Incidental Mutation 'IGL01585:Slc37a3'
ID93333
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 #IGL01585
Quality Score
Status
Chromosome6
Chromosomal Location39334773-39377675 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 39337262 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 472 (I472N)
Ref Sequence ENSEMBL: ENSMUSP00000087709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090243] [ENSMUST00000200961] [ENSMUST00000201448]
Predicted Effect probably damaging
Transcript: ENSMUST00000090243
AA Change: I472N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: I472N

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T G 7: 131,244,758 V637G probably damaging Het
Abca12 T C 1: 71,319,886 D587G probably benign Het
Adcy1 T A 11: 7,167,143 N1003K probably damaging Het
Alpk1 T C 3: 127,679,813 D847G probably benign Het
Atp5a1 T C 18: 77,781,058 V417A possibly damaging Het
Avp A C 2: 130,580,709 S159A probably benign Het
Brca2 C A 5: 150,539,516 A915D possibly damaging Het
Cdc42bpg G A 19: 6,320,432 R1185H possibly damaging Het
Clrn2 A G 5: 45,460,158 I124V probably benign Het
Cntn4 A T 6: 106,618,328 K469* probably null Het
Cxcl1 T A 5: 90,891,724 N70K probably damaging Het
Dbf4 A G 5: 8,408,492 probably null Het
Fbn1 A T 2: 125,360,110 V1281E probably damaging Het
Fgfr3 A T 5: 33,733,961 Q523L probably damaging Het
Golga5 A G 12: 102,479,695 K403R probably benign Het
Gpr22 A G 12: 31,709,337 I262T probably benign Het
Gstm3 G T 3: 107,966,158 Q166K probably benign Het
Ilf2 T A 3: 90,484,542 N183K probably damaging Het
Ip6k2 T A 9: 108,796,313 L40Q probably damaging Het
Itga8 A T 2: 12,160,312 probably benign Het
Lbr T A 1: 181,825,643 R70* probably null Het
Lilra6 T C 7: 3,914,499 T166A probably benign Het
Map3k4 T C 17: 12,248,959 K1063E probably damaging Het
Msi1 T C 5: 115,430,890 probably null Het
Pam A G 1: 97,864,472 V408A probably damaging Het
Plxna1 A G 6: 89,329,556 probably null Het
Ppp1r36 A T 12: 76,439,117 probably null Het
Prrt4 A G 6: 29,177,690 S27P probably benign Het
Psmg1 G A 16: 95,988,021 T112I possibly damaging Het
Rfx7 T G 9: 72,617,061 I511S probably benign Het
Ros1 G A 10: 52,155,102 T481M probably damaging Het
Scfd1 A G 12: 51,415,553 D397G probably damaging Het
Sel1l3 A G 5: 53,154,236 Y636H probably damaging Het
Sgms1 T G 19: 32,142,845 R220S probably damaging Het
Syne2 A G 12: 75,949,060 probably null Het
Tert T C 13: 73,634,344 V579A probably benign Het
Ush2a A T 1: 188,430,727 H1002L probably damaging Het
Other mutations in Slc37a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Slc37a3 APN 6 39337195 missense probably benign 0.00
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
Posted On2013-12-09