Incidental Mutation 'R5400:Slc13a4'
ID 429931
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 042971-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R5400 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 35278777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 37 (C37*)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably null
Transcript: ENSMUST00000031868
AA Change: C37*
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: C37*

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 0.9714 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (64/65)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T C 2: 93,689,767 (GRCm39) D380G probably damaging Het
Afm T C 5: 90,699,257 (GRCm39) L567P possibly damaging Het
Anks1b A T 10: 90,348,686 (GRCm39) I785L probably damaging Het
Arpc5l G A 2: 38,903,747 (GRCm39) G79S probably benign Het
Arvcf G T 16: 18,217,820 (GRCm39) R440L probably benign Het
Atm T C 9: 53,414,318 (GRCm39) D924G probably damaging Het
Atp8b1 A T 18: 64,679,060 (GRCm39) probably null Het
Cd19 C T 7: 126,013,624 (GRCm39) G55D probably benign Het
Cd34 A G 1: 194,621,266 (GRCm39) probably benign Het
Cd69 T A 6: 129,246,954 (GRCm39) M88L probably benign Het
Ces2h A G 8: 105,745,057 (GRCm39) E397G probably benign Het
Ddx60 T C 8: 62,463,036 (GRCm39) F1306L possibly damaging Het
Dennd5b T C 6: 148,901,514 (GRCm39) E1124G probably damaging Het
Dio1 A T 4: 107,164,185 (GRCm39) M44K probably damaging Het
Elapor2 A T 5: 9,529,247 (GRCm39) N1027Y probably damaging Het
En1 A G 1: 120,531,324 (GRCm39) D188G probably damaging Het
Epha10 C T 4: 124,807,914 (GRCm39) probably benign Het
Fam120b A T 17: 15,623,388 (GRCm39) L455F possibly damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Incenp A G 19: 9,855,039 (GRCm39) probably null Het
Kansl3 A G 1: 36,397,230 (GRCm39) V86A possibly damaging Het
Klhl7 C G 5: 24,331,918 (GRCm39) F73L probably damaging Het
Med28 T A 5: 45,682,541 (GRCm39) V69D probably damaging Het
Mknk1 C A 4: 115,721,749 (GRCm39) L98M probably damaging Het
Mknk1 T A 4: 115,721,750 (GRCm39) L98Q probably damaging Het
Myo3b T A 2: 69,935,724 (GRCm39) C97S probably damaging Het
Neto1 A G 18: 86,414,033 (GRCm39) H9R possibly damaging Het
Omd A T 13: 49,745,703 (GRCm39) E371V probably benign Het
Or1n2 A T 2: 36,797,833 (GRCm39) I292F probably damaging Het
Or2w3b T C 11: 58,623,146 (GRCm39) T282A possibly damaging Het
Or4c123 T C 2: 89,127,257 (GRCm39) D119G probably damaging Het
Or51e2 G A 7: 102,391,637 (GRCm39) T191I probably benign Het
Osbpl9 G T 4: 108,919,497 (GRCm39) Y733* probably null Het
Pcdh12 A T 18: 38,401,951 (GRCm39) S91R probably damaging Het
Pxk C A 14: 8,136,911 (GRCm38) P144Q probably benign Het
Qser1 A G 2: 104,620,219 (GRCm39) S198P probably damaging Het
Recql T G 6: 142,308,073 (GRCm39) probably benign Het
Reln T C 5: 22,184,712 (GRCm39) D1601G probably damaging Het
Scn10a T C 9: 119,438,100 (GRCm39) D1922G probably damaging Het
Scn11a T A 9: 119,598,974 (GRCm39) R1185S probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shoc1 A G 4: 59,082,432 (GRCm39) S399P possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc9a9 T A 9: 94,594,954 (GRCm39) F155I probably damaging Het
Spef2 T A 15: 9,614,367 (GRCm39) K1193M probably damaging Het
Swt1 T C 1: 151,288,585 (GRCm39) T80A probably benign Het
Tmc1 A G 19: 20,781,966 (GRCm39) I584T probably damaging Het
Tsc22d1 C A 14: 76,654,494 (GRCm39) F324L probably benign Het
Usp19 T C 9: 108,377,392 (GRCm39) V1236A probably damaging Het
Vmn2r63 T C 7: 42,577,635 (GRCm39) N301S probably benign Het
Wrn C T 8: 33,784,945 (GRCm39) V476I probably benign Het
Zbed6 G A 1: 133,585,879 (GRCm39) T486I probably damaging Het
Zbtb25 C A 12: 76,396,476 (GRCm39) E249* probably null Het
Zfp54 C A 17: 21,653,962 (GRCm39) T152K 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
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
Predicted Primers PCR Primer
(F):5'- CCCGTCGCTTGCTTATGAAC -3'
(R):5'- CTTTCACCCACAAAGGATGGCTAC -3'

Sequencing Primer
(F):5'- ATGAACCTCCTGTCCTCTGG -3'
(R):5'- AAGGATGGCTACTATCCTCATTGGC -3'
Posted On 2016-09-06