Mutagenetix > Incidental Mutations

Incidental Mutation 'R7027:Slc26a5'

546033

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

Pres, prestin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21810655-21865604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21816974 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 485 (T485S)

Ref Sequence

ENSEMBL: ENSMUSP00000118029 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030878
AA Change: T517S

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: T517S

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: T480S

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: T480S

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: T485S

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015
AA Change: T485S

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (85/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	G	2: 85,485,527	Y440H	probably damaging	Het
Acoxl	A	T	2: 128,010,083	M102L	probably benign	Het
Adcy10	A	G	1: 165,518,246	E288G	probably damaging	Het
Agap1	A	G	1: 89,888,722	H748R	probably benign	Het
Ahsg	T	C	16: 22,892,257	L48P	probably damaging	Het
Ankrd27	A	G	7: 35,612,526	T394A	probably benign	Het
Apc	T	G	18: 34,312,076	V657G	probably damaging	Het
Arl2	T	C	19: 6,141,089	T5A	probably benign	Het
B020011L13Rik	A	G	1: 117,801,450	Y229C	probably benign	Het
B3gnt5	T	A	16: 19,769,990	S320T	probably damaging	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
BC107364	T	G	3: 96,440,741	R77S	unknown	Het
Brox	G	A	1: 183,284,186	P206L	possibly damaging	Het
Ccrl2	T	C	9: 111,055,885	K182E	probably benign	Het
Cd19	A	G	7: 126,410,499	V465A	possibly damaging	Het
Chrdl2	A	T	7: 100,022,033	Q126H	probably damaging	Het
Cnbd1	G	A	4: 18,862,063	P376S	probably benign	Het
Cobll1	A	G	2: 65,089,503	S1194P	probably benign	Het
Col6a4	T	C	9: 106,067,014	Y1087C	probably damaging	Het
Col9a2	G	A	4: 121,044,019		probably null	Het
Cyp4v3	A	G	8: 45,310,252	S341P	possibly damaging	Het
Dnah7a	T	A	1: 53,631,506	Y529F	probably benign	Het
Eif3b	C	T	5: 140,425,288	R165W	probably damaging	Het
Erlec1	C	A	11: 30,950,790	C126F	probably damaging	Het
Fat2	T	C	11: 55,269,433	T3285A	probably benign	Het
Fat2	G	A	11: 55,281,851	R2679*	probably null	Het
Fbxo31	T	C	8: 121,578,485	T91A	probably damaging	Het
Fkbp5	A	G	17: 28,412,063	Y243H	probably damaging	Het
Flcn	C	T	11: 59,795,806	V374M	probably damaging	Het
Fndc5	A	G	4: 129,139,523	M128V	probably benign	Het
Gal3st1	A	G	11: 3,999,002	D403G	probably damaging	Het
Garem1	T	C	18: 21,129,994	N588D	probably benign	Het
Gas1	T	C	13: 60,176,233	T196A	probably damaging	Het
Gcn1l1	T	C	5: 115,616,546		probably null	Het
Gprc5d	T	G	6: 135,116,648	Q87P	probably damaging	Het
Grm1	A	G	10: 10,719,595	L763P	probably damaging	Het
Hivep2	G	T	10: 14,149,577	K2378N	probably damaging	Het
Hivep2	G	T	10: 14,149,578	D2379Y	probably damaging	Het
Itgad	A	G	7: 128,182,989	Y199C	probably damaging	Het
Itm2c	A	G	1: 85,906,485	I174V	probably benign	Het
Khdrbs2	A	G	1: 32,414,916	S128G	probably benign	Het
Map3k9	T	C	12: 81,730,624	T528A	probably benign	Het
Mmp11	G	A	10: 75,932,396		probably benign	Het
Mycbpap	T	A	11: 94,514,614	I30F	probably damaging	Het
Nfya	T	C	17: 48,389,312	T335A	probably benign	Het
Npat	T	A	9: 53,569,916	S1008T	possibly damaging	Het
Olfr1145	A	G	2: 87,810,716	T299A	possibly damaging	Het
Olfr121	G	A	17: 37,752,409	C185Y	probably damaging	Het
Olfr494	A	T	7: 108,368,350	M287L	probably damaging	Het
Olfr818	C	T	10: 129,945,172	A297T	possibly damaging	Het
Osbpl10	T	C	9: 115,223,698	V613A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,111	W407R	probably benign	Het
Pcdhgb4	A	G	18: 37,721,362	D270G	probably damaging	Het
Pde2a	A	C	7: 101,511,597	E918D	probably damaging	Het
Plekhg5	A	G	4: 152,113,974	D873G	probably benign	Het
Pno1	A	T	11: 17,208,880	S173T	possibly damaging	Het
Ppfia3	A	G	7: 45,354,736	I494T	possibly damaging	Het
Prkrip1	C	A	5: 136,181,413		probably benign	Het
Psma5	A	G	3: 108,265,168	I67V	probably benign	Het
Reep6	G	A	10: 80,333,965		probably null	Het
Rtl1	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC	12: 109,591,414		probably benign	Het
Scyl2	C	G	10: 89,645,461		probably null	Het
Sdk1	T	A	5: 142,096,726		probably null	Het
Senp5	C	A	16: 31,989,295	K380N	probably benign	Het
Slc22a14	A	T	9: 119,231,215		probably null	Het
Slc44a5	T	C	3: 154,253,719	I349T	probably benign	Het
Smarca5	T	C	8: 80,736,726	E71G	probably benign	Het
Smok2a	A	T	17: 13,225,779	H81L	probably damaging	Het
Snrnp200	A	G	2: 127,217,272	D388G	probably benign	Het
Tank	T	C	2: 61,653,422	V404A	probably benign	Het
Tek	A	G	4: 94,865,510	D1063G	probably damaging	Het
Tfap2a	C	T	13: 40,733,674	C16Y	probably benign	Het
Tmc1	A	G	19: 20,940,903		probably null	Het
Tnc	A	G	4: 63,984,589	F1484L	probably benign	Het
Tnfsf13	T	A	11: 69,685,132		probably null	Het
Tnrc6c	T	A	11: 117,733,618	S919T	probably damaging	Het
Trim17	C	A	11: 58,968,616	Q219K	probably benign	Het
Trim5	T	A	7: 104,265,668	H389L	probably benign	Het
Trio	T	A	15: 27,805,654	M583L	possibly damaging	Het
Ttll10	A	T	4: 156,035,801	H389Q	possibly damaging	Het
Usp24	T	C	4: 106,362,244	S546P	probably benign	Het
Vmn1r19	T	A	6: 57,404,490	Y9*	probably null	Het
Vmn2r50	T	A	7: 10,047,612	D402V	probably damaging	Het
Vmn2r93	C	A	17: 18,313,286	A484E	probably benign	Het
Vps13a	T	C	19: 16,664,664	T2200A	probably benign	Het
Wdr36	T	A	18: 32,841,905	H103Q	probably benign	Het
Zfp534	G	A	4: 147,675,210	T334I	possibly damaging	Het
Zfp804b	C	T	5: 6,770,372	S897N	probably benign	Het

Other mutations in Slc26a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Slc26a5	APN	5	21815736	missense	probably damaging	1.00
IGL02486:Slc26a5	APN	5	21846325	missense	probably damaging	1.00
IGL02639:Slc26a5	APN	5	21819767	missense	probably damaging	1.00
IGL02810:Slc26a5	APN	5	21813383	splice site	probably benign
R0002:Slc26a5	UTSW	5	21814983	missense	probably damaging	1.00
R0002:Slc26a5	UTSW	5	21814983	missense	probably damaging	1.00
R0089:Slc26a5	UTSW	5	21811344	splice site	probably null
R0136:Slc26a5	UTSW	5	21834347	missense	probably damaging	1.00
R0212:Slc26a5	UTSW	5	21823549	nonsense	probably null
R0522:Slc26a5	UTSW	5	21846345	missense	probably damaging	0.96
R0557:Slc26a5	UTSW	5	21819764	missense	probably damaging	1.00
R0711:Slc26a5	UTSW	5	21847232	missense	probably damaging	1.00
R0959:Slc26a5	UTSW	5	21816961	missense	probably benign	0.01
R1214:Slc26a5	UTSW	5	21814983	missense	probably damaging	1.00
R1471:Slc26a5	UTSW	5	21816964	missense	probably benign	0.12
R1647:Slc26a5	UTSW	5	21813976	nonsense	probably null
R1648:Slc26a5	UTSW	5	21813976	nonsense	probably null
R1861:Slc26a5	UTSW	5	21816958	missense	possibly damaging	0.93
R1875:Slc26a5	UTSW	5	21815727	missense	probably benign	0.03
R2106:Slc26a5	UTSW	5	21823544	missense	probably damaging	1.00
R2169:Slc26a5	UTSW	5	21813865	missense	probably damaging	1.00
R2219:Slc26a5	UTSW	5	21823478	missense	probably damaging	1.00
R2276:Slc26a5	UTSW	5	21823547	missense	probably benign	0.39
R2281:Slc26a5	UTSW	5	21831510	missense	possibly damaging	0.94
R2325:Slc26a5	UTSW	5	21819694	missense	probably damaging	1.00
R4031:Slc26a5	UTSW	5	21847191	missense	probably damaging	1.00
R4793:Slc26a5	UTSW	5	21837994	missense	probably damaging	1.00
R4941:Slc26a5	UTSW	5	21820386	missense	probably damaging	1.00
R5122:Slc26a5	UTSW	5	21847196	missense	probably damaging	1.00
R5274:Slc26a5	UTSW	5	21813901	missense	possibly damaging	0.74
R5312:Slc26a5	UTSW	5	21847260	missense	probably damaging	0.99
R5628:Slc26a5	UTSW	5	21816976	missense	probably benign	0.20
R5806:Slc26a5	UTSW	5	21823563	missense	probably damaging	1.00
R6227:Slc26a5	UTSW	5	21821097	missense	probably damaging	1.00
R6525:Slc26a5	UTSW	5	21820350	missense	possibly damaging	0.77
R6609:Slc26a5	UTSW	5	21819719	missense	possibly damaging	0.93
R6885:Slc26a5	UTSW	5	21834344	missense	probably damaging	1.00
R6974:Slc26a5	UTSW	5	21840572	missense	probably damaging	1.00
R7001:Slc26a5	UTSW	5	21811336	missense	probably damaging	1.00
R7174:Slc26a5	UTSW	5	21813894	missense	probably damaging	1.00
R7184:Slc26a5	UTSW	5	21837246	nonsense	probably null
R7650:Slc26a5	UTSW	5	21834330	missense	possibly damaging	0.96
R8431:Slc26a5	UTSW	5	21813906	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTGTGCTTATGTACCCATTCTC -3'
(R):5'- TCCACTGGACAGTAAACAGGG -3'

Sequencing Primer
(F):5'- GGTAGTTACCATACAGTATAGAGCAC -3'
(R):5'- CAGTAAACAGGGATGGCCTCTC -3'

Posted On

2019-05-13