Incidental Mutation 'IGL01359:Slc26a11'
ID75652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc26a11
Ensembl Gene ENSMUSG00000039908
Gene Namesolute carrier family 26, member 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL01359
Quality Score
Status
Chromosome11
Chromosomal Location119355557-119381079 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119363431 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 192 (M192L)
Ref Sequence ENSEMBL: ENSMUSP00000050999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050880]
Predicted Effect probably benign
Transcript: ENSMUST00000050880
AA Change: M192L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: M192L

DomainStartEndE-ValueType
Pfam:Sulfate_transp 31 424 1.8e-97 PFAM
transmembrane domain 426 448 N/A INTRINSIC
Pfam:STAS 453 559 3.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151612
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 encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,310,686 E605K probably damaging Het
Adgrl4 G A 3: 151,543,286 C737Y probably damaging Het
Ankk1 A T 9: 49,416,028 I617N possibly damaging Het
B3gat2 T C 1: 23,763,220 F196L probably damaging Het
Bcl2l14 T A 6: 134,423,865 I83N probably damaging Het
Bcr T C 10: 75,159,779 probably benign Het
Ckmt2 A T 13: 91,861,820 I127N probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah11 T C 12: 117,982,999 T3117A probably damaging Het
Dnaic2 A G 11: 114,751,788 Y405C probably benign Het
Emc2 A G 15: 43,511,749 Y214C probably damaging Het
Fbxw2 T C 2: 34,822,750 T100A probably benign Het
Fkrp C T 7: 16,811,490 R149Q probably benign Het
Fsd1l A G 4: 53,659,601 R153G possibly damaging Het
Galnt4 T C 10: 99,109,597 Y395H probably damaging Het
Gk5 T C 9: 96,137,789 L126P probably damaging Het
Gm973 A G 1: 59,630,279 S830G probably benign Het
Gpc5 G A 14: 115,369,750 G255S possibly damaging Het
Grk3 C A 5: 112,937,760 S370I probably damaging Het
Herc1 A G 9: 66,439,268 D1972G probably benign Het
Itih3 T A 14: 30,917,772 D364V probably damaging Het
Lce1f G T 3: 92,719,184 C55* probably null Het
Ltn1 A C 16: 87,405,693 probably benign Het
Lyl1 C T 8: 84,702,686 A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 E3974G probably benign Het
Msl3l2 T C 10: 56,116,244 V355A probably damaging Het
Nadsyn1 T C 7: 143,821,230 I30V possibly damaging Het
Nuggc T C 14: 65,623,207 V418A probably damaging Het
Olfr1308 A T 2: 111,961,061 M4K probably benign Het
Olfr553 A T 7: 102,614,172 H272Q probably benign Het
Olfr671 T C 7: 104,975,986 probably null Het
Ppp4r3a T C 12: 101,058,496 E248G probably damaging Het
Rab3gap2 T A 1: 185,238,870 V234E probably damaging Het
Radil G A 5: 142,543,713 T105I probably damaging Het
Saa4 A G 7: 46,731,636 W21R possibly damaging Het
Sec62 G A 3: 30,814,306 S228N unknown Het
Setd4 C T 16: 93,591,239 G120S probably damaging Het
Sgpl1 G A 10: 61,100,908 T556I probably benign Het
Slc14a2 T C 18: 78,154,108 D811G probably benign Het
Spon1 A T 7: 114,034,290 Q656L probably damaging Het
Tex15 A G 8: 33,581,898 D2491G probably damaging Het
Tox T C 4: 6,697,583 T407A probably damaging Het
Ubr5 A T 15: 37,973,006 I2611N probably damaging Het
Usp25 G A 16: 77,059,253 A245T probably damaging Het
Vwa8 C A 14: 79,064,913 Y1007* probably null Het
Zfp423 T C 8: 87,780,662 H893R probably damaging Het
Zfp507 A G 7: 35,794,502 I372T probably damaging Het
Other mutations in Slc26a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Slc26a11 APN 11 119379901 missense probably benign 0.00
IGL01835:Slc26a11 APN 11 119377214 missense probably benign
R0193:Slc26a11 UTSW 11 119359314 missense probably damaging 1.00
R0362:Slc26a11 UTSW 11 119379941 splice site probably benign
R0709:Slc26a11 UTSW 11 119374777 missense probably damaging 1.00
R1800:Slc26a11 UTSW 11 119373153 missense probably damaging 0.97
R1964:Slc26a11 UTSW 11 119380194 missense possibly damaging 0.93
R4762:Slc26a11 UTSW 11 119356831 unclassified probably benign
R5153:Slc26a11 UTSW 11 119377259 missense possibly damaging 0.67
R5302:Slc26a11 UTSW 11 119363450 missense probably damaging 0.99
R5660:Slc26a11 UTSW 11 119357978 missense probably damaging 0.98
R5994:Slc26a11 UTSW 11 119379912 missense probably benign 0.14
R6025:Slc26a11 UTSW 11 119374828 missense probably damaging 1.00
R6275:Slc26a11 UTSW 11 119359299 missense probably benign 0.44
R6970:Slc26a11 UTSW 11 119356972 missense probably damaging 1.00
R6974:Slc26a11 UTSW 11 119358018 missense possibly damaging 0.82
X0026:Slc26a11 UTSW 11 119380230 missense probably benign
X0028:Slc26a11 UTSW 11 119380194 missense possibly damaging 0.93
Posted On2013-10-07