Incidental Mutation 'R4327:Slc13a1'
ID 324413
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 041097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R4327 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24088282-24168091 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24103478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 355 (V355A)
Ref Sequence ENSEMBL: ENSMUSP00000031713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031713]
AlphaFold Q9JHI4
Predicted Effect probably benign
Transcript: ENSMUST00000031713
AA Change: V355A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031713
Gene: ENSMUSG00000029700
AA Change: V355A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177412
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,221,664 (GRCm39) D55G possibly damaging Het
Alcam T C 16: 52,073,579 (GRCm39) N549S possibly damaging Het
Arap2 A T 5: 62,779,206 (GRCm39) H1461Q possibly damaging Het
Arhgef12 C A 9: 42,886,525 (GRCm39) E1152* probably null Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atp1a3 A G 7: 24,687,056 (GRCm39) probably benign Het
Bcl2l1 A G 2: 152,624,099 (GRCm39) V223A probably benign Het
C9orf72 T A 4: 35,225,985 (GRCm39) probably benign Het
Cela3b G T 4: 137,151,242 (GRCm39) A137E probably benign Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Col16a1 T C 4: 129,988,344 (GRCm39) probably null Het
Ctcfl G A 2: 172,955,299 (GRCm39) probably benign Het
Cyp2j8 T A 4: 96,395,566 (GRCm39) T20S probably benign Het
Fastkd2 A G 1: 63,791,516 (GRCm39) K675E probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Hmgxb3 A T 18: 61,300,611 (GRCm39) M155K probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kcnn1 A T 8: 71,305,307 (GRCm39) V301E probably damaging Het
Kcnq4 T C 4: 120,568,561 (GRCm39) E385G probably benign Het
Klhl28 G A 12: 64,996,952 (GRCm39) A463V probably damaging Het
Lhb A G 7: 45,070,383 (GRCm39) R3G possibly damaging Het
Lingo2 T A 4: 35,708,462 (GRCm39) D506V probably damaging Het
Macf1 C T 4: 123,276,005 (GRCm39) A4176T probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Med12l T C 3: 59,172,688 (GRCm39) S1813P probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Muc2 A C 7: 141,281,577 (GRCm39) S479R probably damaging Het
Or11g27 T A 14: 50,770,971 (GRCm39) I34N probably benign Het
Or12e10 G T 2: 87,640,496 (GRCm39) V111L probably benign Het
Or2t1 T A 14: 14,328,193 (GRCm38) F27L probably damaging Het
Or52n1 G A 7: 104,382,833 (GRCm39) T246I probably damaging Het
Pafah1b1 T C 11: 74,573,066 (GRCm39) T333A probably benign Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pex26 A T 6: 121,164,373 (GRCm39) E172V probably damaging Het
Pitrm1 A G 13: 6,629,809 (GRCm39) probably benign Het
Ptprs C A 17: 56,754,468 (GRCm39) A191S possibly damaging Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Scn7a A G 2: 66,567,815 (GRCm39) F260L probably damaging Het
Serpinb3a T A 1: 106,979,500 (GRCm39) M1L probably damaging Het
Sh3d19 T C 3: 86,031,020 (GRCm39) I728T probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
St7 G A 6: 17,819,287 (GRCm39) V64M probably damaging Het
Tcf25 T A 8: 124,127,882 (GRCm39) L622* probably null Het
Tiam1 A G 16: 89,652,779 (GRCm39) V781A possibly damaging Het
Tigd2 C A 6: 59,187,562 (GRCm39) T143K probably benign Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tmem161b G A 13: 84,399,359 (GRCm39) G5D probably damaging Het
Tonsl G A 15: 76,523,916 (GRCm39) A28V probably benign Het
Treml4 T C 17: 48,581,417 (GRCm39) Y222H probably damaging Het
Trp53bp1 A T 2: 121,087,131 (GRCm39) V175D probably damaging Het
Zfp184 T C 13: 22,144,072 (GRCm39) Y593H probably damaging Het
Zfp286 A G 11: 62,670,844 (GRCm39) C410R probably damaging Het
Zfp934 T G 13: 62,665,373 (GRCm39) N312H probably benign 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
R2940:Slc13a1 UTSW 6 24,090,779 (GRCm39) missense possibly damaging 0.79
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
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'- CCTGATCTTTATGCAGGGCGTG -3'
(R):5'- TGCTAGGTGGAAACGCTGAG -3'

Sequencing Primer
(F):5'- AGGGCGTGATGGCTATCC -3'
(R):5'- CTGAGAAGGAGAAAGCGACCTCTG -3'
Posted On 2015-06-24