Incidental Mutation 'IGL01788:Slc13a1'
ID155133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc13a1
Ensembl Gene ENSMUSG00000029700
Gene Namesolute carrier family 13 (sodium/sulfate symporters), member 1
SynonymsNaSi-1, Nas1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01788
Quality Score
Status
Chromosome6
Chromosomal Location24088283-24168092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 24134372 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 171 (T171P)
Ref Sequence ENSEMBL: ENSMUSP00000031713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031713]
Predicted Effect probably damaging
Transcript: ENSMUST00000031713
AA Change: T171P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: T171P

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 5 578 9.6e-101 PFAM
Pfam:CitMHS 45 168 3.9e-14 PFAM
Pfam:CitMHS 226 521 3.9e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176692
Coding Region Coverage
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 is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 51,091,715 noncoding transcript Het
Acp6 A G 3: 97,165,882 T80A probably damaging Het
Adamtsl5 T C 10: 80,344,923 T102A probably benign Het
Adcy6 C A 15: 98,596,519 E812* probably null Het
Apol6 G A 15: 77,051,016 V162I possibly damaging Het
Atp6v1h T A 1: 5,149,983 M396K possibly damaging Het
B3gnt8 A G 7: 25,629,188 T348A probably damaging Het
Cgnl1 A G 9: 71,655,390 V869A probably benign Het
Dcaf5 A T 12: 80,348,324 I357N probably damaging Het
Dennd4a A G 9: 64,842,621 I165V probably benign Het
Dlgap2 T A 8: 14,843,631 I982K probably benign Het
Dopey1 A T 9: 86,531,719 H1891L probably benign Het
Fhad1 A C 4: 141,932,802 S65R probably benign Het
Fn1 A G 1: 71,613,837 I1331T probably damaging Het
Fto A T 8: 91,409,731 Y211F probably benign Het
Gm3278 A C 14: 4,893,332 R60S probably benign Het
Ifna9 A G 4: 88,591,860 S176P probably damaging Het
Klk1 T C 7: 44,228,983 I189T probably benign Het
Mcph1 G A 8: 18,632,403 G519R probably damaging Het
Mcph1 G A 8: 18,632,404 G519E probably damaging Het
N4bp1 A T 8: 86,860,996 V438E probably benign Het
Ncapg T A 5: 45,671,081 V58E probably damaging Het
Nid2 T A 14: 19,807,979 S1054T probably damaging Het
Nlrp4a A T 7: 26,454,067 Y681F probably benign Het
Olfr1308 T C 2: 111,961,007 D22G probably benign Het
Olfr1442 G A 19: 12,675,078 R291K probably damaging Het
Olfr603 C A 7: 103,383,563 M146I probably benign Het
Olfr726 A G 14: 50,084,502 Y60H probably damaging Het
Papln A T 12: 83,775,462 T364S probably benign Het
Pcdh18 C A 3: 49,755,922 E315* probably null Het
Pmel G A 10: 128,717,832 R445Q probably damaging Het
Ppp1r12b C T 1: 134,893,507 V182I possibly damaging Het
Ptprn2 A G 12: 116,900,987 T541A probably damaging Het
Rbl1 A T 2: 157,163,656 N813K probably benign Het
Sash1 C A 10: 8,733,646 R713L probably benign Het
Slc18b1 G T 10: 23,826,001 E407D probably damaging Het
Slc2a6 G A 2: 27,024,215 Q297* probably null Het
Vmn1r209 T C 13: 22,805,662 H286R probably damaging Het
Vmn1r28 C A 6: 58,265,537 H122N probably benign Het
Wfs1 A G 5: 36,968,636 Y304H probably benign Het
Zfp512b A G 2: 181,588,763 S445P possibly damaging Het
Other mutations in Slc13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc13a1 APN 6 24118017 missense possibly damaging 0.55
IGL01096:Slc13a1 APN 6 24104077 missense probably damaging 0.97
IGL02028:Slc13a1 APN 6 24118031 missense probably benign 0.00
IGL02238:Slc13a1 APN 6 24103483 missense probably benign 0.00
IGL02525:Slc13a1 APN 6 24137136 missense probably damaging 1.00
IGL02741:Slc13a1 APN 6 24150708 critical splice donor site probably null
IGL02894:Slc13a1 APN 6 24137042 splice site probably benign
IGL03086:Slc13a1 APN 6 24118003 missense probably damaging 1.00
munchkin UTSW 6 24090796 nonsense probably null
R0294:Slc13a1 UTSW 6 24090780 missense possibly damaging 0.79
R0419:Slc13a1 UTSW 6 24100293 missense probably damaging 0.99
R1249:Slc13a1 UTSW 6 24133650 missense probably benign 0.01
R1401:Slc13a1 UTSW 6 24118083 splice site probably null
R1868:Slc13a1 UTSW 6 24118000 missense probably damaging 1.00
R2191:Slc13a1 UTSW 6 24134397 missense possibly damaging 0.71
R2940:Slc13a1 UTSW 6 24090780 missense possibly damaging 0.79
R3740:Slc13a1 UTSW 6 24134477 missense probably damaging 1.00
R4326:Slc13a1 UTSW 6 24103479 missense probably benign 0.00
R4327:Slc13a1 UTSW 6 24103479 missense probably benign 0.00
R4389:Slc13a1 UTSW 6 24092398 splice site probably null
R4520:Slc13a1 UTSW 6 24134513 missense probably benign 0.18
R4771:Slc13a1 UTSW 6 24100340 nonsense probably null
R4883:Slc13a1 UTSW 6 24134357 missense probably benign 0.01
R5133:Slc13a1 UTSW 6 24103429 missense possibly damaging 0.95
R5213:Slc13a1 UTSW 6 24108159 missense probably damaging 1.00
R5310:Slc13a1 UTSW 6 24134374 missense probably benign 0.02
R5504:Slc13a1 UTSW 6 24150744 missense possibly damaging 0.83
R5971:Slc13a1 UTSW 6 24133657 missense probably benign 0.00
R6214:Slc13a1 UTSW 6 24090796 nonsense probably null
R6215:Slc13a1 UTSW 6 24090796 nonsense probably null
R6526:Slc13a1 UTSW 6 24097612 missense probably damaging 0.97
R6562:Slc13a1 UTSW 6 24150793 missense probably benign 0.35
R6573:Slc13a1 UTSW 6 24137095 missense probably damaging 1.00
R6902:Slc13a1 UTSW 6 24097666 missense possibly damaging 0.65
R7184:Slc13a1 UTSW 6 24092312 missense probably damaging 0.99
R7536:Slc13a1 UTSW 6 24100331 missense probably damaging 1.00
R7918:Slc13a1 UTSW 6 24118066 missense probably benign 0.35
U15987:Slc13a1 UTSW 6 24133657 missense probably benign 0.00
Z1177:Slc13a1 UTSW 6 24133695 missense probably benign 0.00
Posted On2014-02-04