Incidental Mutation 'R6275:Slc26a11'
ID 507593
Institutional Source Beutler Lab
Gene Symbol Slc26a11
Ensembl Gene ENSMUSG00000039908
Gene Name solute carrier family 26, member 11
Synonyms F630021I08Rik
MMRRC Submission 044445-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R6275 (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 119250125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 127 (F127L)
Ref Sequence ENSEMBL: ENSMUSP00000050999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005173] [ENSMUST00000050880] [ENSMUST00000100172] [ENSMUST00000136523]
AlphaFold Q80ZD3
Predicted Effect probably benign
Transcript: ENSMUST00000005173
SMART Domains Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
Pfam:Sulfatase 23 328 2.6e-60 PFAM
Pfam:Phosphodiest 25 287 5.2e-8 PFAM
low complexity region 348 357 N/A INTRINSIC
Pfam:DUF4976 400 477 1.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050880
AA Change: F127L

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050999
Gene: ENSMUSG00000039908
AA Change: F127L

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 probably benign
Transcript: ENSMUST00000100172
SMART Domains Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
Pfam:Sulfatase 23 250 1.7e-35 PFAM
Pfam:Phosphodiest 25 237 2.7e-8 PFAM
low complexity region 311 329 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133507
Predicted Effect probably benign
Transcript: ENSMUST00000136523
SMART Domains Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043

DomainStartEndE-ValueType
PDB:4MIV|H 1 30 1e-5 PDB
low complexity region 40 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151612
Meta Mutation Damage Score 0.1926 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,833,625 (GRCm39) L30H probably damaging Het
Abcb6 T C 1: 75,149,195 (GRCm39) probably null Het
Acsbg1 T A 9: 54,517,056 (GRCm39) M586L probably benign Het
Ano6 A T 15: 95,811,314 (GRCm39) Y159F probably damaging Het
C1ql1 A G 11: 102,830,575 (GRCm39) I254T probably damaging Het
Ccdc81 T C 7: 89,531,519 (GRCm39) D318G possibly damaging Het
Ccr7 C T 11: 99,036,489 (GRCm39) M144I probably damaging Het
Cdca3 C T 6: 124,809,627 (GRCm39) probably null Het
Ces1h A T 8: 94,099,274 (GRCm39) L93I probably benign Het
Cntfr T C 4: 41,663,216 (GRCm39) D197G possibly damaging Het
Cyp2d12 C A 15: 82,440,859 (GRCm39) P126T probably benign Het
Dnah10 A G 5: 124,862,248 (GRCm39) T2225A probably damaging Het
Edrf1 A T 7: 133,269,311 (GRCm39) N1147Y possibly damaging Het
Eif1ad15 T C 12: 88,287,995 (GRCm39) D86G possibly damaging Het
Eif1ad16 T C 12: 87,985,255 (GRCm39) N96S probably benign Het
Ermap C T 4: 119,035,747 (GRCm39) V414M probably damaging Het
Fam13a A G 6: 58,931,242 (GRCm39) I446T probably damaging Het
Fgfbp3 T C 19: 36,896,153 (GRCm39) H155R possibly damaging Het
Folr1 T A 7: 101,508,742 (GRCm39) N61I probably damaging Het
Fsip1 T C 2: 118,035,583 (GRCm39) I431V probably benign Het
Gm5493 A T 17: 22,969,043 (GRCm39) E74D probably benign Het
H2-Oa A G 17: 34,313,540 (GRCm39) D197G probably benign Het
Hps1 T C 19: 42,758,046 (GRCm39) E169G probably null Het
Il17rc A T 6: 113,457,308 (GRCm39) M372L probably benign Het
Itga10 A G 3: 96,565,501 (GRCm39) S1042G probably benign Het
Jchain A T 5: 88,669,212 (GRCm39) V147E probably damaging Het
Laptm4b A G 15: 34,283,473 (GRCm39) T211A probably benign Het
Mal2 T C 15: 54,435,035 (GRCm39) probably null Het
Mov10l1 T A 15: 88,910,823 (GRCm39) I1071N probably damaging Het
Mpp2 T A 11: 101,951,795 (GRCm39) Y401F probably damaging Het
Myh15 A G 16: 48,965,610 (GRCm39) T1172A probably benign Het
Or51q1 T A 7: 103,629,181 (GRCm39) S261T probably damaging Het
Pcnx1 G T 12: 81,965,381 (GRCm39) S516I probably benign Het
Pidd1 C T 7: 141,019,708 (GRCm39) A685T probably damaging Het
Psg28 A C 7: 18,164,365 (GRCm39) Y116D probably damaging Het
Psmd11 T C 11: 80,329,458 (GRCm39) probably benign Het
Rapgefl1 T A 11: 98,741,946 (GRCm39) Y637N probably damaging Het
Rbm25 T A 12: 83,691,206 (GRCm39) M66K probably damaging Het
Rnf38 T A 4: 44,152,408 (GRCm39) H52L probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGTGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Sec62 A G 3: 30,863,985 (GRCm39) Q89R probably damaging Het
Serpina6 T A 12: 103,614,979 (GRCm39) Q289L probably benign Het
Sf3b2 A C 19: 5,333,678 (GRCm39) I640S probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Spata31h1 T C 10: 82,121,202 (GRCm39) D3936G probably damaging Het
Stac3 T A 10: 127,343,615 (GRCm39) Y252* probably null Het
Stoml3 G A 3: 53,414,927 (GRCm39) A240T probably damaging Het
Tanc1 A T 2: 59,673,854 (GRCm39) H1653L probably benign Het
Tll1 A T 8: 64,504,401 (GRCm39) L665* probably null Het
Tnr A C 1: 159,688,840 (GRCm39) Q434P probably damaging Het
Tpgs1 C A 10: 79,511,354 (GRCm39) D165E probably benign Het
Tsc2 A G 17: 24,819,394 (GRCm39) V1185A probably benign Het
Tulp4 A G 17: 6,249,011 (GRCm39) H203R probably damaging Het
Txnl4a T A 18: 80,261,980 (GRCm39) M72K possibly damaging Het
Usp42 G A 5: 143,700,727 (GRCm39) R1099W probably damaging Het
Zfp292 G A 4: 34,808,883 (GRCm39) A1387V possibly damaging Het
Zfp994 A T 17: 22,418,972 (GRCm39) L659* probably null 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
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'- AAACTCACATAGGCACGCGG -3'
(R):5'- GGAATGTGCTTCTTGGTCCACAG -3'

Sequencing Primer
(F):5'- TAGGCACGCGGGCACAC -3'
(R):5'- TCTTGGTCCACAGTGAACAG -3'
Posted On 2018-03-15