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 9630060C05Rik, SUT1, SUT-1
MMRRC Submission 042971-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R5400 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 35267957-35308131 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 35301842 bp (GRCm38)
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
9330182L06Rik A T 5: 9,479,247 (GRCm38) N1027Y probably damaging Het
Accsl T C 2: 93,859,422 (GRCm38) D380G probably damaging Het
Afm T C 5: 90,551,398 (GRCm38) L567P possibly damaging Het
AI481877 A G 4: 59,082,432 (GRCm38) S399P possibly damaging Het
Anks1b A T 10: 90,512,824 (GRCm38) I785L probably damaging Het
Arpc5l G A 2: 39,013,735 (GRCm38) G79S probably benign Het
Arvcf G T 16: 18,399,070 (GRCm38) R440L probably benign Het
Atm T C 9: 53,503,018 (GRCm38) D924G probably damaging Het
Atp8b1 A T 18: 64,545,989 (GRCm38) probably null Het
Cd19 C T 7: 126,414,452 (GRCm38) G55D probably benign Het
Cd34 A G 1: 194,938,958 (GRCm38) probably benign Het
Cd69 T A 6: 129,269,991 (GRCm38) M88L probably benign Het
Ces2h A G 8: 105,018,425 (GRCm38) E397G probably benign Het
Ddx60 T C 8: 62,010,002 (GRCm38) F1306L possibly damaging Het
Dennd5b T C 6: 149,000,016 (GRCm38) E1124G probably damaging Het
Dio1 A T 4: 107,306,988 (GRCm38) M44K probably damaging Het
En1 A G 1: 120,603,595 (GRCm38) D188G probably damaging Het
Epha10 C T 4: 124,914,121 (GRCm38) probably benign Het
Fam120b A T 17: 15,403,126 (GRCm38) L455F possibly damaging Het
Flt4 AC ACC 11: 49,651,034 (GRCm38) probably null Het
Gm38394 G A 1: 133,658,141 (GRCm38) T486I probably damaging Het
Incenp A G 19: 9,877,675 (GRCm38) probably null Het
Kansl3 A G 1: 36,358,149 (GRCm38) V86A possibly damaging Het
Klhl7 C G 5: 24,126,920 (GRCm38) F73L probably damaging Het
Med28 T A 5: 45,525,199 (GRCm38) V69D probably damaging Het
Mknk1 C A 4: 115,864,552 (GRCm38) L98M probably damaging Het
Mknk1 T A 4: 115,864,553 (GRCm38) L98Q probably damaging Het
Myo3b T A 2: 70,105,380 (GRCm38) C97S probably damaging Het
Neto1 A G 18: 86,395,908 (GRCm38) H9R possibly damaging Het
Olfr1230 T C 2: 89,296,913 (GRCm38) D119G probably damaging Het
Olfr317 T C 11: 58,732,320 (GRCm38) T282A possibly damaging Het
Olfr354 A T 2: 36,907,821 (GRCm38) I292F probably damaging Het
Olfr78 G A 7: 102,742,430 (GRCm38) T191I probably benign Het
Omd A T 13: 49,592,227 (GRCm38) E371V probably benign Het
Osbpl9 G T 4: 109,062,300 (GRCm38) Y733* probably null Het
Pcdh12 A T 18: 38,268,898 (GRCm38) S91R probably damaging Het
Pxk C A 14: 8,136,911 (GRCm38) P144Q probably benign Het
Qser1 A G 2: 104,789,874 (GRCm38) S198P probably damaging Het
Recql T G 6: 142,362,347 (GRCm38) probably benign Het
Reln T C 5: 21,979,714 (GRCm38) D1601G probably damaging Het
Scn10a T C 9: 119,609,034 (GRCm38) D1922G probably damaging Het
Scn11a T A 9: 119,769,908 (GRCm38) R1185S probably damaging Het
Sh3bp5 C A 14: 31,377,495 (GRCm38) R265L probably benign Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Slc9a9 T A 9: 94,712,901 (GRCm38) F155I probably damaging Het
Spef2 T A 15: 9,614,281 (GRCm38) K1193M probably damaging Het
Swt1 T C 1: 151,412,834 (GRCm38) T80A probably benign Het
Tmc1 A G 19: 20,804,602 (GRCm38) I584T probably damaging Het
Tsc22d1 C A 14: 76,417,054 (GRCm38) F324L probably benign Het
Usp19 T C 9: 108,500,193 (GRCm38) V1236A probably damaging Het
Vmn2r63 T C 7: 42,928,211 (GRCm38) N301S probably benign Het
Wrn C T 8: 33,294,917 (GRCm38) V476I probably benign Het
Zbtb25 C A 12: 76,349,702 (GRCm38) E249* probably null Het
Zfp54 C A 17: 21,433,700 (GRCm38) T152K probably benign Het
Other mutations in Slc13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc13a4 APN 6 35,289,824 (GRCm38) missense probably benign 0.01
IGL00975:Slc13a4 APN 6 35,274,975 (GRCm38) missense probably benign 0.18
IGL01069:Slc13a4 APN 6 35,268,882 (GRCm38) missense probably damaging 1.00
IGL01319:Slc13a4 APN 6 35,307,353 (GRCm38) splice site probably null
IGL01560:Slc13a4 APN 6 35,271,603 (GRCm38) splice site probably benign
IGL02125:Slc13a4 APN 6 35,278,288 (GRCm38) missense probably benign 0.23
IGL02415:Slc13a4 APN 6 35,283,237 (GRCm38) critical splice donor site probably null
IGL02888:Slc13a4 APN 6 35,268,840 (GRCm38) missense probably benign 0.10
R0047:Slc13a4 UTSW 6 35,287,362 (GRCm38) missense possibly damaging 0.84
R0047:Slc13a4 UTSW 6 35,287,362 (GRCm38) missense possibly damaging 0.84
R0532:Slc13a4 UTSW 6 35,287,404 (GRCm38) splice site probably null
R0747:Slc13a4 UTSW 6 35,278,328 (GRCm38) missense probably damaging 1.00
R1391:Slc13a4 UTSW 6 35,271,662 (GRCm38) missense probably damaging 0.96
R2106:Slc13a4 UTSW 6 35,287,864 (GRCm38) missense probably damaging 0.99
R2253:Slc13a4 UTSW 6 35,280,483 (GRCm38) missense probably benign 0.00
R3195:Slc13a4 UTSW 6 35,268,926 (GRCm38) missense probably damaging 1.00
R3689:Slc13a4 UTSW 6 35,268,910 (GRCm38) missense possibly damaging 0.87
R3698:Slc13a4 UTSW 6 35,274,957 (GRCm38) missense probably benign 0.06
R3785:Slc13a4 UTSW 6 35,287,892 (GRCm38) missense probably damaging 1.00
R3856:Slc13a4 UTSW 6 35,271,604 (GRCm38) splice site probably null
R6142:Slc13a4 UTSW 6 35,301,783 (GRCm38) missense probably damaging 0.99
R6645:Slc13a4 UTSW 6 35,268,839 (GRCm38) missense probably benign 0.19
R6851:Slc13a4 UTSW 6 35,301,733 (GRCm38) missense probably damaging 1.00
R7200:Slc13a4 UTSW 6 35,287,350 (GRCm38) missense possibly damaging 0.56
R7513:Slc13a4 UTSW 6 35,283,337 (GRCm38) splice site probably null
R7590:Slc13a4 UTSW 6 35,279,463 (GRCm38) missense possibly damaging 0.90
R7673:Slc13a4 UTSW 6 35,276,476 (GRCm38) missense probably damaging 1.00
R7706:Slc13a4 UTSW 6 35,270,355 (GRCm38) missense possibly damaging 0.92
R7971:Slc13a4 UTSW 6 35,271,760 (GRCm38) missense probably damaging 1.00
R8056:Slc13a4 UTSW 6 35,268,952 (GRCm38) missense probably damaging 1.00
R8428:Slc13a4 UTSW 6 35,268,879 (GRCm38) missense probably benign 0.21
R8486:Slc13a4 UTSW 6 35,270,369 (GRCm38) missense probably damaging 1.00
R8767:Slc13a4 UTSW 6 35,268,848 (GRCm38) missense probably benign 0.21
R8795:Slc13a4 UTSW 6 35,283,295 (GRCm38) missense probably benign 0.01
R9145:Slc13a4 UTSW 6 35,270,355 (GRCm38) missense possibly damaging 0.92
R9431:Slc13a4 UTSW 6 35,301,807 (GRCm38) missense probably damaging 1.00
Z1176:Slc13a4 UTSW 6 35,278,292 (GRCm38) missense probably damaging 0.96
Z1177:Slc13a4 UTSW 6 35,289,850 (GRCm38) missense probably damaging 0.98
Z1177:Slc13a4 UTSW 6 35,289,849 (GRCm38) 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