Gucy1b2 C T 14: 62,690,779 (GRCm39) probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hmx3 C T 7: 131,146,146 (GRCm39) Q285* probably null Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighv5-17 T C 12: 113,822,878 (GRCm39) D81G possibly damaging Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Iqcd A G 5: 120,740,440 (GRCm39) Q257R probably damaging Het
Itpk1 T C 12: 102,540,225 (GRCm39) N286S possibly damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Knop1 T C 7: 118,452,495 (GRCm39) K23E possibly damaging Het
Ksr2 T A 5: 117,846,305 (GRCm39) V724E probably damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,244,784 (GRCm39) probably null Het
Morc2b T A 17: 33,355,907 (GRCm39) T622S probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtmr2 A G 9: 13,699,943 (GRCm39) Y38C probably damaging Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nadsyn1 T A 7: 143,362,567 (GRCm39) R279W probably benign Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56b35 T A 7: 104,963,646 (GRCm39) F145Y probably damaging Het
Or7a38 G A 10: 78,753,420 (GRCm39) V249I possibly damaging Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Prkar1b T C 5: 139,113,544 (GRCm39) probably null Het
Ric8b T C 10: 84,828,076 (GRCm39) Y467H probably damaging Het
Rin1 A G 19: 5,102,652 (GRCm39) E387G probably damaging Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Seh1l C T 18: 67,908,069 (GRCm39) probably benign Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Snrnp70 GCGGTCCCGGTCCCGGTC GCGGTCCCGGTC 7: 45,026,657 (GRCm39) probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Spin1 A G 13: 51,293,563 (GRCm39) Y91C probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trim30c T A 7: 104,037,511 (GRCm39) M152L possibly damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Wdr11 T C 7: 129,226,973 (GRCm39) S812P probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zdbf2 T G 1: 63,343,570 (GRCm39) C650G possibly damaging Het
Zfp282 T A 6: 47,882,261 (GRCm39) N649K probably benign Het
Other mutations in Slc37a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Slc37a1 APN 17 31,538,122 (GRCm39) nonsense probably null
IGL01829:Slc37a1 APN 17 31,541,180 (GRCm39) missense possibly damaging 0.72
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
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
Predicted Primers PCR Primer
(F):5'- GCTTGGGGCAGCATGATAATG -3'
(R):5'- TGTTGACCACTCAGGGATAGG -3'

Sequencing Primer
(F):5'- CAGTACAGAAGCCATTTGTCCTGTG -3'
(R):5'- TGACCACTCAGGGATAGGAGTTATAG -3'
Posted On 2016-08-04