Incidental Mutation 'R7184:Slc26a5'
ID 559169
Institutional Source Beutler Lab
Gene Symbol Slc26a5
Ensembl Gene ENSMUSG00000029015
Gene Name solute carrier family 26, member 5
Synonyms prestin, Pres
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 22015653-22070602 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 22042244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 237 (Y237*)
Ref Sequence ENSEMBL: ENSMUSP00000030878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]
AlphaFold Q99NH7
Predicted Effect probably null
Transcript: ENSMUST00000030878
AA Change: Y237*
SMART Domains Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: Y237*

DomainStartEndE-ValueType
Pfam:Sulfate_transp 80 475 3.3e-109 PFAM
transmembrane domain 476 498 N/A INTRINSIC
Pfam:STAS 526 709 3.3e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115176
AA Change: Y200*
SMART Domains Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: Y200*

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 106 5.2e-9 PFAM
Pfam:Sulfate_transp 156 434 1.6e-65 PFAM
transmembrane domain 439 461 N/A INTRINSIC
Pfam:STAS 489 672 1.5e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127975
AA Change: Y237*
SMART Domains Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: Y237*

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 148 4.3e-33 PFAM
Pfam:Sulfate_transp 193 440 8.9e-56 PFAM
transmembrane domain 447 469 N/A INTRINSIC
Pfam:STAS 494 677 4.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142888
AA Change: Y237*
SMART Domains Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
AA Change: Y237*

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 148 2.1e-33 PFAM
Pfam:Sulfate_transp 193 441 9.6e-49 PFAM
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
PHENOTYPE: Cochlear sensitivity is decreased in mutant due to a loss of outer hair cell electromotility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Slc26a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Slc26a5 APN 5 22,020,734 (GRCm39) missense probably damaging 1.00
IGL02486:Slc26a5 APN 5 22,051,323 (GRCm39) missense probably damaging 1.00
IGL02639:Slc26a5 APN 5 22,024,765 (GRCm39) missense probably damaging 1.00
IGL02810:Slc26a5 APN 5 22,018,381 (GRCm39) splice site probably benign
R0002:Slc26a5 UTSW 5 22,019,981 (GRCm39) missense probably damaging 1.00
R0002:Slc26a5 UTSW 5 22,019,981 (GRCm39) missense probably damaging 1.00
R0089:Slc26a5 UTSW 5 22,016,342 (GRCm39) splice site probably null
R0136:Slc26a5 UTSW 5 22,039,345 (GRCm39) missense probably damaging 1.00
R0212:Slc26a5 UTSW 5 22,028,547 (GRCm39) nonsense probably null
R0522:Slc26a5 UTSW 5 22,051,343 (GRCm39) missense probably damaging 0.96
R0557:Slc26a5 UTSW 5 22,024,762 (GRCm39) missense probably damaging 1.00
R0711:Slc26a5 UTSW 5 22,052,230 (GRCm39) missense probably damaging 1.00
R0959:Slc26a5 UTSW 5 22,021,959 (GRCm39) missense probably benign 0.01
R1214:Slc26a5 UTSW 5 22,019,981 (GRCm39) missense probably damaging 1.00
R1471:Slc26a5 UTSW 5 22,021,962 (GRCm39) missense probably benign 0.12
R1647:Slc26a5 UTSW 5 22,018,974 (GRCm39) nonsense probably null
R1648:Slc26a5 UTSW 5 22,018,974 (GRCm39) nonsense probably null
R1861:Slc26a5 UTSW 5 22,021,956 (GRCm39) missense possibly damaging 0.93
R1875:Slc26a5 UTSW 5 22,020,725 (GRCm39) missense probably benign 0.03
R2106:Slc26a5 UTSW 5 22,028,542 (GRCm39) missense probably damaging 1.00
R2169:Slc26a5 UTSW 5 22,018,863 (GRCm39) missense probably damaging 1.00
R2219:Slc26a5 UTSW 5 22,028,476 (GRCm39) missense probably damaging 1.00
R2276:Slc26a5 UTSW 5 22,028,545 (GRCm39) missense probably benign 0.39
R2281:Slc26a5 UTSW 5 22,036,508 (GRCm39) missense possibly damaging 0.94
R2325:Slc26a5 UTSW 5 22,024,692 (GRCm39) missense probably damaging 1.00
R4031:Slc26a5 UTSW 5 22,052,189 (GRCm39) missense probably damaging 1.00
R4793:Slc26a5 UTSW 5 22,042,992 (GRCm39) missense probably damaging 1.00
R4941:Slc26a5 UTSW 5 22,025,384 (GRCm39) missense probably damaging 1.00
R5122:Slc26a5 UTSW 5 22,052,194 (GRCm39) missense probably damaging 1.00
R5274:Slc26a5 UTSW 5 22,018,899 (GRCm39) missense possibly damaging 0.74
R5312:Slc26a5 UTSW 5 22,052,258 (GRCm39) missense probably damaging 0.99
R5628:Slc26a5 UTSW 5 22,021,974 (GRCm39) missense probably benign 0.20
R5806:Slc26a5 UTSW 5 22,028,561 (GRCm39) missense probably damaging 1.00
R6227:Slc26a5 UTSW 5 22,026,095 (GRCm39) missense probably damaging 1.00
R6525:Slc26a5 UTSW 5 22,025,348 (GRCm39) missense possibly damaging 0.77
R6609:Slc26a5 UTSW 5 22,024,717 (GRCm39) missense possibly damaging 0.93
R6885:Slc26a5 UTSW 5 22,039,342 (GRCm39) missense probably damaging 1.00
R6974:Slc26a5 UTSW 5 22,045,570 (GRCm39) missense probably damaging 1.00
R7001:Slc26a5 UTSW 5 22,016,334 (GRCm39) missense probably damaging 1.00
R7027:Slc26a5 UTSW 5 22,021,972 (GRCm39) missense possibly damaging 0.60
R7174:Slc26a5 UTSW 5 22,018,892 (GRCm39) missense probably damaging 1.00
R7650:Slc26a5 UTSW 5 22,039,328 (GRCm39) missense possibly damaging 0.96
R8431:Slc26a5 UTSW 5 22,018,904 (GRCm39) missense probably damaging 1.00
R8812:Slc26a5 UTSW 5 22,018,880 (GRCm39) missense probably damaging 1.00
R9184:Slc26a5 UTSW 5 22,018,880 (GRCm39) missense probably damaging 1.00
R9215:Slc26a5 UTSW 5 22,042,285 (GRCm39) missense possibly damaging 0.93
R9281:Slc26a5 UTSW 5 22,019,051 (GRCm39) missense probably benign 0.39
R9324:Slc26a5 UTSW 5 22,018,334 (GRCm39) missense possibly damaging 0.73
R9516:Slc26a5 UTSW 5 22,016,337 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGGTTTAGCCATGGTTGCC -3'
(R):5'- TGGCTGAGAGAAATGCTCAC -3'

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