Incidental Mutation 'IGL01845:Slc26a9'
ID 178207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc26a9
Ensembl Gene ENSMUSG00000042268
Gene Name solute carrier family 26, member 9
Synonyms anion transporter/exchanger-9, E030002L01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.805) question?
Stock # IGL01845
Quality Score
Status
Chromosome 1
Chromosomal Location 131671760-131699242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 131685256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 325 (D325Y)
Ref Sequence ENSEMBL: ENSMUSP00000141171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049027] [ENSMUST00000147800] [ENSMUST00000186122]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000049027
AA Change: D362Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036916
Gene: ENSMUSG00000042268
AA Change: D362Y

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: ENSMUST00000147800
SMART Domains Protein: ENSMUSP00000122075
Gene: ENSMUSG00000042268

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 56 139 5.1e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186122
AA Change: D325Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141171
Gene: ENSMUSG00000042268
AA Change: D325Y

DomainStartEndE-ValueType
Pfam:Sulfate_transp 150 428 9.6e-58 PFAM
low complexity region 453 462 N/A INTRINSIC
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 15,164,380 (GRCm39) L169P probably damaging Het
4933405L10Rik C A 8: 106,435,567 (GRCm39) A75E probably benign Het
Abca1 A G 4: 53,090,297 (GRCm39) L384P probably damaging Het
Acox2 C A 14: 8,251,617 (GRCm38) M293I probably damaging Het
Acp6 A G 3: 97,081,123 (GRCm39) S288G probably benign Het
Arhgef12 T A 9: 42,934,137 (GRCm39) H127L possibly damaging Het
Arid2 T G 15: 96,254,678 (GRCm39) F175V probably damaging Het
Ccdc15 G A 9: 37,226,532 (GRCm39) Q468* probably null Het
Ccdc93 T C 1: 121,390,859 (GRCm39) I277T probably damaging Het
Cdh8 T C 8: 99,825,586 (GRCm39) probably benign Het
Cdipt T C 7: 126,578,725 (GRCm39) S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 (GRCm39) N268S possibly damaging Het
Clcn3 A T 8: 61,366,129 (GRCm39) N814K probably benign Het
Col6a3 T C 1: 90,724,293 (GRCm39) D2019G probably damaging Het
Corin C A 5: 72,511,282 (GRCm39) G432C probably damaging Het
Crppa A G 12: 36,597,918 (GRCm39) R350G probably benign Het
Cyld C T 8: 89,432,403 (GRCm39) Q134* probably null Het
Dhh C A 15: 98,795,864 (GRCm39) R97L probably damaging Het
Dnah5 T C 15: 28,449,315 (GRCm39) V4239A probably benign Het
Dock2 T C 11: 34,599,692 (GRCm39) I296V probably benign Het
Gabbr1 T C 17: 37,359,306 (GRCm39) probably benign Het
Gbp10 T C 5: 105,367,815 (GRCm39) probably null Het
Itgam T A 7: 127,711,644 (GRCm39) L753Q probably damaging Het
Kbtbd12 A G 6: 88,590,922 (GRCm39) V430A probably benign Het
Kdm4a A G 4: 118,017,656 (GRCm39) V470A possibly damaging Het
Larp1b A T 3: 40,924,960 (GRCm39) T146S probably benign Het
Lrrfip2 T A 9: 111,028,728 (GRCm39) probably benign Het
Mier2 A T 10: 79,385,418 (GRCm39) C137S possibly damaging Het
Morc3 A G 16: 93,657,455 (GRCm39) Y393C probably damaging Het
Ms4a7 A T 19: 11,299,751 (GRCm39) M217K possibly damaging Het
Msl1 A G 11: 98,696,191 (GRCm39) probably null Het
Myh2 A G 11: 67,083,860 (GRCm39) E1546G probably benign Het
Nlgn2 A G 11: 69,716,675 (GRCm39) L622P possibly damaging Het
Oga T A 19: 45,756,301 (GRCm39) E447D probably benign Het
Or10q3 A G 19: 11,847,888 (GRCm39) S231P probably benign Het
Or1e33 A G 11: 73,738,298 (GRCm39) Y218H probably damaging Het
Or1j11 A C 2: 36,312,105 (GRCm39) K232Q probably benign Het
Or56b1b T A 7: 108,164,343 (GRCm39) I220L possibly damaging Het
Or5k17 T C 16: 58,746,929 (GRCm39) M2V probably benign Het
Phf20 C A 2: 156,118,577 (GRCm39) S427* probably null Het
Pirt G A 11: 66,816,794 (GRCm39) S35N probably damaging Het
Prss28 C A 17: 25,529,011 (GRCm39) N117K possibly damaging Het
Rbbp8nl A G 2: 179,925,104 (GRCm39) C34R probably damaging Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Sema5a T C 15: 32,474,514 (GRCm39) probably benign Het
Sh3bp2 T A 5: 34,713,347 (GRCm39) L196Q probably damaging Het
Slc4a1 A G 11: 102,244,729 (GRCm39) V622A probably benign Het
Thbd A G 2: 148,249,016 (GRCm39) V284A probably benign Het
Tmc5 T C 7: 118,251,733 (GRCm39) F609L possibly damaging Het
Tnr T C 1: 159,695,576 (GRCm39) probably benign Het
Ttc17 A T 2: 94,163,177 (GRCm39) Y881* probably null Het
Ttc41 A T 10: 86,612,488 (GRCm39) T1254S probably benign Het
Ttn C T 2: 76,640,347 (GRCm39) D13754N probably damaging Het
Vmn2r16 T A 5: 109,511,762 (GRCm39) F656L probably damaging Het
Wdr19 A G 5: 65,382,709 (GRCm39) I478V probably damaging Het
Zan T C 5: 137,379,116 (GRCm39) probably benign Het
Zp2 T A 7: 119,737,414 (GRCm39) D258V 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
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
R9775:Slc26a9 UTSW 1 131,690,970 (GRCm39) missense possibly damaging 0.67
Posted On 2014-05-07