Incidental Mutation 'R7971:Slc13a4'
ID 650605
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 046014-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R7971 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35248695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 484 (L484P)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably damaging
Transcript: ENSMUST00000031868
AA Change: L484P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: L484P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik G A 11: 81,754,526 (GRCm39) A16T unknown Het
Abcc1 T A 16: 14,266,443 (GRCm39) D880E probably benign Het
Adamts2 G A 11: 50,647,523 (GRCm39) V299I probably damaging Het
Akap6 T C 12: 53,186,578 (GRCm39) S1331P probably damaging Het
Alms1 T C 6: 85,605,661 (GRCm39) L1968S probably benign Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Cacnb2 A T 2: 14,976,409 (GRCm39) M277L possibly damaging Het
Cd80 T A 16: 38,294,391 (GRCm39) Y91* probably null Het
Cfap46 A G 7: 139,215,043 (GRCm39) S1561P unknown Het
Clasp1 C T 1: 118,449,559 (GRCm39) R647W probably damaging Het
Creld1 T C 6: 113,468,933 (GRCm39) V299A probably benign Het
Csk C A 9: 57,535,970 (GRCm39) G260V probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dgkg G A 16: 22,388,966 (GRCm39) Q403* probably null Het
Dnaaf2 T C 12: 69,244,119 (GRCm39) D314G probably damaging Het
Dsp T A 13: 38,376,499 (GRCm39) L1428Q probably damaging Het
Fastkd1 A G 2: 69,537,703 (GRCm39) V293A probably benign Het
Gm4353 C A 7: 115,682,747 (GRCm39) S278I possibly damaging Het
Hmgb2 A G 8: 57,966,168 (GRCm39) M75V possibly damaging Het
Hoxa4 G A 6: 52,168,711 (GRCm39) probably benign Het
Ifi206 A T 1: 173,298,976 (GRCm39) W877R unknown Het
Ifi44 T A 3: 151,454,857 (GRCm39) I123F possibly damaging Het
Kcnh6 A G 11: 105,908,353 (GRCm39) Y323C probably damaging Het
Lars1 T C 18: 42,351,631 (GRCm39) T858A probably benign Het
Mest T A 6: 30,740,734 (GRCm39) I38N Het
Npy2r A T 3: 82,448,175 (GRCm39) I200N probably damaging Het
Olfm4 T A 14: 80,259,240 (GRCm39) M496K probably damaging Het
Olfml2a A T 2: 38,831,794 (GRCm39) probably null Het
Omd A T 13: 49,743,730 (GRCm39) H260L probably benign Het
Or8c16 G T 9: 38,130,843 (GRCm39) L238F probably benign Het
Pigk C A 3: 152,450,176 (GRCm39) Q274K probably benign Het
Pmpca G A 2: 26,283,164 (GRCm39) G352R probably damaging Het
Prex1 C T 2: 166,423,859 (GRCm39) S1181N probably damaging Het
Prkg2 A T 5: 99,079,873 (GRCm39) F762Y probably damaging Het
Rcc1l A G 5: 134,194,208 (GRCm39) S250P probably damaging Het
Rufy1 A T 11: 50,312,498 (GRCm39) F152Y probably damaging Het
Scaf1 T A 7: 44,652,965 (GRCm39) T1179S unknown Het
Sh3d19 A G 3: 86,022,103 (GRCm39) D511G probably benign Het
Shroom3 C T 5: 93,098,933 (GRCm39) S1471L probably damaging Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Slc35a1 T C 4: 34,664,161 (GRCm39) D319G probably benign Het
Synm T C 7: 67,384,983 (GRCm39) E893G possibly damaging Het
Tatdn2 A G 6: 113,687,235 (GRCm39) probably null Het
Thada T A 17: 84,580,197 (GRCm39) D1419V possibly damaging Het
Tmem87b A G 2: 128,692,250 (GRCm39) D535G probably null Het
Tnfrsf25 A C 4: 152,204,193 (GRCm39) Q378P probably damaging Het
Trim34a T C 7: 103,897,025 (GRCm39) C30R probably damaging Het
Triml2 T C 8: 43,643,313 (GRCm39) S212P probably damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S 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
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
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'- GTCTTATCCACTCACCAGGG -3'
(R):5'- AATGTCCCATGAGCAGGAAAC -3'

Sequencing Primer
(F):5'- TTATCCACTCACCAGGGTACAAAGG -3'
(R):5'- GTACAATCTTGAGACATTTCTGCGC -3'
Posted On 2020-09-15