Incidental Mutation 'R6609:Slc26a5'
ID 525814
Institutional Source Beutler Lab
Gene Symbol Slc26a5
Ensembl Gene ENSMUSG00000029015
Gene Name solute carrier family 26, member 5
Synonyms prestin, Pres
MMRRC Submission 044732-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6609 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 22015653-22070602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22024717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 456 (I456V)
Ref Sequence ENSEMBL: ENSMUSP00000110830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]
AlphaFold Q99NH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030878
AA Change: I493V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: I493V

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 possibly damaging
Transcript: ENSMUST00000115176
AA Change: I456V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: I456V

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 benign
Transcript: ENSMUST00000127975
AA Change: I461V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: I461V

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
AA Change: I435V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
AA Change: I435V

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 0.1058 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (34/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C T 12: 118,892,497 (GRCm39) V421I probably damaging Het
Bpifb3 T A 2: 153,762,568 (GRCm39) probably null Het
C1rl T C 6: 124,485,583 (GRCm39) V318A probably benign Het
Cacna1b C T 2: 24,543,061 (GRCm39) V1264M probably damaging Het
Cacna1s A G 1: 136,041,129 (GRCm39) D1551G probably benign Het
Cdc42bpa T G 1: 179,928,839 (GRCm39) probably null Het
Cdc7 G A 5: 107,120,924 (GRCm39) R182H probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Cyth1 A T 11: 118,061,686 (GRCm39) L309Q probably damaging Het
Dnah6 G A 6: 73,030,678 (GRCm39) T3378I possibly damaging Het
Get4 A G 5: 139,254,820 (GRCm39) probably benign Het
Gm136 T A 4: 34,746,526 (GRCm39) M162L probably benign Het
Grik5 G T 7: 24,714,951 (GRCm39) S681* probably null Het
Hsf5 C T 11: 87,526,779 (GRCm39) P484S probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Kl A T 5: 150,912,427 (GRCm39) K725N probably benign Het
Lama3 G A 18: 12,646,735 (GRCm39) V144M probably damaging Het
Lrrc14 T C 15: 76,598,453 (GRCm39) V363A probably benign Het
Mettl15 T C 2: 108,967,687 (GRCm39) R200G probably null Het
Mki67 T C 7: 135,301,558 (GRCm39) T1159A possibly damaging Het
Muc6 G C 7: 141,226,700 (GRCm39) probably benign Het
Ndufb5 C G 3: 32,795,832 (GRCm39) T8R probably benign Het
Or4f60 T C 2: 111,902,509 (GRCm39) M140V probably benign Het
Or6ae1 C A 7: 139,742,476 (GRCm39) R129L probably benign Het
Pde1a T A 2: 79,736,484 (GRCm39) D15V probably damaging Het
Plcg2 G A 8: 118,294,909 (GRCm39) G191S probably benign Het
Ptprq T C 10: 107,408,829 (GRCm39) T1895A probably damaging Het
Pxdn T C 12: 30,052,940 (GRCm39) V1039A probably benign Het
Smco4 C T 9: 15,456,031 (GRCm39) A39V probably damaging Het
Tmem102 T A 11: 69,695,940 (GRCm39) L40F probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zfp985 A T 4: 147,667,578 (GRCm39) M149L probably benign Het
Zfp985 T C 4: 147,668,124 (GRCm39) F331L 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
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
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'- CATGAGTCCTATCACGAGGC -3'
(R):5'- GTTACTCAGGCAAGGATTGGG -3'

Sequencing Primer
(F):5'- ATGAGTCCTATCACGAGGCTCTTC -3'
(R):5'- ATGCGCATCTGTGTACCTG -3'
Posted On 2018-06-22