Incidental Mutation 'R9775:Slc26a9'
ID 733615
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R9775 (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 131690970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 583 (R583G)
Ref Sequence ENSEMBL: ENSMUSP00000036916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049027] [ENSMUST00000186122]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000049027
AA Change: R583G

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: R583G

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 probably benign
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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
Angptl2 G A 2: 33,118,230 (GRCm39) M1I probably null Het
Bptf T C 11: 106,934,502 (GRCm39) E223G probably benign Het
C2cd3 T A 7: 100,076,458 (GRCm39) I805N Het
Cep152 G A 2: 125,423,660 (GRCm39) Q914* probably null Het
Clasp2 A G 9: 113,725,740 (GRCm39) T794A probably benign Het
Cntnap2 A G 6: 47,026,261 (GRCm39) Y970C probably damaging Het
Ddx11 G T 17: 66,445,157 (GRCm39) V360L probably damaging Het
Fer1l6 G A 15: 58,497,098 (GRCm39) V1223I probably benign Het
Fez2 A T 17: 78,708,183 (GRCm39) I255N probably damaging Het
Gata3 A G 2: 9,863,197 (GRCm39) V439A possibly damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kcnj9 T A 1: 172,153,741 (GRCm39) I128F probably damaging Het
Klhdc2 A G 12: 69,350,393 (GRCm39) D146G probably damaging Het
Klra6 T A 6: 129,999,639 (GRCm39) R110W probably damaging Het
Ldha A T 7: 46,491,047 (GRCm39) probably benign Het
Lingo2 C A 4: 35,708,781 (GRCm39) A400S probably benign Het
Lrrd1 A T 5: 3,899,897 (GRCm39) R67S probably benign Het
Mapk6 C T 9: 75,295,668 (GRCm39) C610Y possibly damaging Het
Mia3 G A 1: 183,109,125 (GRCm39) R656* probably null Het
Myoz2 T C 3: 122,807,399 (GRCm39) E137G probably damaging Het
Nemp2 T A 1: 52,680,064 (GRCm39) I96N probably damaging Het
Npy1r A G 8: 67,157,742 (GRCm39) M351V possibly damaging Het
Nsg2 G A 11: 32,005,029 (GRCm39) S77N possibly damaging Het
Or10ag53 A G 2: 87,082,568 (GRCm39) M96V probably damaging Het
Or5ac17 T A 16: 59,036,069 (GRCm39) R302S possibly damaging Het
Or6c5c T C 10: 129,298,677 (GRCm39) I44T probably benign Het
Osbpl9 G A 4: 109,013,747 (GRCm39) probably benign Het
Pcolce2 G A 9: 95,520,797 (GRCm39) C58Y probably damaging Het
Piezo1 A G 8: 123,208,927 (GRCm39) F2480L probably damaging Het
Pip5k1c T A 10: 81,147,853 (GRCm39) D419E probably damaging Het
Plppr1 A T 4: 49,323,435 (GRCm39) T242S probably benign Het
Ppp1r13b A C 12: 111,803,457 (GRCm39) S254A possibly damaging Het
Pramel17 A G 4: 101,694,244 (GRCm39) M213T probably benign Het
Ripk3 A G 14: 56,023,252 (GRCm39) L151S unknown Het
Scmh1 A T 4: 120,340,820 (GRCm39) M169L probably benign Het
Serpinb9d A T 13: 33,382,007 (GRCm39) R159W probably damaging Het
Smim8 T C 4: 34,769,068 (GRCm39) E72G probably damaging Het
Sned1 A G 1: 93,199,604 (GRCm39) N511S probably damaging Het
Srprb A C 9: 103,078,490 (GRCm39) V80G probably benign Het
Ssx2ip G A 3: 146,136,808 (GRCm39) S352N probably benign Het
Tbccd1 A G 16: 22,652,666 (GRCm39) S152P probably damaging Het
Tenm4 T C 7: 96,555,761 (GRCm39) I2822T possibly damaging Het
Tff1 A G 17: 31,383,972 (GRCm39) V8A probably benign Het
Tmem132b T A 5: 125,864,566 (GRCm39) S891T probably benign Het
Tmem200c T A 17: 69,149,118 (GRCm39) V567D probably damaging Het
Trim3 G A 7: 105,260,377 (GRCm39) T708M probably damaging Het
Ttn T C 2: 76,544,927 (GRCm39) N32725S possibly damaging Het
Ubash3b T G 9: 40,926,214 (GRCm39) E633A possibly damaging Het
Usp4 A G 9: 108,239,780 (GRCm39) R170G probably damaging Het
Wdr33 T A 18: 32,037,406 (GRCm39) L1222Q unknown Het
Zfhx2 A G 14: 55,304,562 (GRCm39) S1141P probably benign 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
R7441: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
Predicted Primers PCR Primer
(F):5'- CCATCCTTGCTGACCAGAAG -3'
(R):5'- AAGATGGGGTGCACTGGTAC -3'

Sequencing Primer
(F):5'- TTGCTGACCAGAAGGGCTG -3'
(R):5'- TGGTACCCAGGAGCTGACAG -3'
Posted On 2022-11-14