Incidental Mutation 'R0002:Slc26a5'
ID 157132
Institutional Source Beutler Lab
Gene Symbol Slc26a5
Ensembl Gene ENSMUSG00000029015
Gene Name solute carrier family 26, member 5
Synonyms prestin, Pres
MMRRC Submission 038298-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0002 (G1)
Quality Score 28
Status Validated
Chromosome 5
Chromosomal Location 22015653-22070602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22019981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 530 (I530F)
Ref Sequence ENSEMBL: ENSMUSP00000110830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]
AlphaFold Q99NH7
Predicted Effect probably damaging
Transcript: ENSMUST00000030878
AA Change: I567F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: I567F

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 damaging
Transcript: ENSMUST00000115176
AA Change: I530F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: I530F

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 damaging
Transcript: ENSMUST00000127975
AA Change: I535F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: I535F

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 benign
Transcript: ENSMUST00000142888
SMART Domains Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015

DomainStartEndE-ValueType
Pfam:Sulfate_tra_GLY 65 148 2.1e-33 PFAM
Pfam:Sulfate_transp 193 441 9.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150012
Meta Mutation Damage Score 0.3954 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (36/37)
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2 T C 1: 106,640,241 (GRCm39) R124G possibly damaging Het
Catsper1 A G 19: 5,391,551 (GRCm39) probably benign Het
Ccdc125 C T 13: 100,830,114 (GRCm39) Q295* probably null Het
Cdhr5 G T 7: 140,849,933 (GRCm39) probably null Het
Dhx36 A C 3: 62,388,260 (GRCm39) L625W probably damaging Het
Icam5 T A 9: 20,944,801 (GRCm39) D121E probably benign Het
Ncoa1 A G 12: 4,340,885 (GRCm39) V849A probably benign Het
Nuak1 A T 10: 84,211,231 (GRCm39) W286R probably damaging Het
Pate14 A T 9: 36,548,655 (GRCm39) D59E probably damaging Het
Prkag3 T C 1: 74,783,947 (GRCm39) D312G probably damaging Het
Sbk3 T C 7: 4,973,630 (GRCm39) D17G probably damaging Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Sult3a2 T C 10: 33,655,803 (GRCm39) I59V possibly damaging Het
Tapbp C T 17: 34,144,606 (GRCm39) A234V probably damaging Het
Tnr T C 1: 159,701,770 (GRCm39) Y624H probably damaging Het
Zfp560 T C 9: 20,258,813 (GRCm39) Y683C probably damaging 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
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
R7184:Slc26a5 UTSW 5 22,042,244 (GRCm39) nonsense probably null
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'- GCATGACAGGCCACAAGTTACCAG -3'
(R):5'- TAACTCAGCTCAGGGCATCTGAGG -3'

Sequencing Primer
(F):5'- atctcttgcctctgccttc -3'
(R):5'- CATCTGAGGGCAGGGCAG -3'
Posted On 2014-02-14