Incidental Mutation 'IGL03299:Slc17a2'
ID416192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a2
Ensembl Gene ENSMUSG00000036110
Gene Namesolute carrier family 17 (sodium phosphate), member 2
SynonymsNPT3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL03299
Quality Score
Status
Chromosome13
Chromosomal Location23806993-23825180 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 23821111 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006786] [ENSMUST00000099697]
Predicted Effect probably null
Transcript: ENSMUST00000006786
SMART Domains Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 3.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099697
SMART Domains Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 2.9e-45 PFAM
transmembrane domain 443 462 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141717
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,853 probably benign Het
Abca17 A T 17: 24,265,591 C1566S probably damaging Het
Akr1cl A T 1: 65,024,715 L105H probably damaging Het
Ano1 A G 7: 144,654,256 F256S probably damaging Het
Arfip2 C T 7: 105,637,943 R138H probably damaging Het
Cers6 T A 2: 68,861,784 M50K probably benign Het
Dnah1 G A 14: 31,315,122 Q256* probably null Het
Dync1h1 G A 12: 110,619,210 E852K possibly damaging Het
Fars2 C T 13: 36,537,410 Q443* probably null Het
Glb1l3 T C 9: 26,859,452 N106S probably damaging Het
Haus7 T C X: 73,453,064 probably null Het
Hectd1 C T 12: 51,800,888 probably benign Het
Hyal5 G T 6: 24,877,882 G326C probably damaging Het
Ibtk A T 9: 85,721,136 D605E probably benign Het
Kif26b T C 1: 178,821,560 L415P probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Muc5b A G 7: 141,841,380 D41G unknown Het
Mxra7 A G 11: 116,804,534 probably benign Het
Ncoa6 T C 2: 155,407,287 T1366A probably damaging Het
Nmd3 C T 3: 69,730,429 probably null Het
Olfr776 T C 10: 129,261,327 V122A probably benign Het
Pla2g4a T C 1: 149,851,367 N546S probably damaging Het
Prkcz T C 4: 155,286,790 T139A possibly damaging Het
Rarb T C 14: 16,434,168 K337E probably damaging Het
Rps6ka4 C T 19: 6,832,247 probably benign Het
Scamp2 A G 9: 57,577,740 probably null Het
Scn3a T A 2: 65,497,516 M877L probably benign Het
Sh3pxd2b T C 11: 32,411,448 probably benign Het
Slc22a29 C T 19: 8,162,648 probably null Het
Srbd1 A T 17: 86,120,659 I382N possibly damaging Het
Tm7sf2 T C 19: 6,062,928 I387M probably benign Het
Wfs1 C A 5: 36,968,387 E311* probably null Het
Zc3h13 G A 14: 75,293,941 R93H probably damaging Het
Other mutations in Slc17a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Slc17a2 APN 13 23819334 missense probably benign 0.13
IGL01511:Slc17a2 APN 13 23819138 critical splice donor site probably null
IGL01624:Slc17a2 APN 13 23814986 missense probably benign 0.00
IGL01839:Slc17a2 APN 13 23812685 missense possibly damaging 0.91
IGL02010:Slc17a2 APN 13 23819042 missense probably benign 0.00
R7808_slc17a2_962 UTSW 13 23819334 missense probably damaging 0.99
R0622:Slc17a2 UTSW 13 23812611 missense probably damaging 1.00
R1104:Slc17a2 UTSW 13 23819937 missense probably damaging 0.99
R1530:Slc17a2 UTSW 13 23819069 missense probably damaging 1.00
R1682:Slc17a2 UTSW 13 23812640 missense probably damaging 0.96
R2255:Slc17a2 UTSW 13 23821008 missense probably benign 0.09
R4923:Slc17a2 UTSW 13 23819095 missense probably benign 0.20
R5193:Slc17a2 UTSW 13 23819862 critical splice acceptor site probably null
R5321:Slc17a2 UTSW 13 23812631 missense possibly damaging 0.95
R5334:Slc17a2 UTSW 13 23819051 missense probably damaging 0.97
R5377:Slc17a2 UTSW 13 23812592 missense probably damaging 1.00
R6165:Slc17a2 UTSW 13 23815070 missense probably benign 0.00
R6280:Slc17a2 UTSW 13 23822394 missense probably benign
R6311:Slc17a2 UTSW 13 23815022 missense probably benign 0.40
R6323:Slc17a2 UTSW 13 23814986 missense probably benign 0.00
R6476:Slc17a2 UTSW 13 23812586 missense probably damaging 1.00
R6814:Slc17a2 UTSW 13 23822389 missense possibly damaging 0.55
R7155:Slc17a2 UTSW 13 23822407 missense probably benign 0.21
R7188:Slc17a2 UTSW 13 23822365 missense probably damaging 1.00
R7288:Slc17a2 UTSW 13 23819112 missense probably benign 0.09
R7462:Slc17a2 UTSW 13 23822418 missense probably damaging 1.00
R7808:Slc17a2 UTSW 13 23819334 missense probably damaging 0.99
R7937:Slc17a2 UTSW 13 23812665 missense probably benign
R8444:Slc17a2 UTSW 13 23819078 missense probably benign 0.00
R8447:Slc17a2 UTSW 13 23822326 missense possibly damaging 0.50
Posted On2016-08-02