Incidental Mutation 'R1648:Slc26a5'
ID 174009
Institutional Source Beutler Lab
Gene Symbol Slc26a5
Ensembl Gene ENSMUSG00000029015
Gene Name solute carrier family 26, member 5
Synonyms prestin, Pres
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 22015653-22070602 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 22018974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 590 (K590*)
Ref Sequence ENSEMBL: ENSMUSP00000118029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]
AlphaFold Q99NH7
Predicted Effect probably null
Transcript: ENSMUST00000030878
AA Change: K622*
SMART Domains Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: K622*

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: K585*
SMART Domains Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: K585*

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: K590*
SMART Domains Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: K590*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R 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
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'- GGACTTGTTCCAGGTGGCACTTAC -3'
(R):5'- ACTTGTGGCCTGTCATGCTGAG -3'

Sequencing Primer
(F):5'- ACCCCGGCCAGAGTTTTC -3'
(R):5'- ctgatgccctcttctgcc -3'
Posted On 2014-04-24