Incidental Mutation 'R7655:Slc26a9'
ID 591110
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 045731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R7655 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 131671760-131699242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131690982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 587 (F587I)
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: F587I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: F587I

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
Meta Mutation Damage Score 0.0912 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram A G 4: 56,804,218 (GRCm39) I78V probably benign Het
Acot2 A G 12: 84,039,691 (GRCm39) Y400C probably benign Het
Agbl1 A G 7: 76,059,080 (GRCm39) M237V Het
Atrnl1 C A 19: 57,599,811 (GRCm39) S9* probably null Het
BC031181 A T 18: 75,142,406 (GRCm39) K71* probably null Het
Bmal2 A G 6: 146,707,940 (GRCm39) T21A probably benign Het
Brpf1 A T 6: 113,291,835 (GRCm39) M294L probably benign Het
Camk2g T G 14: 20,789,410 (GRCm39) D382A possibly damaging Het
Ccdc33 T A 9: 58,025,748 (GRCm39) R94W probably damaging Het
Cd244a T A 1: 171,404,823 (GRCm39) L225Q probably damaging Het
Chsy1 G T 7: 65,820,778 (GRCm39) V338F probably damaging Het
Col14a1 A G 15: 55,225,846 (GRCm39) I170V unknown Het
Col6a2 G T 10: 76,443,590 (GRCm39) Q492K probably benign Het
Dnah12 G T 14: 26,581,273 (GRCm39) V3168L probably benign Het
Dnah7a T C 1: 53,535,164 (GRCm39) S2699G possibly damaging Het
Fsip2 A G 2: 82,807,886 (GRCm39) K1402E possibly damaging Het
Ghdc C T 11: 100,660,493 (GRCm39) A127T probably benign Het
Glp1r T C 17: 31,149,572 (GRCm39) probably null Het
Gm19410 A T 8: 36,276,253 (GRCm39) M1637L probably benign Het
Grm5 T G 7: 87,779,459 (GRCm39) D998E probably benign Het
Krtcap3 A G 5: 31,409,904 (GRCm39) T157A probably damaging Het
Luc7l2 A G 6: 38,580,399 (GRCm39) R333G unknown Het
Mdc1 T G 17: 36,161,773 (GRCm39) S895R probably benign Het
Mef2a G A 7: 66,945,142 (GRCm39) T80M probably damaging Het
Mitd1 T A 1: 37,924,356 (GRCm39) I65F probably benign Het
Mms19 A G 19: 41,933,011 (GRCm39) L1026P probably damaging Het
Mtbp G T 15: 55,472,922 (GRCm39) V629L unknown Het
Ncapd3 T A 9: 26,966,801 (GRCm39) I545N possibly damaging Het
Nin G A 12: 70,089,542 (GRCm39) T1291M Het
Or10z1 T A 1: 174,077,784 (GRCm39) K236N probably damaging Het
Or5b123 A T 19: 13,597,197 (GRCm39) I181F probably damaging Het
Orc3 G T 4: 34,587,032 (GRCm39) C352* probably null Het
Oxct2b G A 4: 123,011,550 (GRCm39) G490D probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Phkg2 G A 7: 127,182,074 (GRCm39) G365D probably damaging Het
Pira1 T C 7: 3,742,281 (GRCm39) E82G probably damaging Het
Ppp2r3d A T 9: 101,088,911 (GRCm39) F471I probably benign Het
Prl3d1 T C 13: 27,284,018 (GRCm39) C196R possibly damaging Het
Prmt1 A T 7: 44,633,552 (GRCm39) F14L probably benign Het
Prox1 A G 1: 189,894,418 (GRCm39) L9P probably damaging Het
Ptpn13 T A 5: 103,688,849 (GRCm39) F881I probably benign Het
Rab3ip A G 10: 116,750,044 (GRCm39) I363T probably benign Het
Rapgef3 T C 15: 97,659,090 (GRCm39) E134G probably damaging Het
Rapgef6 C T 11: 54,585,279 (GRCm39) P1559L probably benign Het
Rnf180 T C 13: 105,304,096 (GRCm39) K507E probably damaging Het
Rpl3l T C 17: 24,949,960 (GRCm39) I53T probably benign Het
Rtl1 T C 12: 109,557,442 (GRCm39) I1466V unknown Het
Saxo2 A G 7: 82,284,559 (GRCm39) Y100H probably damaging Het
Selenoh G T 2: 84,500,724 (GRCm39) R39S probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Smoc1 A T 12: 81,152,682 (GRCm39) Q91L possibly damaging Het
Spag9 A C 11: 93,887,389 (GRCm39) H98P possibly damaging Het
Spata31e3 T G 13: 50,401,122 (GRCm39) K401N probably benign Het
T2 T A 17: 8,637,047 (GRCm39) C337* probably null Het
Tbc1d19 A G 5: 54,054,377 (GRCm39) Y455C probably damaging Het
Thbd A G 2: 148,249,340 (GRCm39) L176P probably damaging Het
Tmem116 A G 5: 121,590,252 (GRCm39) probably null Het
Tmem25 C T 9: 44,709,640 (GRCm39) V54I possibly damaging Het
Trpm4 C T 7: 44,971,233 (GRCm39) V378I probably benign Het
Trrap G T 5: 144,779,422 (GRCm39) W3129C probably damaging Het
Ttn A T 2: 76,558,660 (GRCm39) D29740E probably damaging Het
Vcan C T 13: 89,833,233 (GRCm39) C3073Y probably damaging Het
Xrra1 T A 7: 99,560,189 (GRCm39) D388E 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
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'- CATCCTTGCTGACCAGAAGG -3'
(R):5'- CATTGAAGATGGGGTGCACTG -3'

Sequencing Primer
(F):5'- GGGCTGAAAAGAGAGTGACC -3'
(R):5'- TGGTACCCAGGAGCTGACAG -3'
Posted On 2019-11-12