Incidental Mutation 'R6088:Slc26a1'
ID 486089
Institutional Source Beutler Lab
Gene Symbol Slc26a1
Ensembl Gene ENSMUSG00000046959
Gene Name solute carrier family 26 (sulfate transporter), member 1
Synonyms Sat1
MMRRC Submission 044245-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R6088 (G1)
Quality Score 174.009
Status Validated
Chromosome 5
Chromosomal Location 108817744-108823435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108821872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 6 (E6K)
Ref Sequence ENSEMBL: ENSMUSP00000131282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051757] [ENSMUST00000071650] [ENSMUST00000112563] [ENSMUST00000119212] [ENSMUST00000119270] [ENSMUST00000132708] [ENSMUST00000136227] [ENSMUST00000163328] [ENSMUST00000139734] [ENSMUST00000140620]
AlphaFold P58735
Predicted Effect possibly damaging
Transcript: ENSMUST00000051757
AA Change: E6K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: E6K

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 54 137 4.9e-31 PFAM
Pfam:Sulfate_transp 200 478 3.1e-84 PFAM
Pfam:STAS 536 686 9.5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071650
SMART Domains Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 542 1.4e-223 PFAM
SCOP:d1bpv__ 546 643 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112563
SMART Domains Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 542 2.1e-224 PFAM
SCOP:d1bpv__ 546 643 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119212
SMART Domains Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Glyco_hydro_39 48 495 2.4e-193 PFAM
SCOP:d1bpv__ 499 596 3e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119270
AA Change: E22K

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: E22K

DomainStartEndE-ValueType
Pfam:Sulfate_transp 85 498 7.3e-135 PFAM
Pfam:STAS 552 702 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132708
SMART Domains Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

DomainStartEndE-ValueType
Blast:C1 26 56 2e-13 BLAST
low complexity region 68 81 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000136227
AA Change: E6K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959
AA Change: E6K

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 54 137 3.4e-31 PFAM
Pfam:Sulfate_transp 200 416 2.2e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163328
AA Change: E6K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: E6K

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 54 137 4.9e-31 PFAM
Pfam:Sulfate_transp 200 478 3.1e-84 PFAM
Pfam:STAS 536 686 9.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151445
Predicted Effect probably benign
Transcript: ENSMUST00000139734
SMART Domains Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 199 6.8e-80 PFAM
low complexity region 235 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140620
SMART Domains Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540

DomainStartEndE-ValueType
Pfam:Glyco_hydro_39 22 150 3.4e-52 PFAM
Meta Mutation Damage Score 0.0865 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene develop kidney stones and have an increased susceptibility to acetaminophen-induced liver damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) probably benign Het
Other mutations in Slc26a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Slc26a1 APN 5 108,819,744 (GRCm39) missense possibly damaging 0.75
IGL02566:Slc26a1 APN 5 108,821,665 (GRCm39) missense probably damaging 1.00
IGL03347:Slc26a1 APN 5 108,821,676 (GRCm39) missense probably damaging 1.00
R0744:Slc26a1 UTSW 5 108,821,389 (GRCm39) missense probably benign 0.01
R0833:Slc26a1 UTSW 5 108,821,389 (GRCm39) missense probably benign 0.01
R1518:Slc26a1 UTSW 5 108,819,740 (GRCm39) nonsense probably null
R1726:Slc26a1 UTSW 5 108,821,541 (GRCm39) missense probably damaging 1.00
R1766:Slc26a1 UTSW 5 108,819,658 (GRCm39) missense probably damaging 1.00
R1975:Slc26a1 UTSW 5 108,820,338 (GRCm39) missense probably damaging 1.00
R3953:Slc26a1 UTSW 5 108,821,448 (GRCm39) missense possibly damaging 0.85
R3954:Slc26a1 UTSW 5 108,821,448 (GRCm39) missense possibly damaging 0.85
R3955:Slc26a1 UTSW 5 108,821,448 (GRCm39) missense possibly damaging 0.85
R3969:Slc26a1 UTSW 5 108,821,818 (GRCm39) missense probably benign
R4259:Slc26a1 UTSW 5 108,820,496 (GRCm39) missense probably damaging 1.00
R5875:Slc26a1 UTSW 5 108,819,903 (GRCm39) missense probably damaging 1.00
R6036:Slc26a1 UTSW 5 108,821,436 (GRCm39) missense probably damaging 1.00
R6036:Slc26a1 UTSW 5 108,821,436 (GRCm39) missense probably damaging 1.00
R6057:Slc26a1 UTSW 5 108,821,631 (GRCm39) missense probably damaging 1.00
R6766:Slc26a1 UTSW 5 108,819,773 (GRCm39) missense probably damaging 0.99
R7230:Slc26a1 UTSW 5 108,819,611 (GRCm39) missense probably damaging 1.00
R7294:Slc26a1 UTSW 5 108,821,698 (GRCm39) missense possibly damaging 0.90
R7580:Slc26a1 UTSW 5 108,819,735 (GRCm39) missense probably damaging 1.00
R8396:Slc26a1 UTSW 5 108,821,715 (GRCm39) missense probably benign
R8833:Slc26a1 UTSW 5 108,820,182 (GRCm39) missense probably benign 0.02
R9556:Slc26a1 UTSW 5 108,820,404 (GRCm39) missense
R9569:Slc26a1 UTSW 5 108,819,460 (GRCm39) missense probably benign
Z1176:Slc26a1 UTSW 5 108,820,297 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAATGACCAATCCTGACATG -3'
(R):5'- AAGTACAACCTCACGTCAGTAGG -3'

Sequencing Primer
(F):5'- TGACATGACATCACCTGCTAGG -3'
(R):5'- TCAGTAGGACAGGCTCTGATATC -3'
Posted On 2017-08-16