Incidental Mutation 'R3785:Slc13a4'
ID 272210
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 040752-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R3785 (G1)
Quality Score 209
Status Validated
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35264827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 131 (T131S)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably damaging
Transcript: ENSMUST00000031868
AA Change: T131S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: T131S

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
Meta Mutation Damage Score 0.4355 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 95% (38/40)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A2ml1 C T 6: 128,521,887 (GRCm39) probably null Het
Aak1 T C 6: 86,942,560 (GRCm39) F701S unknown Het
Arid2 T A 15: 96,270,439 (GRCm39) D1517E possibly damaging Het
Cyp2r1 C T 7: 114,153,931 (GRCm39) V88I possibly damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dnah11 G T 12: 117,981,337 (GRCm39) Q2610K probably damaging Het
Gm5698 T C 1: 31,016,560 (GRCm39) T164A probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Gpx6 A G 13: 21,497,956 (GRCm39) T76A probably benign Het
Htra3 A T 5: 35,828,472 (GRCm39) L136H probably benign Het
Ifitm10 G A 7: 141,882,335 (GRCm39) T145I possibly damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Kcnd3 C A 3: 105,575,541 (GRCm39) T555K possibly damaging Het
Kif13b C T 14: 65,037,849 (GRCm39) T1505I probably benign Het
Mcf2l G T 8: 12,930,099 (GRCm39) G40C probably damaging Het
Mettl3 A T 14: 52,537,363 (GRCm39) I102N probably benign Het
Muc5b C T 7: 141,418,853 (GRCm39) T3933I possibly damaging Het
Mus81 G A 19: 5,535,389 (GRCm39) probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Mypn C A 10: 63,028,961 (GRCm39) R34L probably benign Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Or4f56 T C 2: 111,703,831 (GRCm39) Y123C probably damaging Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Or9g3 G A 2: 85,589,797 (GRCm39) P308S probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf5 A G 17: 34,820,906 (GRCm39) probably null Het
Sacs C A 14: 61,421,410 (GRCm39) Q116K probably damaging Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Senp6 T G 9: 79,999,568 (GRCm39) I74S probably benign Het
Slc9a4 C A 1: 40,623,130 (GRCm39) P123Q probably damaging Het
Stxbp4 T A 11: 90,426,441 (GRCm39) probably null Het
Swt1 T C 1: 151,255,155 (GRCm39) D814G probably benign Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Zfp26 A T 9: 20,349,098 (GRCm39) C489S probably damaging Het
Zfp804b G A 5: 6,820,153 (GRCm39) T934M 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
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
Predicted Primers PCR Primer
(F):5'- GCTCCAATGAAGATGGGCAC -3'
(R):5'- TTTTCCTGGCCATGGTCACTAG -3'

Sequencing Primer
(F):5'- CAGTGAACTGTACCCATGAG -3'
(R):5'- ATGGTCACTAGCCACGGC -3'
Posted On 2015-03-25