Incidental Mutation 'R2940:Slc13a1'
ID 255124
Institutional Source Beutler Lab
Gene Symbol Slc13a1
Ensembl Gene ENSMUSG00000029700
Gene Name solute carrier family 13 (sodium/sulfate symporters), member 1
Synonyms Nas1, NaSi-1
MMRRC Submission 040517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R2940 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 24088282-24168091 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24090779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 547 (I547F)
Ref Sequence ENSEMBL: ENSMUSP00000031713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031713]
AlphaFold Q9JHI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000031713
AA Change: I547F

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: I547F

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 5 578 9.6e-101 PFAM
Pfam:CitMHS 45 168 3.9e-14 PFAM
Pfam:CitMHS 226 521 3.9e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174594
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,878,424 (GRCm39) W405R probably damaging Het
Apc G A 18: 34,409,723 (GRCm39) R221H probably damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Bltp1 A G 3: 37,012,954 (GRCm39) D1878G probably damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cngb1 T C 8: 95,978,735 (GRCm39) I573V probably benign Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dmap1 G A 4: 117,533,202 (GRCm39) T284M possibly damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif3a T C 19: 60,762,115 (GRCm39) T487A probably benign Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fam180a A T 6: 35,290,564 (GRCm39) S140T possibly damaging Het
Fibcd1 T C 2: 31,707,276 (GRCm39) Y327C probably damaging Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Igfbp1 A G 11: 7,151,970 (GRCm39) T258A probably benign Het
Isl1 T C 13: 116,444,835 (GRCm39) T65A possibly damaging Het
Khdrbs3 T A 15: 68,921,239 (GRCm39) D185E probably damaging Het
Klc1 C T 12: 111,772,451 (GRCm39) R157C possibly damaging Het
Lamc3 A G 2: 31,830,714 (GRCm39) S1484G probably benign Het
Lman1 G T 18: 66,117,344 (GRCm39) P466Q possibly damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbea C G 3: 55,842,045 (GRCm39) E1879Q probably benign Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pigc T C 1: 161,798,239 (GRCm39) Y74H possibly damaging Het
Plek C T 11: 16,942,887 (GRCm39) probably null Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rasgrf1 C T 9: 89,873,767 (GRCm39) A692V possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Sh3rf2 G A 18: 42,244,505 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,122,757 (GRCm39) D506G probably damaging Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Sorbs1 T C 19: 40,362,015 (GRCm39) D123G probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Tubb6 A G 18: 67,534,994 (GRCm39) N298D probably damaging Het
Xpo7 G T 14: 70,904,577 (GRCm39) L1020I probably benign Het
Xpo7 A T 14: 70,904,576 (GRCm39) L1020Q probably damaging Het
Zswim4 A T 8: 84,950,377 (GRCm39) L611Q probably damaging Het
Other mutations in Slc13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc13a1 APN 6 24,118,016 (GRCm39) missense possibly damaging 0.55
IGL01096:Slc13a1 APN 6 24,104,076 (GRCm39) missense probably damaging 0.97
IGL01788:Slc13a1 APN 6 24,134,371 (GRCm39) missense probably damaging 0.96
IGL02028:Slc13a1 APN 6 24,118,030 (GRCm39) missense probably benign 0.00
IGL02238:Slc13a1 APN 6 24,103,482 (GRCm39) missense probably benign 0.00
IGL02525:Slc13a1 APN 6 24,137,135 (GRCm39) missense probably damaging 1.00
IGL02741:Slc13a1 APN 6 24,150,707 (GRCm39) critical splice donor site probably null
IGL02894:Slc13a1 APN 6 24,137,041 (GRCm39) splice site probably benign
IGL03086:Slc13a1 APN 6 24,118,002 (GRCm39) missense probably damaging 1.00
Liliput UTSW 6 24,108,194 (GRCm39) missense probably damaging 0.97
munchkin UTSW 6 24,090,795 (GRCm39) nonsense probably null
R0294:Slc13a1 UTSW 6 24,090,779 (GRCm39) missense possibly damaging 0.79
R0419:Slc13a1 UTSW 6 24,100,292 (GRCm39) missense probably damaging 0.99
R1249:Slc13a1 UTSW 6 24,133,649 (GRCm39) missense probably benign 0.01
R1401:Slc13a1 UTSW 6 24,118,082 (GRCm39) splice site probably null
R1868:Slc13a1 UTSW 6 24,117,999 (GRCm39) missense probably damaging 1.00
R2191:Slc13a1 UTSW 6 24,134,396 (GRCm39) missense possibly damaging 0.71
R3740:Slc13a1 UTSW 6 24,134,476 (GRCm39) missense probably damaging 1.00
R4326:Slc13a1 UTSW 6 24,103,478 (GRCm39) missense probably benign 0.00
R4327:Slc13a1 UTSW 6 24,103,478 (GRCm39) missense probably benign 0.00
R4389:Slc13a1 UTSW 6 24,092,397 (GRCm39) splice site probably null
R4520:Slc13a1 UTSW 6 24,134,512 (GRCm39) missense probably benign 0.18
R4771:Slc13a1 UTSW 6 24,100,339 (GRCm39) nonsense probably null
R4883:Slc13a1 UTSW 6 24,134,356 (GRCm39) missense probably benign 0.01
R5133:Slc13a1 UTSW 6 24,103,428 (GRCm39) missense possibly damaging 0.95
R5213:Slc13a1 UTSW 6 24,108,158 (GRCm39) missense probably damaging 1.00
R5310:Slc13a1 UTSW 6 24,134,373 (GRCm39) missense probably benign 0.02
R5504:Slc13a1 UTSW 6 24,150,743 (GRCm39) missense possibly damaging 0.83
R5971:Slc13a1 UTSW 6 24,133,656 (GRCm39) missense probably benign 0.00
R6214:Slc13a1 UTSW 6 24,090,795 (GRCm39) nonsense probably null
R6215:Slc13a1 UTSW 6 24,090,795 (GRCm39) nonsense probably null
R6526:Slc13a1 UTSW 6 24,097,611 (GRCm39) missense probably damaging 0.97
R6562:Slc13a1 UTSW 6 24,150,792 (GRCm39) missense probably benign 0.35
R6573:Slc13a1 UTSW 6 24,137,094 (GRCm39) missense probably damaging 1.00
R6902:Slc13a1 UTSW 6 24,097,665 (GRCm39) missense possibly damaging 0.65
R7184:Slc13a1 UTSW 6 24,092,311 (GRCm39) missense probably damaging 0.99
R7536:Slc13a1 UTSW 6 24,100,330 (GRCm39) missense probably damaging 1.00
R7918:Slc13a1 UTSW 6 24,118,065 (GRCm39) missense probably benign 0.35
R8919:Slc13a1 UTSW 6 24,108,194 (GRCm39) missense probably damaging 0.97
R8971:Slc13a1 UTSW 6 24,090,785 (GRCm39) missense probably benign 0.30
R9151:Slc13a1 UTSW 6 24,097,662 (GRCm39) missense probably damaging 0.99
R9163:Slc13a1 UTSW 6 24,097,578 (GRCm39) critical splice donor site probably null
R9313:Slc13a1 UTSW 6 24,108,203 (GRCm39) missense probably benign 0.00
R9594:Slc13a1 UTSW 6 24,089,100 (GRCm39) missense probably damaging 0.98
R9755:Slc13a1 UTSW 6 24,134,407 (GRCm39) missense probably benign 0.01
U15987:Slc13a1 UTSW 6 24,133,656 (GRCm39) missense probably benign 0.00
Z1177:Slc13a1 UTSW 6 24,133,694 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTCTATTTGCGAGTGCTAACG -3'
(R):5'- TCCGAGTTTGAATTCAAGCCTC -3'

Sequencing Primer
(F):5'- TGCTAACGCTAAGGGCATTC -3'
(R):5'- GCCATTCAAGTGAACCCT -3'
Posted On 2014-12-29