Incidental Mutation 'IGL01096:Slc13a1'
ID51300
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 #IGL01096
Quality Score
Status
Chromosome6
Chromosomal Location24088283-24168092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 24104077 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 322 (T322K)
Ref Sequence ENSEMBL: ENSMUSP00000031713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031713]
Predicted Effect probably damaging
Transcript: ENSMUST00000031713
AA Change: T322K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: T322K

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: ENSMUST00000174594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177412
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A T 8: 95,039,593 M351L possibly damaging Het
Alk T C 17: 71,921,896 K725E possibly damaging Het
Dspp T A 5: 104,175,367 H125Q possibly damaging Het
Elmo2 A T 2: 165,296,987 probably benign Het
Erg A G 16: 95,390,053 probably benign Het
Fam20c A G 5: 138,809,155 E513G possibly damaging Het
Gatsl3 A C 11: 4,221,850 E309A probably damaging Het
Gm9839 G T 1: 32,520,836 T55N possibly damaging Het
Gpd2 A T 2: 57,338,867 M228L probably damaging Het
Hp A T 8: 109,575,401 M305K probably benign Het
Ifng T A 10: 118,445,269 probably benign Het
Igkv9-123 T C 6: 67,954,465 D39G possibly damaging Het
Melk T A 4: 44,347,262 F431I probably benign Het
Olfr1180 A G 2: 88,411,791 M289T probably damaging Het
Olfr1335 A G 4: 118,809,456 V136A probably damaging Het
Olfr536 A T 7: 140,504,184 S92T probably damaging Het
Olfr639 A C 7: 104,012,114 L196W probably damaging Het
Olfr944 G A 9: 39,218,116 G253D probably damaging Het
Pappa T C 4: 65,189,316 Y655H probably damaging Het
Prss58 A T 6: 40,895,465 I208N probably damaging Het
Ryr2 T A 13: 11,703,544 I2720F probably damaging Het
Spag17 T C 3: 100,063,375 F1292L probably benign Het
Tbx5 A G 5: 119,883,026 T366A probably benign Het
Tmeff2 G A 1: 50,930,546 probably benign Het
Tmem101 C A 11: 102,154,552 probably null Het
Tpp2 C A 1: 43,960,888 P389T probably damaging Het
Tyk2 A G 9: 21,108,863 Y1000H probably damaging Het
Ush2a C A 1: 188,678,377 N2407K probably damaging Het
Vmn1r94 C T 7: 20,167,636 V248I probably damaging Het
Vmn2r12 T A 5: 109,086,259 I696F probably damaging Het
Vmn2r83 A G 10: 79,477,828 E90G probably damaging Het
Washc5 T C 15: 59,350,211 probably benign Het
Wee2 A G 6: 40,463,253 E445G probably benign Het
Zfp518b T C 5: 38,672,788 T625A probably benign Het
Other mutations in Slc13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc13a1 APN 6 24118017 missense possibly damaging 0.55
IGL01788:Slc13a1 APN 6 24134372 missense probably damaging 0.96
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 On2013-06-21