Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Slc26a5'

590738

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

prestin, Pres

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22015653-22070602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22039328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 259 (V259M)

Ref Sequence

ENSEMBL: ENSMUSP00000030878 (fasta)

Gene Model

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

AlphaFold

Q99NH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030878
AA Change: V259M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: V259M

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 damaging
Transcript: ENSMUST00000115176
AA Change: V222M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: V222M

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

possibly damaging
Transcript: ENSMUST00000127975
AA Change: V259M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: V259M

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 damaging
Transcript: ENSMUST00000142888
AA Change: V259M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
AA Change: V259M

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

Meta Mutation Damage Score

0.1157

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,399,214 (GRCm39)	V3I	probably benign	Het
Adam33	T	C	2: 130,903,067 (GRCm39)	E59G	probably damaging	Het
Akap13	T	A	7: 75,293,202 (GRCm39)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,074,387 (GRCm39)	S28P	probably benign	Het
Btnl2	T	C	17: 34,577,103 (GRCm39)	L86P	probably damaging	Het
Carm1	G	A	9: 21,491,668 (GRCm39)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,196,036 (GRCm39)	D283N	probably benign	Het
Cfap58	C	A	19: 47,974,967 (GRCm39)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,020,214 (GRCm39)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,715,543 (GRCm39)	D220G	probably benign	Het
Ddias	C	T	7: 92,508,143 (GRCm39)	G591R	probably benign	Het
Defb22	A	T	2: 152,328,023 (GRCm39)	I54K	probably benign	Het
Dennd4b	G	A	3: 90,176,056 (GRCm39)	W202*	probably null	Het
F2	T	C	2: 91,458,741 (GRCm39)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fanca	A	T	8: 123,995,303 (GRCm39)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,336,883 (GRCm39)	N1418S	probably damaging	Het
Gak	A	G	5: 108,732,161 (GRCm39)	S776P	probably benign	Het
Gbf1	A	G	19: 46,260,978 (GRCm39)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,327,925 (GRCm39)	E294K	probably benign	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,838,806 (GRCm39)		probably benign	Het
Gxylt1	C	T	15: 93,143,539 (GRCm39)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,274,726 (GRCm39)	M396L	probably benign	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,753,602 (GRCm39)	Q828L	probably damaging	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Il10	A	T	1: 130,949,192 (GRCm39)	T118S	probably benign	Het
Itpr2	C	T	6: 146,135,492 (GRCm39)	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,595,530 (GRCm39)	Q100L	probably damaging	Het
Kin	A	G	2: 10,096,979 (GRCm39)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,584,379 (GRCm39)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,748,751 (GRCm39)	A2858T	unknown	Het
Krt8	G	A	15: 101,912,598 (GRCm39)	T26M	probably benign	Het
Lama3	T	A	18: 12,670,895 (GRCm39)	M827K	probably benign	Het
Lingo3	T	C	10: 80,671,597 (GRCm39)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Metap1	A	G	3: 138,172,128 (GRCm39)	V263A	probably damaging	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Muc5ac	A	G	7: 141,363,159 (GRCm39)	T2157A	unknown	Het
Myo1d	G	T	11: 80,492,510 (GRCm39)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,638,202 (GRCm39)	N419K	probably benign	Het
Nol10	T	C	12: 17,412,683 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,594,105 (GRCm39)	L284P	probably damaging	Het
Nrp1	T	A	8: 129,224,495 (GRCm39)	W753R	possibly damaging	Het
Obscn	A	G	11: 58,951,820 (GRCm39)	S3978P	probably benign	Het
Opa3	C	A	7: 18,978,896 (GRCm39)	N120K	probably benign	Het
Or5k17	T	A	16: 58,746,416 (GRCm39)	R173*	probably null	Het
Or8g53	A	T	9: 39,683,169 (GRCm39)	F309Y	probably benign	Het
Pabpc1l	T	C	2: 163,891,510 (GRCm39)	L576S	probably benign	Het
Panx3	A	G	9: 37,572,701 (GRCm39)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,667 (GRCm39)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,606,423 (GRCm39)		probably null	Het
Pkd1l3	T	C	8: 110,399,217 (GRCm39)	V2200A	probably benign	Het
Pkp3	G	A	7: 140,662,283 (GRCm39)	M112I	probably benign	Het
Prex2	T	C	1: 11,220,078 (GRCm39)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,460,684 (GRCm39)	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,640,876 (GRCm39)	V56A	possibly damaging	Het
Pus7	G	T	5: 23,965,244 (GRCm39)	T304K	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Ros1	C	T	10: 51,922,305 (GRCm39)	G2277D	probably benign	Het
Rpain	A	T	11: 70,861,271 (GRCm39)		probably benign	Het
Shh	C	A	5: 28,663,304 (GRCm39)	S288I	probably benign	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,618,363 (GRCm39)	N771I	probably damaging	Het
Stim1	T	A	7: 102,078,034 (GRCm39)	S179T		Het
Syk	A	G	13: 52,765,131 (GRCm39)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,864,074 (GRCm39)	S727A	probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,853,377 (GRCm39)	D1799V	possibly damaging	Het
Ube4a	A	T	9: 44,844,734 (GRCm39)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,228,831 (GRCm39)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,843,568 (GRCm39)	Q290L	possibly damaging	Het
Vcl	T	A	14: 21,045,114 (GRCm39)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,521,147 (GRCm39)	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,677,851 (GRCm39)	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,774,580 (GRCm39)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,269,117 (GRCm39)	V100L	probably damaging	Het
Zfp942	A	T	17: 22,147,818 (GRCm39)	S270R	probably benign	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
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
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'- ATCAGGTGTATGCAGTCCCAG -3'
(R):5'- GTCCATAACAAAGCATATCTCCTTG -3'

Sequencing Primer
(F):5'- TATGCAGTCCCAGGGCTGAAC -3'
(R):5'- CTGGAATCTATTTCAGCAACGGAGAC -3'

Posted On

2019-10-24