Incidental Mutation 'IGL00975:Slc13a4'
ID27705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc13a4
Ensembl Gene ENSMUSG00000029843
Gene Namesolute carrier family 13 (sodium/sulfate symporters), member 4
Synonyms9630060C05Rik, SUT1, SUT-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.813) question?
Stock #IGL00975
Quality Score
Status
Chromosome6
Chromosomal Location35267957-35308131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35274975 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 461 (M461L)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
Predicted Effect probably benign
Transcript: ENSMUST00000031868
AA Change: M461L

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: M461L

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 5 609 3.2e-105 PFAM
Pfam:CitMHS 45 166 1.1e-15 PFAM
Pfam:CitMHS 251 531 8.9e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,336,465 M1L probably benign Het
Atxn7l3 A G 11: 102,294,981 S3P probably benign Het
Ccdc114 A T 7: 45,942,656 K320I probably damaging Het
Cep112 A G 11: 108,434,186 D70G probably damaging Het
Col20a1 G A 2: 180,992,478 A79T probably damaging Het
Cycs T A 6: 50,565,367 D63V probably benign Het
Dis3 A G 14: 99,079,234 V855A probably damaging Het
Dnah6 T A 6: 73,173,390 I797F possibly damaging Het
Dpagt1 T C 9: 44,332,652 probably null Het
Dst T C 1: 34,188,312 I1840T possibly damaging Het
Epb41l3 C T 17: 69,207,861 probably benign Het
Fam20c C T 5: 138,809,157 H514Y probably benign Het
Fgd6 A T 10: 94,134,076 M1196L probably damaging Het
Fmo3 T C 1: 162,964,030 D226G probably benign Het
Fsd1l T C 4: 53,682,187 L263P probably damaging Het
Gaa C A 11: 119,274,683 T333K possibly damaging Het
Gm10530 T C 1: 159,684,874 probably benign Het
Gm5458 A G 14: 19,599,667 L163P probably damaging Het
Inpp5j T C 11: 3,502,176 N358S probably damaging Het
Ms4a8a A G 19: 11,070,787 L193P probably damaging Het
Neb T C 2: 52,212,728 K4511R probably benign Het
Olfr1436 A G 19: 12,298,785 S116P probably damaging Het
Pcca A G 14: 122,876,900 D82G probably damaging Het
Pou2f3 T C 9: 43,137,384 T266A probably benign Het
Ppp1r26 T A 2: 28,453,718 L1120Q probably damaging Het
Pudp T G 18: 50,568,278 K128T probably damaging Het
Rcn1 T C 2: 105,394,829 T94A possibly damaging Het
Six5 T C 7: 19,097,678 L698P probably damaging Het
Slc30a9 T C 5: 67,349,826 V487A probably damaging Het
Tbx21 T C 11: 97,100,082 I257V possibly damaging Het
Tg A G 15: 66,681,882 D382G probably benign Het
Trim34b C A 7: 104,329,652 C35* probably null Het
Usp47 A G 7: 112,093,370 D1013G probably damaging Het
Other mutations in Slc13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc13a4 APN 6 35289824 missense probably benign 0.01
IGL01069:Slc13a4 APN 6 35268882 missense probably damaging 1.00
IGL01319:Slc13a4 APN 6 35307353 splice site probably null
IGL01560:Slc13a4 APN 6 35271603 splice site probably benign
IGL02125:Slc13a4 APN 6 35278288 missense probably benign 0.23
IGL02415:Slc13a4 APN 6 35283237 critical splice donor site probably null
IGL02888:Slc13a4 APN 6 35268840 missense probably benign 0.10
R0047:Slc13a4 UTSW 6 35287362 missense possibly damaging 0.84
R0047:Slc13a4 UTSW 6 35287362 missense possibly damaging 0.84
R0532:Slc13a4 UTSW 6 35287404 splice site probably null
R0747:Slc13a4 UTSW 6 35278328 missense probably damaging 1.00
R1391:Slc13a4 UTSW 6 35271662 missense probably damaging 0.96
R2106:Slc13a4 UTSW 6 35287864 missense probably damaging 0.99
R2253:Slc13a4 UTSW 6 35280483 missense probably benign 0.00
R3195:Slc13a4 UTSW 6 35268926 missense probably damaging 1.00
R3689:Slc13a4 UTSW 6 35268910 missense possibly damaging 0.87
R3698:Slc13a4 UTSW 6 35274957 missense probably benign 0.06
R3785:Slc13a4 UTSW 6 35287892 missense probably damaging 1.00
R3856:Slc13a4 UTSW 6 35271604 splice site probably null
R5400:Slc13a4 UTSW 6 35301842 nonsense probably null
R6142:Slc13a4 UTSW 6 35301783 missense probably damaging 0.99
R6645:Slc13a4 UTSW 6 35268839 missense probably benign 0.19
R6851:Slc13a4 UTSW 6 35301733 missense probably damaging 1.00
R7200:Slc13a4 UTSW 6 35287350 missense possibly damaging 0.56
R7513:Slc13a4 UTSW 6 35283337 intron probably null
R7590:Slc13a4 UTSW 6 35279463 missense possibly damaging 0.90
R7673:Slc13a4 UTSW 6 35276476 missense probably damaging 1.00
R7706:Slc13a4 UTSW 6 35270355 missense possibly damaging 0.92
R8056:Slc13a4 UTSW 6 35268952 missense probably damaging 1.00
Z1176:Slc13a4 UTSW 6 35278292 missense probably damaging 0.96
Z1177:Slc13a4 UTSW 6 35289849 missense possibly damaging 0.75
Z1177:Slc13a4 UTSW 6 35289850 missense probably damaging 0.98
Posted On2013-04-17