Incidental Mutation 'R7470:Slc26a9'
ID 579080
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 045544-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 131671760-131699242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 131691781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 675 (V675L)
Ref Sequence ENSEMBL: ENSMUSP00000036916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049027] [ENSMUST00000186122]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000049027
AA Change: V675L

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: V675L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Actn3 G A 19: 4,917,842 (GRCm39) S375L possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Afm T A 5: 90,679,486 (GRCm39) S327T probably damaging Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pah G A 10: 87,399,286 (GRCm39) R155Q probably damaging Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Selenon A C 4: 134,267,061 (GRCm39) S514A probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc5a7 A T 17: 54,583,990 (GRCm39) Y433* probably null Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ttf2 T G 3: 100,870,478 (GRCm39) Q198H possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T 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
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'- AAAGTGCTCCCTCTACTGACC -3'
(R):5'- GTCCTCAACTTGCACTGAAGAG -3'

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