Incidental Mutation 'IGL00230:Slc13a4'
ID 2388
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 # IGL00230
Quality Score
Status
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35266759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 112 (M112K)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably benign
Transcript: ENSMUST00000031868
AA Change: M112K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: M112K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155366
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,553,160 (GRCm39) A215V probably damaging Het
Cfap91 A G 16: 38,156,704 (GRCm39) probably null Het
Cyp2j6 C T 4: 96,424,283 (GRCm39) R158H possibly damaging Het
Dnaaf2 T C 12: 69,243,540 (GRCm39) D507G probably benign Het
Fam13b T C 18: 34,620,149 (GRCm39) E245G possibly damaging Het
Gal3st1 A T 11: 3,949,070 (GRCm39) probably benign Het
Galnt5 A T 2: 57,888,985 (GRCm39) Q195L probably benign Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gigyf1 A G 5: 137,521,007 (GRCm39) probably benign Het
Gm4353 G T 7: 115,682,789 (GRCm39) T264K probably damaging Het
Gsk3b A T 16: 38,049,069 (GRCm39) I389F probably benign Het
H2bc14 G T 13: 21,906,545 (GRCm39) R93L possibly damaging Het
Htt A G 5: 34,956,752 (GRCm39) T194A probably benign Het
Ighg3 T C 12: 113,323,457 (GRCm39) Y273C unknown Het
Kdm5b T A 1: 134,548,693 (GRCm39) V1066D probably damaging Het
Kif1a G T 1: 92,982,656 (GRCm39) A707E probably damaging Het
Mars1 A G 10: 127,133,875 (GRCm39) M674T probably benign Het
Mas1 T C 17: 13,060,877 (GRCm39) D182G probably benign Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Nhsl1 T A 10: 18,403,357 (GRCm39) D1329E probably benign Het
Ninl T C 2: 150,808,161 (GRCm39) E289G probably damaging Het
Pmel G T 10: 128,551,958 (GRCm39) G264V possibly damaging Het
Ruvbl1 T C 6: 88,461,385 (GRCm39) probably benign Het
Scn8a T A 15: 100,853,413 (GRCm39) probably benign Het
Septin9 T C 11: 117,245,630 (GRCm39) probably benign Het
Sgpp1 G T 12: 75,762,968 (GRCm39) Y404* probably null Het
Sgsm1 T C 5: 113,392,930 (GRCm39) I788V probably benign Het
Slc22a29 T C 19: 8,195,177 (GRCm39) M153V probably benign Het
Slc9c1 T G 16: 45,393,752 (GRCm39) V565G possibly damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tec C T 5: 72,926,111 (GRCm39) A314T probably damaging Het
Tg A G 15: 66,699,139 (GRCm39) I803V probably benign Het
Trav9-1 A T 14: 53,725,850 (GRCm39) I55F probably benign Het
Ttll12 C A 15: 83,462,857 (GRCm39) E536D probably benign Het
Ubqln1 C A 13: 58,325,806 (GRCm39) E152* probably null Het
Wwtr1 G A 3: 57,370,912 (GRCm39) T338I probably benign Het
Zdhhc16 T C 19: 41,928,099 (GRCm39) F206S probably benign Het
Other mutations in Slc13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-12-09