Incidental Mutation 'IGL02888:Slc13a4'
ID 363046
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 # IGL02888
Quality Score
Status
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35245775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 623 (D623E)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably benign
Transcript: ENSMUST00000031868
AA Change: D623E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: D623E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,610 (GRCm39) H345R probably damaging Het
Afap1l1 T A 18: 61,881,879 (GRCm39) Y272F probably damaging Het
AI661453 C A 17: 47,778,329 (GRCm39) probably benign Het
Ajap1 T G 4: 153,516,718 (GRCm39) I208L probably benign Het
Aldh3b2 G A 19: 4,030,083 (GRCm39) V356M probably benign Het
Angptl7 T A 4: 148,580,788 (GRCm39) probably benign Het
Atp2a3 G A 11: 72,867,954 (GRCm39) probably benign Het
Birc2 T C 9: 7,819,559 (GRCm39) D451G probably benign Het
Brpf3 G A 17: 29,047,365 (GRCm39) R1043H probably damaging Het
Cd177 A G 7: 24,457,862 (GRCm39) L132P probably damaging Het
Chsy3 A G 18: 59,543,067 (GRCm39) D735G probably benign Het
Cldn8 A T 16: 88,359,271 (GRCm39) I218K probably benign Het
Cltc T C 11: 86,648,123 (GRCm39) probably benign Het
Col22a1 T C 15: 71,718,068 (GRCm39) H619R unknown Het
Crxos G A 7: 15,636,855 (GRCm39) E143K possibly damaging Het
Dcp1b A G 6: 119,197,048 (GRCm39) probably benign Het
Ddc A G 11: 11,772,297 (GRCm39) probably benign Het
Dnajc13 A T 9: 104,057,261 (GRCm39) probably benign Het
Dnajc27 C T 12: 4,139,186 (GRCm39) H75Y possibly damaging Het
Fgd3 C T 13: 49,435,292 (GRCm39) probably null Het
Gcc2 A G 10: 58,130,650 (GRCm39) D1414G probably damaging Het
Gtf3c2 G A 5: 31,331,169 (GRCm39) P169L probably damaging Het
Ighv1-76 T A 12: 115,811,566 (GRCm39) S96C probably damaging Het
Lmbrd1 T A 1: 24,754,053 (GRCm39) I206K possibly damaging Het
Lypd5 A G 7: 24,052,044 (GRCm39) S120G probably damaging Het
Mgat4b T A 11: 50,123,159 (GRCm39) Y249N probably damaging Het
Msh4 A T 3: 153,602,550 (GRCm39) L32* probably null Het
Muc4 A G 16: 32,575,656 (GRCm39) probably benign Het
Myo6 A G 9: 80,177,013 (GRCm39) probably benign Het
Nenf T C 1: 191,042,118 (GRCm39) T113A probably benign Het
Nup85 A G 11: 115,469,626 (GRCm39) D75G possibly damaging Het
Nutm1 A T 2: 112,080,980 (GRCm39) L438Q probably damaging Het
Oas1h A T 5: 120,999,610 (GRCm39) I32F probably benign Het
Oasl1 G A 5: 115,075,241 (GRCm39) V434M probably damaging Het
Or2a5 A G 6: 42,874,263 (GRCm39) N293D probably damaging Het
Or9s27 T C 1: 92,516,925 (GRCm39) L291P probably damaging Het
Pde2a C A 7: 101,154,276 (GRCm39) H549Q probably damaging Het
Phkb G T 8: 86,662,101 (GRCm39) probably null Het
Pigm T C 1: 172,205,214 (GRCm39) C317R probably damaging Het
Ppl A T 16: 4,918,271 (GRCm39) S470R possibly damaging Het
Pramel14 G A 4: 143,720,669 (GRCm39) R91W probably benign Het
Stx11 A G 10: 12,817,359 (GRCm39) S122P possibly damaging Het
Sytl3 A G 17: 7,000,483 (GRCm39) T218A probably benign Het
Tango6 A G 8: 107,447,297 (GRCm39) D565G probably damaging Het
Tex14 T C 11: 87,418,738 (GRCm39) probably null Het
Tinag T C 9: 76,938,995 (GRCm39) D161G probably benign Het
Vcpip1 T C 1: 9,795,011 (GRCm39) D1120G probably damaging Het
Zfp446 G A 7: 12,713,255 (GRCm39) A98T probably damaging Het
Other mutations in Slc13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc13a4 APN 6 35,266,759 (GRCm39) missense probably benign 0.01
IGL00975:Slc13a4 APN 6 35,251,910 (GRCm39) missense probably benign 0.18
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
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 2015-12-18