Incidental Mutation 'R5302:Slc26a11'
ID 404309
Institutional Source Beutler Lab
Gene Symbol Slc26a11
Ensembl Gene ENSMUSG00000039908
Gene Name solute carrier family 26, member 11
Synonyms F630021I08Rik
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 119246383-119271905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119254276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 198 (L198P)
Ref Sequence ENSEMBL: ENSMUSP00000050999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050880]
AlphaFold Q80ZD3
Predicted Effect probably damaging
Transcript: ENSMUST00000050880
AA Change: L198P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: L198P

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc44a3 A G 3: 121,303,962 (GRCm39) V258A probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging 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
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
R8459:Slc26a11 UTSW 11 119,259,643 (GRCm39) missense possibly damaging 0.88
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'- GCCATAAACTGAGCCCATGC -3'
(R):5'- CTGTGTCTTCAGCTCAGCATAG -3'

Sequencing Primer
(F):5'- ATGCTGACTGCCCGCCTC -3'
(R):5'- AGCATAGCTGGGAAGCCC -3'
Posted On 2016-07-22