Incidental Mutation 'R4088:Slc26a9'
ID 317446
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 040981-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R4088 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 131671760-131699242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131695587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 765 (E765G)
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: E765G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: E765G

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 0.0756 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik T C 1: 181,055,274 (GRCm39) noncoding transcript Het
Alox12b G T 11: 69,049,211 (GRCm39) V87L probably benign Het
Arsk T G 13: 76,246,533 (GRCm39) N32T probably benign Het
Baz1b T A 5: 135,245,794 (GRCm39) N414K probably damaging Het
Cacna1e A T 1: 154,287,929 (GRCm39) probably null Het
Cdc73 A G 1: 143,484,252 (GRCm39) probably benign Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cyp2b9 T C 7: 25,872,881 (GRCm39) L8P probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dnajc6 T A 4: 101,496,593 (GRCm39) V920E probably damaging Het
Eef2kmt A T 16: 5,070,899 (GRCm39) I50N probably damaging Het
Esyt3 T C 9: 99,206,290 (GRCm39) M40V probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr26 G T 7: 131,568,805 (GRCm39) C50F probably benign Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Hsdl2 T A 4: 59,610,636 (GRCm39) L211Q unknown Het
Khdrbs2 A G 1: 32,372,605 (GRCm39) E93G probably damaging Het
Kif13b T C 14: 65,004,904 (GRCm39) probably null Het
Kif15 T A 9: 122,815,254 (GRCm39) L423I probably benign Het
Kmt2c A G 5: 25,492,711 (GRCm39) V834A probably benign Het
Lama3 T A 18: 12,637,365 (GRCm39) Y28* probably null Het
Map4k2 A T 19: 6,403,186 (GRCm39) H763L probably damaging Het
Mrtfb T C 16: 13,202,064 (GRCm39) F120S probably damaging Het
Ndufs3 C T 2: 90,728,689 (GRCm39) probably benign Het
Nfasc A T 1: 132,523,329 (GRCm39) V887E probably damaging Het
Npsr1 G A 9: 24,225,065 (GRCm39) E358K possibly damaging Het
Nrcam T C 12: 44,618,985 (GRCm39) L828P possibly damaging Het
Oprm1 T C 10: 6,780,234 (GRCm39) Y299H probably damaging Het
Or1j15 T A 2: 36,459,030 (GRCm39) L140H probably damaging Het
Osbpl8 T C 10: 111,125,651 (GRCm39) V777A possibly damaging Het
Pcnt T C 10: 76,263,848 (GRCm39) E372G probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Sbk2 T C 7: 4,960,627 (GRCm39) Y181C probably damaging Het
Sf1 G A 19: 6,418,470 (GRCm39) probably null Het
Stab2 A G 10: 86,758,049 (GRCm39) L1073P probably damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar3 A G 10: 23,825,757 (GRCm39) D101G possibly damaging Het
Thsd4 T C 9: 59,904,505 (GRCm39) R204G probably benign Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Ttn G A 2: 76,748,114 (GRCm39) Q4312* probably null Het
Ubtfl1 T C 9: 18,321,264 (GRCm39) V264A probably damaging Het
Vmn1r58 C A 7: 5,413,654 (GRCm39) W192L probably damaging Het
Washc5 C A 15: 59,211,711 (GRCm39) C969F probably damaging Het
Zdhhc14 A G 17: 5,777,131 (GRCm39) K296R probably benign Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp9 G T 6: 118,441,730 (GRCm39) P311T probably damaging 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
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
R9775:Slc26a9 UTSW 1 131,690,970 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TGTGCTGTATCATGAGGCAGAG -3'
(R):5'- GCTACCTCATTCCATAGGATACCC -3'

Sequencing Primer
(F):5'- CTGTATCATGAGGCAGAGGAGGG -3'
(R):5'- CCCCTGTGTGTATTGATGCTAAGAAG -3'
Posted On 2015-05-15