Incidental Mutation 'R7286:Slc26a4'
ID 566035
Institutional Source Beutler Lab
Gene Symbol Slc26a4
Ensembl Gene ENSMUSG00000020651
Gene Name solute carrier family 26, member 4
Synonyms pendrin, Pds
MMRRC Submission 045394-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7286 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 31569826-31609968 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 31579527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 578 (Y578*)
Ref Sequence ENSEMBL: ENSMUSP00000001253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001253]
AlphaFold Q9R155
Predicted Effect probably null
Transcript: ENSMUST00000001253
AA Change: Y578*
SMART Domains Protein: ENSMUSP00000001253
Gene: ENSMUSG00000020651
AA Change: Y578*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,334,317 (GRCm39) M187L possibly damaging Het
9930012K11Rik T C 14: 70,394,686 (GRCm39) E156G possibly damaging Het
Acad9 C T 3: 36,130,139 (GRCm39) A194V probably damaging Het
Agps T A 2: 75,683,128 (GRCm39) V151E probably benign Het
Ak9 A T 10: 41,283,367 (GRCm39) I1273L Het
Akr1c19 T A 13: 4,296,818 (GRCm39) L288Q probably damaging Het
Carmil1 T G 13: 24,197,377 (GRCm39) D1353A probably damaging Het
Ccz1 T A 5: 143,949,897 (GRCm39) I43F probably damaging Het
Cep70 G A 9: 99,157,638 (GRCm39) C179Y probably damaging Het
Comt A T 16: 18,229,440 (GRCm39) L196H probably damaging Het
Cspg5 A T 9: 110,076,023 (GRCm39) D253V probably damaging Het
Dars2 A G 1: 160,874,378 (GRCm39) V437A possibly damaging Het
Dcaf5 A G 12: 80,395,164 (GRCm39) I335T probably damaging Het
Ddn T C 15: 98,703,906 (GRCm39) K462R possibly damaging Het
Dscaml1 T C 9: 45,654,044 (GRCm39) probably null Het
Eef1ece2 T C 16: 20,451,341 (GRCm39) S325P probably benign Het
Ethe1 A G 7: 24,307,377 (GRCm39) Y197C probably damaging Het
Evc A T 5: 37,479,527 (GRCm39) L269* probably null Het
Fam161a T C 11: 22,970,001 (GRCm39) S60P possibly damaging Het
Fam20b A G 1: 156,509,012 (GRCm39) V400A probably benign Het
Fam53b T A 7: 132,361,390 (GRCm39) S213C possibly damaging Het
Flot2 A G 11: 77,945,612 (GRCm39) I45V probably benign Het
Gemin4 A C 11: 76,103,579 (GRCm39) L394R probably damaging Het
Glis2 T G 16: 4,429,182 (GRCm39) S128R possibly damaging Het
Gm3696 A G 14: 18,435,009 (GRCm39) Y92H probably damaging Het
Gpbp1l1 T C 4: 116,447,442 (GRCm39) V374A probably benign Het
Grm1 T C 10: 10,565,440 (GRCm39) N956S probably benign Het
Hbb-bh1 T C 7: 103,492,238 (GRCm39) E27G probably damaging Het
Hmcn1 A T 1: 150,458,088 (GRCm39) C5233S probably damaging Het
Hmgcr C T 13: 96,803,105 (GRCm39) C30Y probably damaging Het
Hoxb6 A G 11: 96,183,651 (GRCm39) probably benign Het
Igf2 T C 7: 142,209,555 (GRCm39) Q35R possibly damaging Het
Ighv1-4 C T 12: 114,450,941 (GRCm39) V56I probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lmtk2 C T 5: 144,111,178 (GRCm39) Q633* probably null Het
Mesd T C 7: 83,544,957 (GRCm39) Y136H probably damaging Het
Mga T A 2: 119,795,269 (GRCm39) S2984R possibly damaging Het
Mkrn3 T C 7: 62,068,675 (GRCm39) N372S probably benign Het
Mtpap A G 18: 4,387,068 (GRCm39) I373V probably benign Het
Mycbp2 G A 14: 103,358,027 (GRCm39) T4589M probably damaging Het
Myh2 A G 11: 67,079,195 (GRCm39) Q921R probably benign Het
Myom1 A G 17: 71,352,544 (GRCm39) D324G possibly damaging Het
Nat10 T C 2: 103,584,514 (GRCm39) K88E probably benign Het
Ncapd3 A G 9: 26,981,254 (GRCm39) R915G probably damaging Het
Nek4 T C 14: 30,679,249 (GRCm39) Y190H probably damaging Het
Nfasc A C 1: 132,529,790 (GRCm39) Y797D probably damaging Het
Ngp A G 9: 110,249,978 (GRCm39) D92G probably benign Het
Nos2 A C 11: 78,820,680 (GRCm39) H95P probably damaging Het
Nr3c1 ACGTC ACGTCGTC 18: 39,619,513 (GRCm39) probably benign Het
Or10ag59 C T 2: 87,405,863 (GRCm39) T145I probably benign Het
Or5bw2 C A 7: 6,573,715 (GRCm39) H242N probably damaging Het
Or5p73 T C 7: 108,064,642 (GRCm39) I37T possibly damaging Het
Or5t18 A T 2: 86,636,967 (GRCm39) H125Q possibly damaging Het
Otogl T A 10: 107,606,471 (GRCm39) D2154V probably benign Het
Pdss1 T A 2: 22,825,653 (GRCm39) probably null Het
Pex5 A T 6: 124,375,022 (GRCm39) L609* probably null Het
Pglyrp4 C A 3: 90,640,281 (GRCm39) A177D probably damaging Het
Phactr4 A G 4: 132,104,489 (GRCm39) probably null Het
Phf8-ps T C 17: 33,284,501 (GRCm39) D767G probably benign Het
Pik3cd G C 4: 149,744,171 (GRCm39) N193K probably benign Het
Prr36 TACCTCTTC T 8: 4,265,163 (GRCm39) probably benign Het
Prss38 A T 11: 59,266,384 (GRCm39) W25R probably benign Het
Prss8 T A 7: 127,526,056 (GRCm39) Q189L probably damaging Het
Psd T A 19: 46,303,240 (GRCm39) D713V probably damaging Het
Rad51ap2 C T 12: 11,507,692 (GRCm39) T538I probably benign Het
Rarres1 T C 3: 67,422,517 (GRCm39) T78A probably benign Het
Rbl2 G T 8: 91,828,922 (GRCm39) G651* probably null Het
Rev3l A T 10: 39,699,601 (GRCm39) Q1366L probably damaging Het
Rundc1 T C 11: 101,320,413 (GRCm39) S215P probably benign Het
Sanbr A T 11: 23,572,479 (GRCm39) C130S probably benign Het
Scarf2 G A 16: 17,620,837 (GRCm39) W168* probably null Het
Sh2d7 A G 9: 54,448,186 (GRCm39) D69G possibly damaging Het
Slc2a9 A T 5: 38,610,538 (GRCm39) L87Q probably damaging Het
Slc39a10 A T 1: 46,849,230 (GRCm39) H795Q probably damaging Het
Spata13 C T 14: 60,993,871 (GRCm39) R1108W probably damaging Het
Sqle T C 15: 59,187,901 (GRCm39) S70P probably benign Het
Syncrip A T 9: 88,346,716 (GRCm39) F263I probably damaging Het
Synj2 T C 17: 6,088,220 (GRCm39) S1424P possibly damaging Het
Tax1bp3 A T 11: 73,071,941 (GRCm39) T89S possibly damaging Het
Tcaim G A 9: 122,648,092 (GRCm39) probably null Het
Tcp10c T C 17: 13,582,438 (GRCm39) I240T possibly damaging Het
Ttll8 G T 15: 88,801,442 (GRCm39) N415K probably benign Het
Tut7 T C 13: 59,969,463 (GRCm39) E144G probably benign Het
Ugcg T C 4: 59,217,111 (GRCm39) S212P possibly damaging Het
Vmn2r32 T C 7: 7,482,807 (GRCm39) K56E probably benign Het
Vmn2r55 T C 7: 12,386,000 (GRCm39) E660G probably damaging Het
Vmn2r7 T C 3: 64,598,301 (GRCm39) N752S probably benign Het
Vps54 T A 11: 21,225,005 (GRCm39) M167K probably benign Het
Vwa2 A C 19: 56,897,791 (GRCm39) M699L probably benign Het
Wdr59 A G 8: 112,192,494 (GRCm39) V689A Het
Whamm T G 7: 81,235,995 (GRCm39) N399K probably damaging Het
Zfp760 A G 17: 21,941,760 (GRCm39) K312E probably benign Het
Zkscan3 C A 13: 21,578,983 (GRCm39) V171L probably benign 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
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
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'- ATGCGCATCTGGATACCAAAG -3'
(R):5'- AGGCCGGGTTTCTTTCAAAATAG -3'

Sequencing Primer
(F):5'- TACCAAAGGAGGGTCAGTTGTCTAAC -3'
(R):5'- CTTAGGACCTATGTAGGAGCACTC -3'
Posted On 2019-06-26