Incidental Mutation 'IGL02347:Slc26a4'
ID289344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc26a4
Ensembl Gene ENSMUSG00000020651
Gene Namesolute carrier family 26, member 4
SynonymsPds, pendrin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02347
Quality Score
Status
Chromosome12
Chromosomal Location31519827-31559969 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 31528854 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001253]
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
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging Het
Other mutations in Slc26a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Slc26a4 APN 12 31528854 splice site probably benign
IGL01763:Slc26a4 APN 12 31528854 splice site probably benign
IGL01778:Slc26a4 APN 12 31528854 splice site probably benign
IGL01779:Slc26a4 APN 12 31528854 splice site probably benign
IGL01872:Slc26a4 APN 12 31539203 missense probably benign 0.22
IGL02016:Slc26a4 APN 12 31535667 missense probably damaging 0.99
IGL02184:Slc26a4 APN 12 31549949 missense probably damaging 1.00
IGL02267:Slc26a4 APN 12 31528854 splice site probably benign
IGL02270:Slc26a4 APN 12 31528854 splice site probably benign
IGL02271:Slc26a4 APN 12 31528854 splice site probably benign
IGL02543:Slc26a4 APN 12 31528689 missense possibly damaging 0.75
IGL02803:Slc26a4 APN 12 31522527 critical splice acceptor site probably null
IGL02885:Slc26a4 APN 12 31525476 missense probably benign 0.00
IGL02974:Slc26a4 APN 12 31529554 missense probably damaging 1.00
IGL03037:Slc26a4 APN 12 31531687 splice site probably benign
cul-de-sac UTSW 12 31525568 nonsense probably null
discobolus UTSW 12 31540533 nonsense probably null
R0152:Slc26a4 UTSW 12 31529498 missense probably damaging 1.00
R0677:Slc26a4 UTSW 12 31549911 critical splice donor site probably null
R0961:Slc26a4 UTSW 12 31535619 missense probably benign
R1025:Slc26a4 UTSW 12 31528737 missense probably damaging 1.00
R1301:Slc26a4 UTSW 12 31525568 nonsense probably null
R1729:Slc26a4 UTSW 12 31544494 missense possibly damaging 0.95
R2321:Slc26a4 UTSW 12 31540544 missense probably damaging 1.00
R3967:Slc26a4 UTSW 12 31528687 missense probably damaging 1.00
R3970:Slc26a4 UTSW 12 31528687 missense probably damaging 1.00
R4007:Slc26a4 UTSW 12 31540533 nonsense probably null
R4370:Slc26a4 UTSW 12 31529476 missense probably benign 0.01
R4647:Slc26a4 UTSW 12 31540526 missense possibly damaging 0.90
R4648:Slc26a4 UTSW 12 31540526 missense possibly damaging 0.90
R5816:Slc26a4 UTSW 12 31528685 missense probably damaging 1.00
R5932:Slc26a4 UTSW 12 31535249 critical splice donor site probably null
R6675:Slc26a4 UTSW 12 31540513 missense possibly damaging 0.89
R6732:Slc26a4 UTSW 12 31526600 critical splice donor site probably null
R6890:Slc26a4 UTSW 12 31549951 missense possibly damaging 0.79
R7231:Slc26a4 UTSW 12 31547946 missense probably damaging 1.00
R7286:Slc26a4 UTSW 12 31529528 nonsense probably null
R7790:Slc26a4 UTSW 12 31544483 missense probably damaging 1.00
R7812:Slc26a4 UTSW 12 31544450 missense probably damaging 1.00
X0022:Slc26a4 UTSW 12 31535687 missense probably damaging 1.00
Posted On2015-04-16