Incidental Mutation 'IGL00975:Slc13a4'
ID 27705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc13a4
Ensembl Gene ENSMUSG00000029843
Gene Name solute carrier family 13 (sodium/sulfate symporters), member 4
Synonyms SUT-1, SUT1, 9630060C05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # IGL00975
Quality Score
Status
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35251910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 461 (M461L)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
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: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Slc13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc13a4 APN 6 35,266,759 (GRCm39) missense probably benign 0.01
IGL01069:Slc13a4 APN 6 35,245,817 (GRCm39) missense probably damaging 1.00
IGL01319:Slc13a4 APN 6 35,284,288 (GRCm39) splice site probably null
IGL01560:Slc13a4 APN 6 35,248,538 (GRCm39) splice site probably benign
IGL02125:Slc13a4 APN 6 35,255,223 (GRCm39) missense probably benign 0.23
IGL02415:Slc13a4 APN 6 35,260,172 (GRCm39) critical splice donor site probably null
IGL02888:Slc13a4 APN 6 35,245,775 (GRCm39) missense probably benign 0.10
R0047:Slc13a4 UTSW 6 35,264,297 (GRCm39) missense possibly damaging 0.84
R0047:Slc13a4 UTSW 6 35,264,297 (GRCm39) missense possibly damaging 0.84
R0532:Slc13a4 UTSW 6 35,264,339 (GRCm39) splice site probably null
R0747:Slc13a4 UTSW 6 35,255,263 (GRCm39) missense probably damaging 1.00
R1391:Slc13a4 UTSW 6 35,248,597 (GRCm39) missense probably damaging 0.96
R2106:Slc13a4 UTSW 6 35,264,799 (GRCm39) missense probably damaging 0.99
R2253:Slc13a4 UTSW 6 35,257,418 (GRCm39) missense probably benign 0.00
R3195:Slc13a4 UTSW 6 35,245,861 (GRCm39) missense probably damaging 1.00
R3689:Slc13a4 UTSW 6 35,245,845 (GRCm39) missense possibly damaging 0.87
R3698:Slc13a4 UTSW 6 35,251,892 (GRCm39) missense probably benign 0.06
R3785:Slc13a4 UTSW 6 35,264,827 (GRCm39) missense probably damaging 1.00
R3856:Slc13a4 UTSW 6 35,248,539 (GRCm39) splice site probably null
R5400:Slc13a4 UTSW 6 35,278,777 (GRCm39) nonsense probably null
R6142:Slc13a4 UTSW 6 35,278,718 (GRCm39) missense probably damaging 0.99
R6645:Slc13a4 UTSW 6 35,245,774 (GRCm39) missense probably benign 0.19
R6851:Slc13a4 UTSW 6 35,278,668 (GRCm39) missense probably damaging 1.00
R7200:Slc13a4 UTSW 6 35,264,285 (GRCm39) missense possibly damaging 0.56
R7513:Slc13a4 UTSW 6 35,260,272 (GRCm39) splice site probably null
R7590:Slc13a4 UTSW 6 35,256,398 (GRCm39) missense possibly damaging 0.90
R7673:Slc13a4 UTSW 6 35,253,411 (GRCm39) missense probably damaging 1.00
R7706:Slc13a4 UTSW 6 35,247,290 (GRCm39) missense possibly damaging 0.92
R7971:Slc13a4 UTSW 6 35,248,695 (GRCm39) missense probably damaging 1.00
R8056:Slc13a4 UTSW 6 35,245,887 (GRCm39) missense probably damaging 1.00
R8428:Slc13a4 UTSW 6 35,245,814 (GRCm39) missense probably benign 0.21
R8486:Slc13a4 UTSW 6 35,247,304 (GRCm39) missense probably damaging 1.00
R8767:Slc13a4 UTSW 6 35,245,783 (GRCm39) missense probably benign 0.21
R8795:Slc13a4 UTSW 6 35,260,230 (GRCm39) missense probably benign 0.01
R9145:Slc13a4 UTSW 6 35,247,290 (GRCm39) missense possibly damaging 0.92
R9431:Slc13a4 UTSW 6 35,278,742 (GRCm39) missense probably damaging 1.00
Z1176:Slc13a4 UTSW 6 35,255,227 (GRCm39) missense probably damaging 0.96
Z1177:Slc13a4 UTSW 6 35,266,785 (GRCm39) missense probably damaging 0.98
Z1177:Slc13a4 UTSW 6 35,266,784 (GRCm39) missense possibly damaging 0.75
Posted On 2013-04-17