Incidental Mutation 'R6766:Slc26a1'
ID 531913
Institutional Source Beutler Lab
Gene Symbol Slc26a1
Ensembl Gene ENSMUSG00000046959
Gene Name solute carrier family 26 (sulfate transporter), member 1
Synonyms Sat1
MMRRC Submission 044882-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.435) question?
Stock # R6766 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108817744-108823435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108819773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 475 (D475E)
Ref Sequence ENSEMBL: ENSMUSP00000131282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051757] [ENSMUST00000071650] [ENSMUST00000112563] [ENSMUST00000119212] [ENSMUST00000119270] [ENSMUST00000132708] [ENSMUST00000136227] [ENSMUST00000139734] [ENSMUST00000140620] [ENSMUST00000163328]
AlphaFold P58735
Predicted Effect probably damaging
Transcript: ENSMUST00000051757
AA Change: D475E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: D475E

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 damaging
Transcript: ENSMUST00000119270
AA Change: D491E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: D491E

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 probably benign
Transcript: ENSMUST00000136227
SMART Domains Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 54 137 3.4e-31 PFAM
Pfam:Sulfate_transp 200 416 2.2e-62 PFAM
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
Predicted Effect probably damaging
Transcript: ENSMUST00000163328
AA Change: D475E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: D475E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 G A 8: 25,362,646 (GRCm39) S17L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Ankrd34c A G 9: 89,611,381 (GRCm39) V320A probably benign Het
Aox1 C A 1: 58,388,227 (GRCm39) L1112I possibly damaging Het
Arap2 A C 5: 62,834,443 (GRCm39) probably null Het
Atm A T 9: 53,401,582 (GRCm39) I1429N probably damaging Het
Ccdc68 A G 18: 70,099,861 (GRCm39) N290D probably damaging Het
Chst1 T C 2: 92,443,542 (GRCm39) W5R probably damaging Het
Clip1 G T 5: 123,752,827 (GRCm39) probably benign Het
Crebbp T C 16: 3,935,364 (GRCm39) T842A probably damaging Het
Cyp2b13 T C 7: 25,781,236 (GRCm39) probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,358,522 (GRCm39) probably null Het
Dst A G 1: 34,333,564 (GRCm39) I4800V probably damaging Het
Efcab7 CAAGTAAAGTAA CAAGTAA 4: 99,735,161 (GRCm39) probably null Het
Epb41l2 C T 10: 25,348,990 (GRCm39) Q382* probably null Het
Fam83e A G 7: 45,376,070 (GRCm39) D261G probably damaging Het
Ifnk T G 4: 35,152,134 (GRCm39) S21A possibly damaging Het
Ift122 A G 6: 115,903,204 (GRCm39) H1157R probably benign Het
Ighv1-67 T C 12: 115,567,654 (GRCm39) K67R possibly damaging Het
Inpp4a C A 1: 37,411,422 (GRCm39) A97D probably damaging Het
Insm1 T A 2: 146,065,346 (GRCm39) Y387* probably null Het
Irgm1 T C 11: 48,756,928 (GRCm39) I294M possibly damaging Het
Isoc2b C T 7: 4,854,061 (GRCm39) V104M probably damaging Het
Kif2c A C 4: 117,024,280 (GRCm39) S311R probably benign Het
Morn3 G A 5: 123,179,270 (GRCm39) A60V probably damaging Het
Oit3 T C 10: 59,274,534 (GRCm39) N89D probably damaging Het
Or14c40 A T 7: 86,313,293 (GRCm39) N141I probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4c127 T C 2: 89,832,876 (GRCm39) V42A probably benign Het
Or5d44 T A 2: 88,142,095 (GRCm39) Q15L noncoding transcript Het
Or8b48 A C 9: 38,493,069 (GRCm39) R165S probably damaging Het
Pan2 C A 10: 128,150,381 (GRCm39) N708K possibly damaging Het
Parp1 T A 1: 180,425,927 (GRCm39) V886E probably damaging Het
Pcdha8 C A 18: 37,127,753 (GRCm39) A745E probably benign Het
Pcyox1 C T 6: 86,371,390 (GRCm39) probably null Het
Prl2c2 A T 13: 13,176,713 (GRCm39) probably null Het
Samd1 T C 8: 84,726,361 (GRCm39) S473P possibly damaging Het
Slco1c1 T C 6: 141,493,535 (GRCm39) V239A possibly damaging Het
Smo T A 6: 29,736,044 (GRCm39) L12Q unknown Homo
Srpk1 C T 17: 28,821,727 (GRCm39) R229Q possibly damaging Het
Syn2 T A 6: 115,216,362 (GRCm39) F191L probably damaging Het
Syngr2 T C 11: 117,704,261 (GRCm39) V182A probably benign Het
Tarbp1 G A 8: 127,174,139 (GRCm39) A889V probably benign Het
Tbc1d2b T C 9: 90,108,262 (GRCm39) T430A probably benign Het
Tmem217 T A 17: 29,745,484 (GRCm39) Y82F probably damaging Het
Ttll9 T A 2: 152,841,220 (GRCm39) Y272* probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vsig8 T A 1: 172,388,143 (GRCm39) M37K probably benign Het
Vwf G T 6: 125,616,339 (GRCm39) D1218Y unknown Het
Wdr11 T G 7: 129,226,036 (GRCm39) M727R probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Yod1 T A 1: 130,647,008 (GRCm39) L295* probably null Het
Zfp113 G T 5: 138,143,608 (GRCm39) S214* probably null Het
Zfp438 T A 18: 5,213,780 (GRCm39) M393L probably benign Het
Zfp946 G A 17: 22,674,752 (GRCm39) C502Y 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
R6088:Slc26a1 UTSW 5 108,821,872 (GRCm39) missense possibly damaging 0.84
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'- CAGCAGCATCCTCATAGAAGGTG -3'
(R):5'- TTGCCACTAGTGCTGCTCTG -3'

Sequencing Primer
(F):5'- CATCCTCATAGAAGGTGGAGTCTC -3'
(R):5'- GCTCTGTCCAAAACTCTGGTGAAG -3'
Posted On 2018-08-29