Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Slc26a5'

448493

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

prestin, Pres

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22015653-22070602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22028561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 336 (F336V)

Ref Sequence

ENSEMBL: ENSMUSP00000030878 (fasta)

Gene Model

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

AlphaFold

Q99NH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030878
AA Change: F336V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: F336V

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

possibly damaging
Transcript: ENSMUST00000115176
AA Change: F299V

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: F299V

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: F336V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: F336V

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

possibly damaging
Transcript: ENSMUST00000142888
AA Change: F336V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118263
Gene: ENSMUSG00000029015
AA Change: F336V

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: 98.7%
10x: 97.3%
20x: 95.5%

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
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	probably 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
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'- AGCCCTTCACTGTGAGAAGC -3'
(R):5'- GGCACCCAGTCTATAGAGATAAC -3'

Sequencing Primer
(F):5'- AACCTGGTAGCCATGCTT -3'
(R):5'- AGAAAGCCGCTCTGCAG -3'

Posted On

2016-12-15