Mutagenetix > Incidental Mutation

Incidental Mutation 'R6974:Slc26a5'

542341

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

prestin, Pres

MMRRC Submission

045084-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22015653-22070602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22045570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 133 (S133P)

Ref Sequence

ENSEMBL: ENSMUSP00000118263 (fasta)

Gene Model

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

AlphaFold

Q99NH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030878
AA Change: S133P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: S133P

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

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015

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 damaging
Transcript: ENSMUST00000127975
AA Change: S133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: S133P

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: S133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
AA Change: S133P

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: 99.2%
20x: 97.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,206,221 (GRCm39)	N67K	probably benign	Het
Amotl1	C	A	9: 14,556,216 (GRCm39)	E37*	probably null	Het
Ap4b1	C	A	3: 103,720,601 (GRCm39)	Y90*	probably null	Het
Apc	A	G	18: 34,431,480 (GRCm39)	E277G	possibly damaging	Het
Atl1	T	A	12: 69,972,813 (GRCm39)	H44Q	probably damaging	Het
Atp6v0b	G	A	4: 117,742,864 (GRCm39)	T74M	probably benign	Het
Auts2	T	C	5: 131,469,437 (GRCm39)	T627A	probably benign	Het
B4galnt4	T	A	7: 140,647,449 (GRCm39)	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,731,148 (GRCm39)	S338P	probably damaging	Het
Cfap43	A	C	19: 47,773,717 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,362,538 (GRCm39)		probably benign	Het
Col7a1	A	C	9: 108,798,494 (GRCm39)	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,935,750 (GRCm39)	S90T	probably benign	Het
Csrnp3	T	C	2: 65,779,408 (GRCm39)	V40A	possibly damaging	Het
Ephx1	C	A	1: 180,827,287 (GRCm39)		probably null	Het
Erich6	C	A	3: 58,526,220 (GRCm39)	R594L	probably benign	Het
F2rl2	A	T	13: 95,837,038 (GRCm39)	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,639,740 (GRCm39)	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,790,977 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,809,061 (GRCm39)	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcnt3	A	G	9: 69,942,169 (GRCm39)	I133T	probably damaging	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Hoxa1	T	A	6: 52,135,021 (GRCm39)	I61F	probably damaging	Het
Impact	C	T	18: 13,115,169 (GRCm39)	L102F	probably damaging	Het
Ist1	A	T	8: 110,404,284 (GRCm39)	I196N	probably damaging	Het
Kcnv2	T	A	19: 27,311,282 (GRCm39)	S550T	probably benign	Het
Krt1c	A	T	15: 101,726,314 (GRCm39)	S75T	unknown	Het
Krtap21-1	A	G	16: 89,200,466 (GRCm39)	S59P	unknown	Het
Lef1	A	T	3: 130,905,223 (GRCm39)	I35F	probably damaging	Het
Lpcat2	A	C	8: 93,599,707 (GRCm39)	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,538,649 (GRCm39)	N142K	probably benign	Het
Mdh1b	G	A	1: 63,760,975 (GRCm39)	H88Y	probably benign	Het
Mettl26	A	G	17: 26,095,658 (GRCm39)	D171G	probably damaging	Het
Mrps24	A	T	11: 5,654,663 (GRCm39)	M97K	probably benign	Het
Ms4a14	A	T	19: 11,279,499 (GRCm39)	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,940,854 (GRCm39)	I338K	probably benign	Het
Odad2	A	T	18: 7,294,479 (GRCm39)	Y45N	probably benign	Het
Or1e22	A	G	11: 73,377,299 (GRCm39)	I117T	probably benign	Het
Or4p20	T	C	2: 88,254,156 (GRCm39)	Y71C	possibly damaging	Het
Or52s1b	T	A	7: 102,822,442 (GRCm39)	H134L	probably damaging	Het
Or7g12	T	A	9: 18,899,689 (GRCm39)	I135N	probably damaging	Het
Paqr3	T	A	5: 97,256,146 (GRCm39)	H76L	probably damaging	Het
Parp1	T	A	1: 180,417,071 (GRCm39)	Y618*	probably null	Het
Pilrb2	C	T	5: 137,870,049 (GRCm39)		probably benign	Het
Pkm	A	G	9: 59,575,853 (GRCm39)	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,078,459 (GRCm39)		probably null	Het
Plppr4	C	T	3: 117,116,667 (GRCm39)	V339I	probably damaging	Het
Pnkp	T	A	7: 44,510,462 (GRCm39)	D304E	probably damaging	Het
Pnlip	T	C	19: 58,668,067 (GRCm39)		probably null	Het
Polr2a	A	G	11: 69,638,026 (GRCm39)	C148R	probably damaging	Het
Ppp1r10	G	A	17: 36,240,443 (GRCm39)	G578S	probably benign	Het
Ptges2	C	T	2: 32,287,683 (GRCm39)	T137I	possibly damaging	Het
Ptpre	T	C	7: 135,270,877 (GRCm39)	V344A	possibly damaging	Het
Rag1	A	G	2: 101,472,137 (GRCm39)	F1002L	probably damaging	Het
Rcn2	T	A	9: 55,960,298 (GRCm39)	Y188*	probably null	Het
Rest	A	G	5: 77,416,046 (GRCm39)	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,675,568 (GRCm39)	D913N	probably damaging	Het
Scp2	A	G	4: 107,928,475 (GRCm39)	M1T	probably null	Het
Slamf8	T	A	1: 172,415,590 (GRCm39)	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,248,844 (GRCm39)	F75Y	possibly damaging	Het
Sncb	A	T	13: 54,910,487 (GRCm39)	V83E	probably damaging	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Trim38	A	G	13: 23,973,502 (GRCm39)	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,286,628 (GRCm39)	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,058,495 (GRCm39)	R684G	probably benign	Het
Wdr59	T	C	8: 112,187,420 (GRCm39)	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,244,527 (GRCm39)	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,646,824 (GRCm39)	T333K	probably damaging	Het
Zfp119b	A	G	17: 56,245,564 (GRCm39)	S509P	probably benign	Het
Zfp365	T	A	10: 67,745,594 (GRCm39)	K61N	probably damaging	Het
Zfp553	T	C	7: 126,835,825 (GRCm39)	F460S	probably damaging	Het
Zfp788	C	T	7: 41,299,301 (GRCm39)	Q594*	probably null	Het
Zfp984	T	A	4: 147,845,707 (GRCm39)	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,347,566 (GRCm39)	Y291*	probably null	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
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'- TGAACCCAGTCGGAACAAG -3'
(R):5'- GCAGGCCAGACACATATAGTTAC -3'

Sequencing Primer
(F):5'- GTGTTCAATTACCAACGTACATCC -3'
(R):5'- CACCTGTTTATCAGAAACCAAGGGG -3'

Posted On

2018-11-28