Incidental Mutation 'R8767:Slc13a4'
ID 667918
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 068601-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R8767 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35245783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 621 (I621F)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably benign
Transcript: ENSMUST00000031868
AA Change: I621F

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: I621F

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
Meta Mutation Damage Score 0.0625 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (36/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd31 A G 13: 96,969,224 (GRCm39) T954A probably damaging Het
Arhgap24 A T 5: 103,039,740 (GRCm39) M319L probably benign Het
Aste1 A G 9: 105,274,098 (GRCm39) N113D possibly damaging Het
Ccnh C T 13: 85,356,959 (GRCm39) Q275* probably null Het
Cfi G A 3: 129,644,497 (GRCm39) probably null Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Crybg3 T A 16: 59,376,500 (GRCm39) M1585L probably benign Het
D630036H23Rik A G 12: 36,431,441 (GRCm39) S186P unknown Het
Dnhd1 T C 7: 105,301,330 (GRCm39) L229P probably damaging Het
Dtymk A T 1: 93,728,635 (GRCm39) probably benign Het
Eif4g3 T A 4: 137,930,779 (GRCm39) I1511K probably damaging Het
Entrep3 T G 3: 89,091,725 (GRCm39) probably benign Het
Fastkd2 A G 1: 63,775,080 (GRCm39) D342G probably benign Het
Hcar1 A G 5: 124,017,113 (GRCm39) F193L probably damaging Het
Hivep2 T G 10: 14,004,992 (GRCm39) L530R probably damaging Het
Ilrun T C 17: 27,987,043 (GRCm39) T228A probably benign Het
Krtap5-2 TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA TCCACAGGAACTACA 7: 141,728,845 (GRCm39) probably benign Het
Lats2 G A 14: 57,931,781 (GRCm39) T879M probably damaging Het
Lin54 G A 5: 100,600,884 (GRCm39) T503I probably benign Het
Mmp16 T G 4: 18,051,714 (GRCm39) probably benign Het
Muc6 A G 7: 141,229,549 (GRCm39) Y1186H probably damaging Het
Nr3c1 A G 18: 39,619,387 (GRCm39) F300S probably damaging Het
Or2y1g A G 11: 49,171,227 (GRCm39) N84S possibly damaging Het
Or7g21 A C 9: 19,032,922 (GRCm39) I221L possibly damaging Het
Pcdha4 T C 18: 37,086,905 (GRCm39) S363P possibly damaging Het
Ptdss1 C T 13: 67,101,608 (GRCm39) A99V probably benign Het
Ptprz1 T A 6: 22,986,187 (GRCm39) L329Q probably damaging Het
Rnf115 T C 3: 96,695,907 (GRCm39) V231A probably damaging Het
Sh3pxd2a A G 19: 47,257,345 (GRCm39) Y486H probably damaging Het
Shh T A 5: 28,671,487 (GRCm39) N92I possibly damaging Het
Srrm1 T C 4: 135,059,532 (GRCm39) T438A unknown Het
Synj1 A C 16: 90,758,406 (GRCm39) F813V probably damaging Het
Tnrc6a A G 7: 122,783,133 (GRCm39) probably benign Het
Trir T A 8: 85,753,690 (GRCm39) F55I probably damaging Het
Tsr1 A G 11: 74,799,149 (GRCm39) T777A probably damaging Het
Vmn2r5 G A 3: 64,415,103 (GRCm39) R86C possibly 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
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
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'- CCAAGGCTTACAGTGTTTTCTGG -3'
(R):5'- GCTGTGGCCTCAGAATGATC -3'

Sequencing Primer
(F):5'- TTCTGGTCTTCAAAAAGAGAGAGCTG -3'
(R):5'- GCCTCAGAATGATCAGGGCTTTC -3'
Posted On 2021-03-08