Incidental Mutation 'R8210:Slc26a11'
ID 636134
Institutional Source Beutler Lab
Gene Symbol Slc26a11
Ensembl Gene ENSMUSG00000039908
Gene Name solute carrier family 26, member 11
Synonyms F630021I08Rik
MMRRC Submission 067633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R8210 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 119246383-119271905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119270692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 538 (V538A)
Ref Sequence ENSEMBL: ENSMUSP00000050999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050880]
AlphaFold Q80ZD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050880
AA Change: V538A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: V538A

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: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,517,083 (GRCm39) P577S probably damaging Het
Adal T C 2: 120,985,236 (GRCm39) V269A possibly damaging Het
Adam33 T C 2: 130,898,250 (GRCm39) T155A probably benign Het
Adgre1 A T 17: 57,752,061 (GRCm39) E603V possibly damaging Het
Adgrf4 T C 17: 42,978,441 (GRCm39) T301A probably damaging Het
Agtpbp1 G T 13: 59,630,385 (GRCm39) A782E possibly damaging Het
Ank3 A T 10: 69,811,925 (GRCm39) K1197N possibly damaging Het
Anxa9 A T 3: 95,213,207 (GRCm39) D46E probably damaging Het
Atg9a T C 1: 75,161,927 (GRCm39) T540A probably damaging Het
Atg9a A G 1: 75,163,009 (GRCm39) Y364H probably damaging Het
Bltp1 A C 3: 37,067,030 (GRCm39) E73A Het
Cd300c2 C T 11: 114,891,634 (GRCm39) G80D possibly damaging Het
Cebpz T C 17: 79,230,685 (GRCm39) E844G probably benign Het
Celsr1 T C 15: 85,863,436 (GRCm39) I1199V probably benign Het
Cftr A G 6: 18,220,696 (GRCm39) N189S probably damaging Het
Dhrs13 G T 11: 77,924,302 (GRCm39) R116I unknown Het
Dnah10 A G 5: 124,827,858 (GRCm39) M735V probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
E130208F15Rik C A 7: 30,021,619 (GRCm39) S93* probably null Het
E330034G19Rik T C 14: 24,346,104 (GRCm39) I92T Het
Eef1d A T 15: 75,768,309 (GRCm39) V511D probably damaging Het
Efna1 T G 3: 89,183,520 (GRCm39) E102A probably damaging Het
H2-M11 C A 17: 36,858,860 (GRCm39) F133L probably damaging Het
Htr3b G T 9: 48,847,343 (GRCm39) probably null Het
Kcns3 A G 12: 11,142,253 (GRCm39) S149P probably damaging Het
Lhx4 T A 1: 155,586,214 (GRCm39) probably null Het
Lrp1 C T 10: 127,412,354 (GRCm39) V1317M probably damaging Het
Mphosph9 A G 5: 124,405,174 (GRCm39) I799T probably damaging Het
Muc1 C T 3: 89,138,906 (GRCm39) A505V probably damaging Het
Muc6 C A 7: 141,235,673 (GRCm39) probably null Het
Mylk A G 16: 34,820,721 (GRCm39) D1891G probably damaging Het
Nfe2l3 A T 6: 51,428,065 (GRCm39) H209L probably benign Het
Nprl2 A C 9: 107,421,947 (GRCm39) Y241S probably damaging Het
Oprm1 A T 10: 6,780,442 (GRCm39) Q368L probably benign Het
Or4g7 T A 2: 111,309,753 (GRCm39) M208K possibly damaging Het
Pcm1 C T 8: 41,766,974 (GRCm39) R1593C probably damaging Het
Pitpnm1 T C 19: 4,162,878 (GRCm39) probably null Het
Pnoc A G 14: 65,642,521 (GRCm39) S81P probably benign Het
Prkg2 T A 5: 99,114,393 (GRCm39) D585V probably damaging Het
Prpf38b A T 3: 108,815,148 (GRCm39) probably benign Het
Ranbp3l G T 15: 9,065,059 (GRCm39) S482I probably benign Het
Rapgef4 T C 2: 72,056,364 (GRCm39) F651L probably benign Het
Rasgrf1 A G 9: 89,793,675 (GRCm39) T151A unknown Het
Rnf215 T C 11: 4,085,544 (GRCm39) L91P possibly damaging Het
Rph3a T C 5: 121,099,312 (GRCm39) H193R probably benign Het
Rps17 C T 7: 80,994,750 (GRCm39) V4I probably benign Het
Sec61a2 A T 2: 5,881,728 (GRCm39) F234Y possibly damaging Het
Serpinb8 T C 1: 107,526,736 (GRCm39) L92P probably damaging Het
Slc1a6 A T 10: 78,632,091 (GRCm39) I306F possibly damaging Het
Slc27a1 G A 8: 72,032,566 (GRCm39) S193N probably benign Het
Slc9b1 T C 3: 135,097,948 (GRCm39) S393P probably damaging Het
Slfn3 T A 11: 83,105,332 (GRCm39) I320K possibly damaging Het
Spata31f1a T A 4: 42,848,542 (GRCm39) M1205L probably benign Het
Tgfbr1 A T 4: 47,406,924 (GRCm39) I420F probably benign Het
Tnik A T 3: 28,658,482 (GRCm39) D589V possibly damaging Het
Trappc8 A C 18: 21,006,938 (GRCm39) probably null Het
Ttbk1 A G 17: 46,791,087 (GRCm39) S66P possibly damaging Het
Unc13c A G 9: 73,392,220 (GRCm39) V2044A probably benign Het
Usp53 T C 3: 122,741,045 (GRCm39) E735G probably benign Het
Vmn2r-ps158 T A 7: 42,673,462 (GRCm39) N180K probably benign Het
Zfyve26 A T 12: 79,302,037 (GRCm39) V1853D probably damaging Het
Zkscan17 A G 11: 59,394,574 (GRCm39) V9A probably 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
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
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'- CTCTGTCCATTCAAGCTGAAGTAG -3'
(R):5'- TCTGGTATCGGGGCAGAAAG -3'

Sequencing Primer
(F):5'- CCCTTGGTGATAATGGACTGAACC -3'
(R):5'- CAGAAAGGGTGGGCCTGC -3'
Posted On 2020-07-13