Incidental Mutation 'R6142:Slc13a4'
ID 488623
Institutional Source Beutler Lab
Gene Symbol Slc13a4
Ensembl Gene ENSMUSG00000029843
Gene Name solute carrier family 13 (sodium/sulfate symporters), member 4
Synonyms SUT-1, SUT1, 9630060C05Rik
MMRRC Submission 044289-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R6142 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35278718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 57 (A57V)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably damaging
Transcript: ENSMUST00000031868
AA Change: A57V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: A57V

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
Meta Mutation Damage Score 0.0934 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.2%
Validation Efficiency 100% (48/48)
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
Adcy6 T C 15: 98,496,303 (GRCm39) M579V probably benign Het
Agtr1b T C 3: 20,370,558 (GRCm39) D16G probably benign Het
Akap12 C A 10: 4,263,740 (GRCm39) probably null Het
Alpk2 T C 18: 65,438,456 (GRCm39) E979G possibly damaging Het
Arfgap3 T C 15: 83,234,328 (GRCm39) D8G probably damaging Het
AW551984 G T 9: 39,508,410 (GRCm39) L369I probably benign Het
Bmp8b A T 4: 123,009,043 (GRCm39) H207L probably benign Het
Cc2d2a G T 5: 43,860,540 (GRCm39) V490F probably damaging Het
Cnot6l C T 5: 96,230,837 (GRCm39) V377I probably benign Het
Col25a1 T A 3: 130,376,978 (GRCm39) probably benign Het
Crocc2 C G 1: 93,118,201 (GRCm39) Q375E possibly damaging Het
Ganc T C 2: 120,261,218 (GRCm39) probably null Het
Gm28168 C A 1: 117,875,678 (GRCm39) D102E probably benign Het
Gm8212 T C 14: 44,438,684 (GRCm39) probably null Het
Gria2 T C 3: 80,709,024 (GRCm39) T53A probably benign Het
Hipk4 G A 7: 27,228,590 (GRCm39) V347M probably damaging Het
Hmgxb3 T C 18: 61,269,309 (GRCm39) E991G probably benign Het
Hyal1 G A 9: 107,456,573 (GRCm39) R420H probably benign Het
Il5 G A 11: 53,611,805 (GRCm39) probably null Het
Kcnh7 T C 2: 62,569,704 (GRCm39) I731V possibly damaging Het
Lamb2 A T 9: 108,362,817 (GRCm39) K759* probably null Het
Lnpep A G 17: 17,786,943 (GRCm39) probably null Het
Lrch1 T C 14: 75,184,940 (GRCm39) E54G probably damaging Het
Msl3l2 A G 10: 55,991,461 (GRCm39) D62G possibly damaging Het
Mslnl T C 17: 25,963,531 (GRCm39) L339P probably damaging Het
Nfe2l2 T C 2: 75,509,761 (GRCm39) I20V probably damaging Het
Pgm5 A C 19: 24,801,772 (GRCm39) I152S probably damaging Het
Plcg2 C A 8: 118,312,010 (GRCm39) T434K probably benign Het
Prrc2c T C 1: 162,537,956 (GRCm39) E558G unknown Het
Ranbp3 T C 17: 56,993,018 (GRCm39) V12A probably benign Het
Rgsl1 A G 1: 153,687,984 (GRCm39) V635A probably benign Het
Rpap2 T C 5: 107,746,164 (GRCm39) V14A probably benign Het
Rxrg G T 1: 167,460,191 (GRCm39) A341S possibly damaging Het
Sbf2 A G 7: 109,948,182 (GRCm39) S1177P probably damaging Het
Sema6a T C 18: 47,414,266 (GRCm39) T498A probably benign Het
Slc6a3 A T 13: 73,692,902 (GRCm39) D174V probably benign Het
Spart T G 3: 55,024,669 (GRCm39) V88G probably damaging Het
Tanc1 A T 2: 59,663,566 (GRCm39) R1108* probably null Het
Tas2r140 C T 6: 133,032,698 (GRCm39) G20E probably damaging Het
Tdrd6 A G 17: 43,940,373 (GRCm39) V225A probably benign Het
Tmem168 C A 6: 13,591,368 (GRCm39) A99S probably benign Het
Tnk2 T A 16: 32,488,917 (GRCm39) D252E probably damaging Het
Tpsg1 A T 17: 25,591,460 (GRCm39) H20L probably benign Het
Tram1l1 T C 3: 124,115,092 (GRCm39) F84S probably damaging Het
Vmn2r12 T A 5: 109,240,763 (GRCm39) I117L probably benign Het
Zfp148 T C 16: 33,315,829 (GRCm39) L219S possibly damaging Het
Zfp40 C A 17: 23,395,311 (GRCm39) E425D probably benign Het
Zfp773 T C 7: 7,135,481 (GRCm39) T372A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGATCAAAGCCTAGTGC -3'
(R):5'- GCCAATGTCAGTATAGCATCTCC -3'

Sequencing Primer
(F):5'- GCCTAGTGCTCAGGAGTCTCTC -3'
(R):5'- GTCAGTATAGCATCTCCCAGTACTG -3'
Posted On 2017-10-10