Incidental Mutation 'R8459:Slc26a11'
ID 655191
Institutional Source Beutler Lab
Gene Symbol Slc26a11
Ensembl Gene ENSMUSG00000039908
Gene Name solute carrier family 26, member 11
Synonyms F630021I08Rik
MMRRC Submission 067836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R8459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 119246383-119271905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119259643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 280 (I280N)
Ref Sequence ENSEMBL: ENSMUSP00000050999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050880]
AlphaFold Q80ZD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050880
AA Change: I280N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: I280N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 CTTGTTGT CTTGT 1: 173,289,536 (GRCm39) probably benign Het
Ank1 T C 8: 23,605,528 (GRCm39) V1132A probably damaging Het
Bpifb9a T G 2: 154,102,153 (GRCm39) S83R probably damaging Het
Cacnb3 C T 15: 98,537,393 (GRCm39) R24C probably damaging Het
Car8 C T 4: 8,189,302 (GRCm39) V171I probably benign Het
Cd200l1 T A 16: 45,238,271 (GRCm39) H294L probably benign Het
Cdk17 G C 10: 93,068,289 (GRCm39) V349L probably damaging Het
Celsr3 A G 9: 108,706,829 (GRCm39) E1104G probably damaging Het
Chml T C 1: 175,515,597 (GRCm39) D108G probably benign Het
Cluap1 T C 16: 3,755,453 (GRCm39) M356T probably damaging Het
Cmtm1 A G 8: 105,036,143 (GRCm39) V162A possibly damaging Het
Cryge T C 1: 65,087,841 (GRCm39) D156G possibly damaging Het
Disc1 A C 8: 125,891,894 (GRCm39) D649A possibly damaging Het
Dnah8 T C 17: 30,944,221 (GRCm39) probably null Het
Dpp7 C A 2: 25,242,550 (GRCm39) V468F probably damaging Het
Ecpas A G 4: 58,821,379 (GRCm39) V1207A probably damaging Het
Ep400 A G 5: 110,856,757 (GRCm39) F1163S unknown Het
Fbrs C T 7: 127,082,329 (GRCm39) R327W probably damaging Het
Fsip2 T A 2: 82,810,022 (GRCm39) Y2114N possibly damaging Het
Gnas A T 2: 174,126,732 (GRCm39) H89L probably benign Het
Gstt1 G A 10: 75,629,943 (GRCm39) R107W probably damaging Het
Hal A G 10: 93,352,177 (GRCm39) D656G probably benign Het
Htra3 G A 5: 35,828,569 (GRCm39) probably benign Het
Ighv1-64 G A 12: 115,471,256 (GRCm39) A87V probably benign Het
Itga3 A G 11: 94,959,633 (GRCm39) V80A probably benign Het
Lrrc58 A G 16: 37,698,872 (GRCm39) N280D probably benign Het
Macf1 T C 4: 123,374,107 (GRCm39) E1501G possibly damaging Het
Madd A G 2: 90,992,871 (GRCm39) I1016T probably benign Het
Mbnl1 T G 3: 60,529,628 (GRCm39) S260R probably damaging Het
Or5h17 A T 16: 58,820,348 (GRCm39) Q100L probably damaging Het
Phip G T 9: 82,758,106 (GRCm39) A1529D probably benign Het
Pramel58 A G 5: 94,830,742 (GRCm39) D80G probably damaging Het
Prorsd1 T C 11: 29,463,286 (GRCm39) T159A probably damaging Het
Sh3tc1 C A 5: 35,878,933 (GRCm39) R67L probably benign Het
Skint5 A T 4: 113,703,481 (GRCm39) L518* probably null Het
Spata16 A G 3: 26,721,676 (GRCm39) T66A probably benign Het
Syne1 G A 10: 5,374,277 (GRCm39) R177* probably null Het
Vmn1r16 A C 6: 57,300,347 (GRCm39) C92G probably benign Het
Vmn1r50 A G 6: 90,084,235 (GRCm39) probably benign Het
Other mutations in Slc26a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Slc26a11 APN 11 119,270,727 (GRCm39) missense probably benign 0.00
IGL01359:Slc26a11 APN 11 119,254,257 (GRCm39) missense probably benign 0.00
IGL01835:Slc26a11 APN 11 119,268,040 (GRCm39) missense probably benign
R0193:Slc26a11 UTSW 11 119,250,140 (GRCm39) missense probably damaging 1.00
R0362:Slc26a11 UTSW 11 119,270,767 (GRCm39) splice site probably benign
R0709:Slc26a11 UTSW 11 119,265,603 (GRCm39) missense probably damaging 1.00
R1800:Slc26a11 UTSW 11 119,263,979 (GRCm39) missense probably damaging 0.97
R1964:Slc26a11 UTSW 11 119,271,020 (GRCm39) missense possibly damaging 0.93
R4762:Slc26a11 UTSW 11 119,247,657 (GRCm39) unclassified probably benign
R5153:Slc26a11 UTSW 11 119,268,085 (GRCm39) missense possibly damaging 0.67
R5302:Slc26a11 UTSW 11 119,254,276 (GRCm39) missense probably damaging 0.99
R5660:Slc26a11 UTSW 11 119,248,804 (GRCm39) missense probably damaging 0.98
R5994:Slc26a11 UTSW 11 119,270,738 (GRCm39) missense probably benign 0.14
R6025:Slc26a11 UTSW 11 119,265,654 (GRCm39) missense probably damaging 1.00
R6275:Slc26a11 UTSW 11 119,250,125 (GRCm39) missense probably benign 0.44
R6970:Slc26a11 UTSW 11 119,247,798 (GRCm39) missense probably damaging 1.00
R6974:Slc26a11 UTSW 11 119,248,844 (GRCm39) missense possibly damaging 0.82
R7466:Slc26a11 UTSW 11 119,265,328 (GRCm39) missense probably damaging 0.99
R8210:Slc26a11 UTSW 11 119,270,692 (GRCm39) missense possibly damaging 0.84
R9238:Slc26a11 UTSW 11 119,265,733 (GRCm39) critical splice donor site probably null
R9324:Slc26a11 UTSW 11 119,267,730 (GRCm39) missense probably benign 0.00
R9393:Slc26a11 UTSW 11 119,259,627 (GRCm39) missense probably benign
X0026:Slc26a11 UTSW 11 119,271,056 (GRCm39) missense probably benign
X0028:Slc26a11 UTSW 11 119,271,020 (GRCm39) missense possibly damaging 0.93
Z1177:Slc26a11 UTSW 11 119,247,785 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- AAAACAGACTGGGGCTCACC -3'
(R):5'- GAACCTGGCTAGTGCATCCTTTC -3'

Sequencing Primer
(F):5'- GGGGCTCACCAGTCTCTTC -3'
(R):5'- TTTCCCGGTGTCCAAAGAAG -3'
Posted On 2020-10-20