Mutagenetix > Incidental Mutation

Incidental Mutation 'R0212:Slc26a5'

33527

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

prestin, Pres

MMRRC Submission

038463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22015653-22070602 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 22028547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 340 (Y340*)

Ref Sequence

ENSEMBL: ENSMUSP00000118263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030878] [ENSMUST00000115176] [ENSMUST00000127975] [ENSMUST00000142888]

AlphaFold

Q99NH7

Predicted Effect

probably null
Transcript: ENSMUST00000030878
AA Change: Y340*

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: Y340*

Domain	Start	End	E-Value	Type
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: Y303*

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: Y303*

Domain	Start	End	E-Value	Type
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: Y340*

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: Y340*

Domain	Start	End	E-Value	Type
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: Y340*

SMART Domains

Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
AA Change: Y340*

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,006,254 (GRCm39)		probably null	Het
Adat1	T	A	8: 112,713,840 (GRCm39)	D113V	possibly damaging	Het
Arhgap40	T	G	2: 158,392,495 (GRCm39)	L656V	probably damaging	Het
Atg2a	T	C	19: 6,296,584 (GRCm39)	I330T	probably damaging	Het
Cad	A	G	5: 31,235,454 (GRCm39)	D2137G	probably damaging	Het
Cd8a	G	A	6: 71,350,633 (GRCm39)	E33K	probably benign	Het
Cemip	C	A	7: 83,622,398 (GRCm39)	G594C	probably damaging	Het
Chd6	T	A	2: 160,894,767 (GRCm39)	D31V	probably damaging	Het
Cmpk1	A	T	4: 114,822,216 (GRCm39)	M111K	possibly damaging	Het
Crispld2	T	G	8: 120,737,370 (GRCm39)	H40Q	probably benign	Het
Depdc5	A	G	5: 33,069,586 (GRCm39)	T441A	probably benign	Het
Dpm1	T	C	2: 168,069,414 (GRCm39)	N5S	probably benign	Het
Ercc4	A	G	16: 12,941,196 (GRCm39)		probably null	Het
Fam83f	A	T	15: 80,574,779 (GRCm39)	M229L	probably benign	Het
Fgd5	A	T	6: 91,965,189 (GRCm39)	D474V	probably damaging	Het
Fgf21	G	T	7: 45,263,526 (GRCm39)	P184Q	probably benign	Het
Fry	A	T	5: 150,419,862 (GRCm39)	D1008V	probably damaging	Het
Gjd2	T	C	2: 113,841,953 (GRCm39)	T175A	probably benign	Het
Gphn	C	T	12: 78,684,326 (GRCm39)	T577I	probably damaging	Het
Ifi207	A	T	1: 173,563,964 (GRCm39)	N18K	possibly damaging	Het
Ifne	T	C	4: 88,797,972 (GRCm39)	R149G	possibly damaging	Het
Ift80	A	T	3: 68,847,506 (GRCm39)	L330H	probably benign	Het
Inpp4b	A	T	8: 82,497,546 (GRCm39)	H122L	probably benign	Het
Inpp5e	T	C	2: 26,298,352 (GRCm39)		probably null	Het
Ism1	T	C	2: 139,582,177 (GRCm39)	L163S	probably benign	Het
Itga11	T	A	9: 62,653,251 (GRCm39)	V375E	probably benign	Het
Itpr3	T	G	17: 27,308,293 (GRCm39)	F306V	probably damaging	Het
Kif19a	A	T	11: 114,675,736 (GRCm39)	I403F	possibly damaging	Het
Klf12	A	T	14: 100,260,298 (GRCm39)	S144T	probably benign	Het
Lyst	C	T	13: 13,810,570 (GRCm39)	H747Y	possibly damaging	Het
Mccc2	A	G	13: 100,091,163 (GRCm39)	Y445H	probably benign	Het
Mei1	G	A	15: 81,980,132 (GRCm39)		probably null	Het
Metap2	T	A	10: 93,697,242 (GRCm39)	K479N	probably damaging	Het
Mief2	A	T	11: 60,621,493 (GRCm39)	D62V	probably damaging	Het
Mtrf1	A	G	14: 79,656,719 (GRCm39)	D407G	probably benign	Het
Myo3a	A	G	2: 22,296,659 (GRCm39)	R210G	probably damaging	Het
Nkx2-2	T	C	2: 147,026,090 (GRCm39)	H216R	probably damaging	Het
Nos1	A	G	5: 118,048,277 (GRCm39)	E694G	possibly damaging	Het
Nptn	A	T	9: 58,535,164 (GRCm39)	Y103F	probably benign	Het
Nrxn1	A	G	17: 90,670,186 (GRCm39)		probably benign	Het
Numbl	T	C	7: 26,980,184 (GRCm39)	S389P	probably damaging	Het
Or10d5	A	G	9: 39,861,236 (GRCm39)	V277A	probably benign	Het
Or1q1	T	A	2: 36,887,644 (GRCm39)	V274E	possibly damaging	Het
Or1q1	A	T	2: 36,887,335 (GRCm39)	D171V	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5d16	A	G	2: 87,773,435 (GRCm39)	F179S	probably damaging	Het
Or5i1	C	T	2: 87,613,826 (GRCm39)	P314L	unknown	Het
Or8g20	C	A	9: 39,396,384 (GRCm39)	S55I	probably damaging	Het
Osm	T	G	11: 4,188,465 (GRCm39)	S31A	probably benign	Het
Paqr4	T	C	17: 23,957,294 (GRCm39)	M70V	probably benign	Het
Pikfyve	T	A	1: 65,302,064 (GRCm39)	Y1607N	probably benign	Het
Plec	A	C	15: 76,075,505 (GRCm39)	Y402*	probably null	Het
Polq	A	G	16: 36,887,216 (GRCm39)	K1631E	probably damaging	Het
Pou6f1	A	G	15: 100,478,696 (GRCm39)	V129A	possibly damaging	Het
Prm2	A	G	16: 10,609,463 (GRCm39)		probably benign	Het
Prtn3	A	G	10: 79,716,971 (GRCm39)	Y112C	probably damaging	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rps6ka5	A	T	12: 100,519,428 (GRCm39)		probably null	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Slc10a1	A	C	12: 81,014,486 (GRCm39)	L78R	possibly damaging	Het
Sptbn2	T	C	19: 4,796,970 (GRCm39)		probably null	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Tmem131l	A	T	3: 83,820,575 (GRCm39)	S1226T	probably benign	Het
Togaram2	C	T	17: 72,031,978 (GRCm39)	L866F	probably damaging	Het
Txndc17	A	G	11: 72,098,558 (GRCm39)	T37A	probably benign	Het
Vmn2r105	C	A	17: 20,428,827 (GRCm39)	V750F	possibly damaging	Het
Vmn2r54	T	A	7: 12,366,424 (GRCm39)	Y170F	probably benign	Het
Wrnip1	T	C	13: 33,005,889 (GRCm39)	V577A	probably benign	Het
Zc3h7b	A	G	15: 81,660,529 (GRCm39)	T226A	probably benign	Het
Zfp948	T	C	17: 21,808,422 (GRCm39)	I538T	probably benign	Het
Zzef1	A	G	11: 72,764,736 (GRCm39)	E1401G	possibly damaging	Het

Other mutations in Slc26a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTCACTGTGAGAAGCGGAGCTTG -3'
(R):5'- GCAGTGCTTGTCCAAAACACTCCC -3'

Sequencing Primer
(F):5'- ATTGCCATCAACCTGGTAGC -3'
(R):5'- TCACTTGTCATCAGACATGAGG -3'

Posted On

2013-05-09