Mutagenetix > Incidental Mutation

Incidental Mutation 'R9281:Slc26a5'

703615

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

prestin, Pres

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9281 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22015653-22070602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22019051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 596 (D596V)

Ref Sequence

ENSEMBL: ENSMUSP00000030878 (fasta)

Gene Model

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

AlphaFold

Q99NH7

Predicted Effect

probably benign
Transcript: ENSMUST00000030878
AA Change: D596V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: D596V

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 benign
Transcript: ENSMUST00000115176
AA Change: D559V

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: D559V

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 benign
Transcript: ENSMUST00000127975
AA Change: D564V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: D564V

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 benign
Transcript: ENSMUST00000142888

SMART Domains

Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
2610021A01Rik	A	G	7: 41,274,184 (GRCm39)	I102M	possibly damaging	Het
2700049A03Rik	G	A	12: 71,205,687 (GRCm39)	V444I	possibly damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Ano1	A	T	7: 144,149,318 (GRCm39)	Y848N	probably damaging	Het
Arap2	C	T	5: 62,906,848 (GRCm39)	R57H	probably damaging	Het
Atp10b	C	T	11: 43,116,458 (GRCm39)	T935I	probably benign	Het
Bcl11b	A	G	12: 107,882,257 (GRCm39)	L686P	possibly damaging	Het
Bmp5	T	C	9: 75,683,856 (GRCm39)	V161A	probably benign	Het
C1qtnf3	A	G	15: 10,978,607 (GRCm39)	E196G	probably benign	Het
Cacng8	T	A	7: 3,460,608 (GRCm39)	F130L	probably damaging	Het
Cap1	A	G	4: 122,766,226 (GRCm39)	M4T	probably benign	Het
Ccdc57	T	C	11: 120,751,413 (GRCm39)	K886E	probably benign	Het
Cdhr2	A	C	13: 54,881,703 (GRCm39)	T1112P	possibly damaging	Het
Clcn4	A	T	7: 7,294,813 (GRCm39)	M316K	probably benign	Het
Col22a1	A	T	15: 71,732,920 (GRCm39)	D1099E	unknown	Het
Csmd3	A	C	15: 47,460,272 (GRCm39)	N2595K		Het
Ctdspl2	A	G	2: 121,841,063 (GRCm39)	H451R	probably benign	Het
Cybrd1	A	T	2: 70,968,735 (GRCm39)	T203S	probably benign	Het
Dhx29	A	G	13: 113,078,240 (GRCm39)	N312S	possibly damaging	Het
Dhx30	A	T	9: 109,929,983 (GRCm39)	S38T	probably benign	Het
Dync2i1	G	A	12: 116,211,677 (GRCm39)	R277*	probably null	Het
Ercc8	G	T	13: 108,320,364 (GRCm39)	A317S	probably benign	Het
Fndc3a	T	C	14: 72,799,097 (GRCm39)	T629A	probably benign	Het
Frmpd1	G	T	4: 45,284,127 (GRCm39)	A983S	probably benign	Het
Gm14325	T	A	2: 177,473,597 (GRCm39)	Y495F	probably damaging	Het
Gm5773	A	T	3: 93,680,891 (GRCm39)	T188S	probably benign	Het
Gpsm1	C	A	2: 26,214,488 (GRCm39)	N243K	probably damaging	Het
Inpp4a	C	G	1: 37,410,850 (GRCm39)	H339Q	probably damaging	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Kdm4a	A	G	4: 117,995,728 (GRCm39)	V1003A	probably damaging	Het
Lrrc25	T	A	8: 71,073,246 (GRCm39)	M276K	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmdc2	G	A	1: 9,994,425 (GRCm39)	G406D	probably damaging	Het
Mfhas1	G	T	8: 36,057,951 (GRCm39)	A809S	probably benign	Het
Mier2	A	T	10: 79,378,294 (GRCm39)	D376E	probably benign	Het
Mllt3	A	C	4: 87,707,566 (GRCm39)	H464Q	probably benign	Het
Mtrex	A	T	13: 113,046,443 (GRCm39)	C302*	probably null	Het
Myo6	T	A	9: 80,162,164 (GRCm39)	Y300*	probably null	Het
Myzap	T	C	9: 71,493,482 (GRCm39)	D31G	unknown	Het
Nfatc1	T	C	18: 80,741,190 (GRCm39)	Y270C	probably damaging	Het
Nsd3	T	C	8: 26,152,961 (GRCm39)	S434P	probably benign	Het
Or13p3	A	G	4: 118,566,592 (GRCm39)		probably benign	Het
Or1e26	T	A	11: 73,480,133 (GRCm39)	M144L	probably benign	Het
Osbp2	T	A	11: 3,813,375 (GRCm39)	T165S	probably benign	Het
Plxna1	A	G	6: 89,300,313 (GRCm39)	V1590A	probably damaging	Het
Pramel7	A	G	2: 87,321,495 (GRCm39)	L180P	probably damaging	Het
Prkd1	C	T	12: 50,536,758 (GRCm39)	D109N	probably benign	Het
Ptger3	A	G	3: 157,273,090 (GRCm39)	M146V	probably benign	Het
Pts	A	G	9: 50,433,853 (GRCm39)	V96A	probably damaging	Het
Rab11fip5	T	C	6: 85,318,834 (GRCm39)	E685G	probably benign	Het
Rab27a	C	T	9: 72,992,278 (GRCm39)	T102I	probably damaging	Het
Reln	A	G	5: 22,153,545 (GRCm39)	L2253P	probably damaging	Het
Rock1	C	T	18: 10,080,479 (GRCm39)	A1022T	probably benign	Het
Rspry1	T	A	8: 95,363,259 (GRCm39)	N259K	probably damaging	Het
Sdha	A	T	13: 74,472,056 (GRCm39)	Y604*	probably null	Het
Slc12a6	A	G	2: 112,164,754 (GRCm39)	N151S	probably benign	Het
Snrpa	A	G	7: 26,891,051 (GRCm39)	V140A	probably benign	Het
Spta1	T	G	1: 174,047,444 (GRCm39)	V1696G	probably damaging	Het
St13	A	T	15: 81,261,927 (GRCm39)	D179E	probably damaging	Het
Stpg4	T	C	17: 87,702,671 (GRCm39)	D182G	probably benign	Het
Synm	A	T	7: 67,386,048 (GRCm39)	L538*	probably null	Het
Tigar	A	T	6: 127,068,157 (GRCm39)	L87H	probably damaging	Het
Tmem67	C	A	4: 12,079,962 (GRCm39)	V110F	possibly damaging	Het
Trav6n-5	T	A	14: 53,342,744 (GRCm39)	L94*	probably null	Het
Ttf1	A	G	2: 28,955,902 (GRCm39)	H422R	probably benign	Het
Ttn	A	G	2: 76,619,926 (GRCm39)	V15914A	probably damaging	Het
Vmn2r13	C	A	5: 109,303,953 (GRCm39)	C826F	probably damaging	Het
Wwc1	C	G	11: 35,780,211 (GRCm39)	G248A	probably benign	Het
Zfp120	G	A	2: 149,959,615 (GRCm39)	H258Y	probably damaging	Het
Zfp142	A	G	1: 74,607,731 (GRCm39)	Y1681H	probably damaging	Het
Zkscan3	A	G	13: 21,579,045 (GRCm39)	L150P	possibly damaging	Het
Zscan4-ps1	G	T	7: 10,799,589 (GRCm39)	F433L	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
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
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'- GAATCCACAAAATTGACCTGCG -3'
(R):5'- TGTGTGCCTGAAGAAATTTAGC -3'

Sequencing Primer
(F):5'- TGACCTGCGTAAAGTCTAGAATGAC -3'
(R):5'- GGCTCAGCAGTTATAAGCATTG -3'

Posted On

2022-03-25