Incidental Mutation 'R7441:Slc26a9'
ID 576933
Institutional Source Beutler Lab
Gene Symbol Slc26a9
Ensembl Gene ENSMUSG00000042268
Gene Name solute carrier family 26, member 9
Synonyms anion transporter/exchanger-9, E030002L01Rik
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R7441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 131671760-131699242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131690556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 520 (Y520C)
Ref Sequence ENSEMBL: ENSMUSP00000036916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049027] [ENSMUST00000186122]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049027
AA Change: Y520C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: Y520C

DomainStartEndE-ValueType
Pfam:Sulfate_transp 71 469 7.4e-99 PFAM
transmembrane domain 473 495 N/A INTRINSIC
Pfam:STAS 520 733 2.8e-27 PFAM
Predicted Effect silent
Transcript: ENSMUST00000186122
SMART Domains Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268

DomainStartEndE-ValueType
Pfam:Sulfate_transp 150 428 9.6e-58 PFAM
low complexity region 453 462 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one 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 yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced gastric secretory membranes and loss of gastric acid secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null Het
Other mutations in Slc26a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Slc26a9 APN 1 131,685,266 (GRCm39) missense probably damaging 0.97
IGL01131:Slc26a9 APN 1 131,683,280 (GRCm39) splice site probably null
IGL01544:Slc26a9 APN 1 131,687,233 (GRCm39) critical splice donor site probably null
IGL01845:Slc26a9 APN 1 131,685,256 (GRCm39) missense probably damaging 0.99
IGL02125:Slc26a9 APN 1 131,687,175 (GRCm39) missense probably damaging 1.00
IGL02151:Slc26a9 APN 1 131,691,781 (GRCm39) missense probably damaging 1.00
IGL02267:Slc26a9 APN 1 131,680,583 (GRCm39) missense probably damaging 1.00
IGL02469:Slc26a9 APN 1 131,690,674 (GRCm39) missense probably damaging 0.96
IGL03137:Slc26a9 APN 1 131,691,615 (GRCm39) missense probably benign 0.01
IGL03324:Slc26a9 APN 1 131,691,748 (GRCm39) missense probably damaging 1.00
R0588:Slc26a9 UTSW 1 131,681,749 (GRCm39) splice site probably benign
R0611:Slc26a9 UTSW 1 131,690,499 (GRCm39) missense probably damaging 1.00
R0639:Slc26a9 UTSW 1 131,691,542 (GRCm39) missense probably damaging 0.97
R0654:Slc26a9 UTSW 1 131,692,768 (GRCm39) missense probably benign 0.00
R0926:Slc26a9 UTSW 1 131,680,954 (GRCm39) missense probably benign 0.40
R1109:Slc26a9 UTSW 1 131,686,536 (GRCm39) missense probably benign 0.05
R1521:Slc26a9 UTSW 1 131,678,415 (GRCm39) missense probably damaging 1.00
R1728:Slc26a9 UTSW 1 131,693,750 (GRCm39) missense probably benign
R1728:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1729:Slc26a9 UTSW 1 131,693,750 (GRCm39) missense probably benign
R1729:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1730:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1739:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1762:Slc26a9 UTSW 1 131,693,750 (GRCm39) missense probably benign
R1762:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1783:Slc26a9 UTSW 1 131,693,750 (GRCm39) missense probably benign
R1783:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1784:Slc26a9 UTSW 1 131,693,750 (GRCm39) missense probably benign
R1784:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1785:Slc26a9 UTSW 1 131,693,750 (GRCm39) missense probably benign
R1785:Slc26a9 UTSW 1 131,691,608 (GRCm39) missense probably benign 0.05
R1992:Slc26a9 UTSW 1 131,690,532 (GRCm39) missense probably damaging 1.00
R2198:Slc26a9 UTSW 1 131,691,001 (GRCm39) splice site probably benign
R3008:Slc26a9 UTSW 1 131,693,652 (GRCm39) missense probably damaging 1.00
R3409:Slc26a9 UTSW 1 131,691,682 (GRCm39) missense probably benign
R3879:Slc26a9 UTSW 1 131,696,969 (GRCm39) missense probably benign 0.39
R4064:Slc26a9 UTSW 1 131,690,925 (GRCm39) missense probably benign 0.01
R4088:Slc26a9 UTSW 1 131,695,587 (GRCm39) missense possibly damaging 0.49
R4657:Slc26a9 UTSW 1 131,680,876 (GRCm39) missense probably damaging 1.00
R5005:Slc26a9 UTSW 1 131,693,625 (GRCm39) missense probably damaging 0.99
R6255:Slc26a9 UTSW 1 131,691,647 (GRCm39) missense probably benign 0.00
R6418:Slc26a9 UTSW 1 131,686,228 (GRCm39) missense probably benign 0.06
R6442:Slc26a9 UTSW 1 131,686,555 (GRCm39) missense possibly damaging 0.58
R6674:Slc26a9 UTSW 1 131,692,756 (GRCm39) missense probably benign 0.01
R6719:Slc26a9 UTSW 1 131,689,523 (GRCm39) missense probably benign 0.13
R7202:Slc26a9 UTSW 1 131,690,526 (GRCm39) missense possibly damaging 0.77
R7214:Slc26a9 UTSW 1 131,687,211 (GRCm39) missense probably damaging 0.99
R7238:Slc26a9 UTSW 1 131,686,556 (GRCm39) nonsense probably null
R7389:Slc26a9 UTSW 1 131,696,986 (GRCm39) makesense probably null
R7439:Slc26a9 UTSW 1 131,690,556 (GRCm39) missense probably damaging 1.00
R7470:Slc26a9 UTSW 1 131,691,781 (GRCm39) missense probably benign 0.33
R7515:Slc26a9 UTSW 1 131,681,711 (GRCm39) missense probably damaging 0.99
R7652:Slc26a9 UTSW 1 131,691,634 (GRCm39) missense probably benign 0.06
R7655:Slc26a9 UTSW 1 131,690,982 (GRCm39) missense possibly damaging 0.88
R7656:Slc26a9 UTSW 1 131,690,982 (GRCm39) missense possibly damaging 0.88
R8278:Slc26a9 UTSW 1 131,689,514 (GRCm39) missense possibly damaging 0.48
R8790:Slc26a9 UTSW 1 131,683,155 (GRCm39) missense probably damaging 1.00
R9064:Slc26a9 UTSW 1 131,680,703 (GRCm39) missense probably benign
R9639:Slc26a9 UTSW 1 131,678,409 (GRCm39) missense probably damaging 0.98
R9670:Slc26a9 UTSW 1 131,681,688 (GRCm39) missense probably benign 0.00
R9681:Slc26a9 UTSW 1 131,681,691 (GRCm39) missense probably benign 0.01
R9775:Slc26a9 UTSW 1 131,690,970 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- GCCTACATAAGAGCAGGAGTC -3'
(R):5'- GCCTGAAGATCTCTGAGTTGG -3'

Sequencing Primer
(F):5'- GGCTCGCAACCATCTGTAATGAG -3'
(R):5'- CCTGAAGATCTCTGAGTTGGCAAAG -3'
Posted On 2019-10-07