Incidental Mutation 'IGL02347:Slc26a4'
ID 289344
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 # IGL02347
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Car12 T A 9: 66,671,629 (GRCm39) V352D possibly damaging Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Eddm13 A G 7: 6,272,883 (GRCm39) I79M possibly damaging Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nt5c2 A G 19: 46,912,695 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Ppid A G 3: 79,502,526 (GRCm39) I82V probably benign Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnaseh1 A T 12: 28,707,629 (GRCm39) probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tedc2 A C 17: 24,439,584 (GRCm39) V19G probably damaging Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C probably damaging 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
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