Incidental Mutation 'IGL01763:Slc26a4'
ID 278857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc26a4
Ensembl Gene ENSMUSG00000020651
Gene Name solute carrier family 26, member 4
Synonyms pendrin, Pds
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01763
Quality Score
Status
Chromosome 12
Chromosomal Location 31569826-31609968 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 31578853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001253]
AlphaFold Q9R155
Predicted Effect probably benign
Transcript: ENSMUST00000001253
SMART Domains Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651

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
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 C T 7: 97,915,339 (GRCm39) probably benign Het
Atp4a A G 7: 30,414,943 (GRCm39) E244G probably benign Het
Cdh20 T C 1: 109,993,520 (GRCm39) I325T probably benign Het
Dennd2c T C 3: 103,064,224 (GRCm39) L623P probably damaging Het
Eef1akmt3 T C 10: 126,876,952 (GRCm39) D65G probably benign Het
Gimap3 T A 6: 48,742,430 (GRCm39) S167C probably damaging Het
Gm12185 A T 11: 48,806,671 (GRCm39) F173L probably benign Het
Gm5611 A G 9: 16,941,699 (GRCm39) noncoding transcript Het
Gpr161 T C 1: 165,144,820 (GRCm39) S387P probably benign Het
Hsd17b8 A G 17: 34,245,835 (GRCm39) V219A probably damaging Het
Mtfr2 G A 10: 20,228,683 (GRCm39) probably benign Het
Myh8 A G 11: 67,177,245 (GRCm39) K437R probably benign Het
Myo15a A G 11: 60,412,564 (GRCm39) D3335G probably benign Het
Ndufaf7 C T 17: 79,253,771 (GRCm39) T323I possibly damaging Het
Or5g29 A G 2: 85,421,691 (GRCm39) N269S probably benign Het
Pcdh15 T C 10: 74,046,293 (GRCm39) V190A probably benign Het
Pdzd2 A G 15: 12,372,632 (GRCm39) V2501A probably benign Het
Piwil4 A T 9: 14,617,562 (GRCm39) probably null Het
Plxnb2 C T 15: 89,046,184 (GRCm39) probably null Het
Sgcd A G 11: 47,085,856 (GRCm39) probably null Het
Sin3b A G 8: 73,473,236 (GRCm39) K519E probably damaging Het
Spty2d1 T C 7: 46,649,596 (GRCm39) D33G probably damaging Het
Txnrd3 C T 6: 89,638,537 (GRCm39) T242I probably damaging Het
Vps13b A G 15: 35,709,945 (GRCm39) D1964G possibly damaging Het
Wdr24 A G 17: 26,045,164 (GRCm39) T300A probably benign Het
Zc2hc1c C A 12: 85,336,450 (GRCm39) Q36K probably benign Het
Zfp719 A T 7: 43,233,613 (GRCm39) I11F probably benign Het
Other mutations in Slc26a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754: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
R0152:Slc26a4 UTSW 12 31,579,497 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16