Incidental Mutation 'IGL02447:Slc37a3'
ID294021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc37a3
Ensembl Gene ENSMUSG00000029924
Gene Namesolute carrier family 37 (glycerol-3-phosphate transporter), member 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02447
Quality Score
Status
Chromosome6
Chromosomal Location39334773-39377675 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39337195 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 494 (E494D)
Ref Sequence ENSEMBL: ENSMUSP00000087709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090243] [ENSMUST00000200961] [ENSMUST00000201448]
Predicted Effect probably benign
Transcript: ENSMUST00000090243
AA Change: E494D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: E494D

DomainStartEndE-ValueType
Pfam:MFS_1 23 420 3.8e-37 PFAM
Pfam:Sugar_tr 27 262 2.5e-8 PFAM
transmembrane domain 423 445 N/A INTRINSIC
transmembrane domain 455 477 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200961
SMART Domains Protein: ENSMUSP00000144562
Gene: ENSMUSG00000029924

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201448
SMART Domains Protein: ENSMUSP00000144059
Gene: ENSMUSG00000029924

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
transmembrane domain 82 104 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202714
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,100,459 S73C probably damaging Het
Abhd18 T A 3: 40,933,773 F351I probably benign Het
Agfg1 T A 1: 82,882,223 probably benign Het
Antxr2 C T 5: 98,030,408 V48I possibly damaging Het
Bcl9l T C 9: 44,507,334 M823T probably benign Het
Card11 G A 5: 140,906,924 H129Y possibly damaging Het
Ccr1 A T 9: 123,963,716 V259E probably benign Het
Cdk13 G T 13: 17,772,416 P586T probably benign Het
Cep295 C T 9: 15,332,511 V1502I probably damaging Het
Csnk1g3 T C 18: 53,895,870 S32P probably benign Het
Dpysl4 G A 7: 139,098,600 R492Q probably damaging Het
Duox2 A G 2: 122,297,468 L78P probably damaging Het
Gm436 T A 4: 144,674,699 I72F probably benign Het
Gm7361 T C 5: 26,257,855 S32P probably benign Het
Grip1 T A 10: 120,020,071 V234E probably damaging Het
Herc1 A T 9: 66,497,328 I4477L possibly damaging Het
Il18r1 G A 1: 40,498,337 probably null Het
Itpkb A G 1: 180,421,354 probably benign Het
Jag2 T C 12: 112,912,612 Y799C probably damaging Het
Jak2 A G 19: 29,299,614 K857R probably damaging Het
Kbtbd12 A T 6: 88,618,694 S51R probably damaging Het
Kcnc2 T G 10: 112,455,946 D346E probably damaging Het
Kcnh1 T A 1: 192,224,916 M92K possibly damaging Het
Kcnk1 A G 8: 126,025,080 I142V probably damaging Het
Lsm11 T C 11: 45,937,364 N196D probably damaging Het
Mpeg1 G T 19: 12,462,792 C538F probably damaging Het
Nrap G A 19: 56,345,519 Q969* probably null Het
Nup205 T C 6: 35,227,576 probably null Het
Pdcd5 A G 7: 35,642,685 V166A possibly damaging Het
Plcb2 A T 2: 118,713,155 I745N probably damaging Het
Ptprt T C 2: 162,278,107 T147A probably benign Het
Rbp3 A T 14: 33,954,503 D136V probably damaging Het
Ripor3 G T 2: 167,992,830 T247N probably damaging Het
Sgcd A C 11: 46,979,255 probably benign Het
Slc26a6 T C 9: 108,857,052 Y211H probably benign Het
Smc5 T C 19: 23,257,492 E326G probably benign Het
Tctn2 T C 5: 124,615,253 noncoding transcript Het
Tk2 T A 8: 104,241,138 N93I probably damaging Het
Tmed6 A G 8: 107,065,608 F2L possibly damaging Het
Tox3 A G 8: 90,258,153 probably benign Het
Tspan9 T C 6: 127,964,438 Y237C probably benign Het
Ubqlnl A G 7: 104,148,649 L547P probably damaging Het
Uggt1 T C 1: 36,150,142 D1421G probably damaging Het
Unc80 T A 1: 66,503,544 I319K possibly damaging Het
Vac14 A G 8: 110,653,628 D441G probably benign Het
Vamp8 C T 6: 72,388,333 V5M probably damaging Het
Yeats2 T A 16: 20,193,679 H560Q probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp773 G T 7: 7,136,656 probably benign Het
Other mutations in Slc37a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Slc37a3 APN 6 39337262 missense probably damaging 1.00
IGL03017:Slc37a3 APN 6 39349381 missense probably benign 0.13
IGL03142:Slc37a3 APN 6 39359985 splice site probably null
IGL03164:Slc37a3 APN 6 39345303 missense probably benign 0.02
R0240:Slc37a3 UTSW 6 39337238 missense probably benign 0.02
R0551:Slc37a3 UTSW 6 39352754 unclassified probably benign
R1453:Slc37a3 UTSW 6 39366943 missense probably damaging 1.00
R1866:Slc37a3 UTSW 6 39359968 missense probably damaging 1.00
R2242:Slc37a3 UTSW 6 39338805 missense probably benign 0.00
R4410:Slc37a3 UTSW 6 39338813 missense probably benign
R4784:Slc37a3 UTSW 6 39337223 missense probably benign 0.12
R4983:Slc37a3 UTSW 6 39352717 nonsense probably null
R5543:Slc37a3 UTSW 6 39355026 missense probably damaging 1.00
R6309:Slc37a3 UTSW 6 39357460 makesense probably null
R7849:Slc37a3 UTSW 6 39364583 missense possibly damaging 0.74
R7872:Slc37a3 UTSW 6 39347310 missense probably damaging 1.00
R7932:Slc37a3 UTSW 6 39364583 missense possibly damaging 0.74
R7955:Slc37a3 UTSW 6 39347310 missense probably damaging 1.00
R8062:Slc37a3 UTSW 6 39364596 missense probably damaging 1.00
Z1177:Slc37a3 UTSW 6 39350076 missense possibly damaging 0.92
Z1177:Slc37a3 UTSW 6 39355011 missense probably damaging 1.00
Posted On2015-04-16