Incidental Mutation 'R0152:Slc26a4'
ID 22798
Institutional Source Beutler Lab
Gene Symbol Slc26a4
Ensembl Gene ENSMUSG00000020651
Gene Name solute carrier family 26, member 4
Synonyms pendrin, Pds
MMRRC Submission 038435-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0152 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 31569826-31609968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31579497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 588 (I588M)
Ref Sequence ENSEMBL: ENSMUSP00000001253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001253]
AlphaFold Q9R155
Predicted Effect probably damaging
Transcript: ENSMUST00000001253
AA Change: I588M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651
AA Change: I588M

DomainStartEndE-ValueType
low complexity region 33 47 N/A INTRINSIC
Pfam:Sulfate_transp 84 485 1e-105 PFAM
low complexity region 492 507 N/A INTRINSIC
Pfam:STAS 536 725 1.4e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218992
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 87% (40/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,688 (GRCm39) D834G probably damaging Het
Abca13 T A 11: 9,531,724 (GRCm39) H4650Q probably damaging Het
Aqr T A 2: 113,989,491 (GRCm39) T111S probably benign Het
Arfip2 G A 7: 105,286,430 (GRCm39) T124M probably damaging Het
Arhgap44 G T 11: 64,902,745 (GRCm39) A574E probably benign Het
Arhgef26 T C 3: 62,330,965 (GRCm39) S560P probably damaging Het
Car5a T A 8: 122,643,185 (GRCm39) N273I probably damaging Het
Cd4 G A 6: 124,844,709 (GRCm39) Q359* probably null Het
Cgrrf1 G A 14: 47,091,370 (GRCm39) C298Y probably damaging Het
Clip3 G A 7: 30,002,857 (GRCm39) A416T probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif3e G A 15: 43,115,632 (GRCm39) A378V possibly damaging Het
Ercc6 C G 14: 32,268,862 (GRCm39) probably benign Het
Eri2 A G 7: 119,389,606 (GRCm39) V104A probably damaging Het
Exph5 T A 9: 53,264,504 (GRCm39) probably null Het
Hmcn1 A T 1: 150,539,630 (GRCm39) Y2954N probably benign Het
Itga2 C T 13: 115,002,850 (GRCm39) G547R probably benign Het
Kbtbd11 T C 8: 15,077,428 (GRCm39) V9A probably damaging Het
Ldb2 T C 5: 44,699,141 (GRCm39) D99G possibly damaging Het
Mfsd12 G T 10: 81,193,633 (GRCm39) D68Y probably damaging Het
Mgarp T C 3: 51,296,384 (GRCm39) D228G probably benign Het
Myh14 A T 7: 44,272,605 (GRCm39) L1441Q probably damaging Het
Obscn T C 11: 58,943,402 (GRCm39) D4810G probably benign Het
Or10ak9 T A 4: 118,726,083 (GRCm39) I34N possibly damaging Het
Or14c40 A T 7: 86,313,719 (GRCm39) Y283F probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b12 A G 19: 12,897,472 (GRCm39) V67A possibly damaging Het
Or8g30 A G 9: 39,230,757 (GRCm39) I51T probably benign Het
Pdhx A G 2: 102,858,625 (GRCm39) V393A probably benign Het
Pdpk1 C T 17: 24,325,920 (GRCm39) R92H possibly damaging Het
Pgr A T 9: 8,965,023 (GRCm39) I889F probably benign Het
Pum2 T A 12: 8,778,754 (GRCm39) I468K possibly damaging Het
Recql5 A G 11: 115,785,499 (GRCm39) S666P probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc9a2 A G 1: 40,781,964 (GRCm39) T398A probably damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Tub A T 7: 108,620,134 (GRCm39) N93Y probably damaging Het
Usp3 T C 9: 66,447,432 (GRCm39) T181A probably damaging Het
Vars2 A G 17: 35,970,919 (GRCm39) L637P probably damaging Het
Vmn2r1 T C 3: 63,989,240 (GRCm39) S60P possibly damaging Het
Wdcp A G 12: 4,901,583 (GRCm39) S480G probably benign Het
Zbtb38 T C 9: 96,568,333 (GRCm39) Y917C probably damaging Het
Zfp68 T C 5: 138,604,875 (GRCm39) K445E probably damaging Het
Zmynd10 A G 9: 107,428,144 (GRCm39) probably null Het
Other mutations in Slc26a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL01763:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL01778:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL01779:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL01872:Slc26a4 APN 12 31,589,202 (GRCm39) missense probably benign 0.22
IGL02016:Slc26a4 APN 12 31,585,666 (GRCm39) missense probably damaging 0.99
IGL02184:Slc26a4 APN 12 31,599,948 (GRCm39) missense probably damaging 1.00
IGL02267:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL02270:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL02271:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL02347:Slc26a4 APN 12 31,578,853 (GRCm39) splice site probably benign
IGL02543:Slc26a4 APN 12 31,578,688 (GRCm39) missense possibly damaging 0.75
IGL02803:Slc26a4 APN 12 31,572,526 (GRCm39) critical splice acceptor site probably null
IGL02885:Slc26a4 APN 12 31,575,475 (GRCm39) missense probably benign 0.00
IGL02974:Slc26a4 APN 12 31,579,553 (GRCm39) missense probably damaging 1.00
IGL03037:Slc26a4 APN 12 31,581,686 (GRCm39) splice site probably benign
cul-de-sac UTSW 12 31,575,567 (GRCm39) nonsense probably null
discobolus UTSW 12 31,590,532 (GRCm39) nonsense probably null
R0677:Slc26a4 UTSW 12 31,599,910 (GRCm39) critical splice donor site probably null
R0961:Slc26a4 UTSW 12 31,585,618 (GRCm39) missense probably benign
R1025:Slc26a4 UTSW 12 31,578,736 (GRCm39) missense probably damaging 1.00
R1301:Slc26a4 UTSW 12 31,575,567 (GRCm39) nonsense probably null
R1729:Slc26a4 UTSW 12 31,594,493 (GRCm39) missense possibly damaging 0.95
R2321:Slc26a4 UTSW 12 31,590,543 (GRCm39) missense probably damaging 1.00
R3967:Slc26a4 UTSW 12 31,578,686 (GRCm39) missense probably damaging 1.00
R3970:Slc26a4 UTSW 12 31,578,686 (GRCm39) missense probably damaging 1.00
R4007:Slc26a4 UTSW 12 31,590,532 (GRCm39) nonsense probably null
R4370:Slc26a4 UTSW 12 31,579,475 (GRCm39) missense probably benign 0.01
R4647:Slc26a4 UTSW 12 31,590,525 (GRCm39) missense possibly damaging 0.90
R4648:Slc26a4 UTSW 12 31,590,525 (GRCm39) missense possibly damaging 0.90
R5816:Slc26a4 UTSW 12 31,578,684 (GRCm39) missense probably damaging 1.00
R5932:Slc26a4 UTSW 12 31,585,248 (GRCm39) critical splice donor site probably null
R6675:Slc26a4 UTSW 12 31,590,512 (GRCm39) missense possibly damaging 0.89
R6732:Slc26a4 UTSW 12 31,576,599 (GRCm39) critical splice donor site probably null
R6890:Slc26a4 UTSW 12 31,599,950 (GRCm39) missense possibly damaging 0.79
R7231:Slc26a4 UTSW 12 31,597,945 (GRCm39) missense probably damaging 1.00
R7286:Slc26a4 UTSW 12 31,579,527 (GRCm39) nonsense probably null
R7790:Slc26a4 UTSW 12 31,594,482 (GRCm39) missense probably damaging 1.00
R7812:Slc26a4 UTSW 12 31,594,449 (GRCm39) missense probably damaging 1.00
R8002:Slc26a4 UTSW 12 31,597,969 (GRCm39) missense probably benign 0.00
R8362:Slc26a4 UTSW 12 31,594,506 (GRCm39) missense probably benign 0.00
R8531:Slc26a4 UTSW 12 31,599,911 (GRCm39) critical splice donor site probably null
R8988:Slc26a4 UTSW 12 31,572,523 (GRCm39) missense probably benign 0.00
R9216:Slc26a4 UTSW 12 31,578,659 (GRCm39) missense possibly damaging 0.51
R9335:Slc26a4 UTSW 12 31,575,553 (GRCm39) missense probably damaging 0.99
R9354:Slc26a4 UTSW 12 31,585,255 (GRCm39) missense possibly damaging 0.91
R9680:Slc26a4 UTSW 12 31,585,292 (GRCm39) missense probably damaging 1.00
X0022:Slc26a4 UTSW 12 31,585,686 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGATCCACACCTGTTATGGCCC -3'
(R):5'- CGTGCTAGTTTCCTGCTTCCAGAG -3'

Sequencing Primer
(F):5'- ACCTGTTATGGCCCATGCG -3'
(R):5'- gcgtcctctgcctcctc -3'
Posted On 2013-04-16