Mutagenetix > Incidental Mutation

Incidental Mutation 'R6525:Slc26a5'

521688

Institutional Source

Beutler Lab

Gene Symbol

Slc26a5

Ensembl Gene

ENSMUSG00000029015

Gene Name

solute carrier family 26, member 5

Synonyms

prestin, Pres

MMRRC Submission

044651-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22015653-22070602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22025348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 457 (D457G)

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: D457G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030878
Gene: ENSMUSG00000029015
AA Change: D457G

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: D420G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110830
Gene: ENSMUSG00000029015
AA Change: D420G

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

SMART Domains

Protein: ENSMUSP00000118029
Gene: ENSMUSG00000029015

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150012

Meta Mutation Damage Score

0.5556

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.0%

Validation Efficiency

96% (71/74)

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
Abca4	A	G	3: 121,931,308 (GRCm39)	E1447G	probably benign	Het
Acss2	A	G	2: 155,392,337 (GRCm39)	N261S	probably benign	Het
Adcy8	C	A	15: 64,609,243 (GRCm39)	G859*	probably null	Het
Agbl3	A	T	6: 34,780,529 (GRCm39)	K496*	probably null	Het
Antxrl	A	T	14: 33,782,363 (GRCm39)	D182V	probably damaging	Het
Arid5b	A	G	10: 67,933,496 (GRCm39)	L559P	possibly damaging	Het
Azi2	T	A	9: 117,876,663 (GRCm39)	S60T	probably damaging	Het
Bahcc1	T	C	11: 120,176,048 (GRCm39)	Y1931H	probably damaging	Het
Cnga1	T	A	5: 72,775,574 (GRCm39)	E49V	probably damaging	Het
Col3a1	A	G	1: 45,386,339 (GRCm39)	N160D	possibly damaging	Het
Crem	C	A	18: 3,268,070 (GRCm39)	R267L	probably damaging	Het
Ddx52	T	C	11: 83,844,145 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,534,926 (GRCm39)	I127T	probably damaging	Het
Dop1b	T	A	16: 93,606,304 (GRCm39)	Y2094N	probably damaging	Het
Dst	C	A	1: 34,202,216 (GRCm39)	N181K	probably damaging	Het
Dusp7	A	G	9: 106,246,483 (GRCm39)	K163E	possibly damaging	Het
Dynlt1a	T	A	17: 6,362,014 (GRCm39)	T55S	probably benign	Het
Enpp2	T	C	15: 54,733,607 (GRCm39)	N451S	probably benign	Het
Faap100	C	A	11: 120,269,590 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,262 (GRCm39)	N148S	probably damaging	Het
Fat2	T	C	11: 55,174,626 (GRCm39)	D2029G	probably damaging	Het
Flcn	A	T	11: 59,684,998 (GRCm39)	N484K	possibly damaging	Het
Gbp10	T	A	5: 105,383,950 (GRCm39)	E17D	probably benign	Het
Gm14226	T	C	2: 154,867,003 (GRCm39)	V320A	possibly damaging	Het
Gna13	T	C	11: 109,286,765 (GRCm39)	I196T	probably damaging	Het
Gorasp1	G	T	9: 119,757,061 (GRCm39)	P374T	possibly damaging	Het
Hc	T	C	2: 34,881,236 (GRCm39)	D1461G	probably benign	Het
Hmcn1	T	C	1: 150,573,317 (GRCm39)	N2111D	probably damaging	Het
Hs3st3b1	G	A	11: 63,812,424 (GRCm39)	S97L	probably benign	Het
Hsdl2	A	G	4: 59,612,696 (GRCm39)	T296A	probably damaging	Het
Impg2	A	G	16: 56,025,512 (GRCm39)	D48G	probably damaging	Het
Kbtbd12	A	T	6: 88,591,062 (GRCm39)	N383K	probably benign	Het
Kcnj12	T	G	11: 60,960,397 (GRCm39)	F232V	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Homo
Ldhb	T	C	6: 142,436,191 (GRCm39)	D326G	probably benign	Het
Lrrc49	A	G	9: 60,505,432 (GRCm39)	L607S	probably damaging	Het
Ltn1	A	G	16: 87,217,074 (GRCm39)	S388P	probably damaging	Het
Mansc4	A	G	6: 146,976,645 (GRCm39)	S324P	probably benign	Het
Meltf	G	A	16: 31,707,717 (GRCm39)	W368*	probably null	Het
Nacad	A	G	11: 6,552,255 (GRCm39)	L312P	probably damaging	Het
Ndc1	G	T	4: 107,225,304 (GRCm39)	G7W	probably benign	Het
Nmral1	T	A	16: 4,532,296 (GRCm39)	K172*	probably null	Het
Nol9	G	T	4: 152,123,906 (GRCm39)	R32L	probably damaging	Het
Nsun5	A	G	5: 135,403,912 (GRCm39)	Y296C	probably damaging	Het
Or4k51	C	T	2: 111,585,329 (GRCm39)	T245I	probably benign	Het
Oscp1	A	G	4: 125,970,571 (GRCm39)	D120G	possibly damaging	Het
Parp14	C	T	16: 35,680,811 (GRCm39)	C274Y	probably benign	Het
Pced1b	T	A	15: 97,282,679 (GRCm39)	H239Q	possibly damaging	Het
Pgap1	T	C	1: 54,521,048 (GRCm39)	I865V	probably benign	Het
Ppp6r3	T	A	19: 3,543,936 (GRCm39)	S360C	probably damaging	Het
Prb1a	A	G	6: 132,184,467 (GRCm39)	S389P	unknown	Het
Prr16	T	G	18: 51,436,227 (GRCm39)	S235R	probably benign	Het
Rab11fip1	T	C	8: 27,646,527 (GRCm39)	N183S	probably benign	Het
Rcn1	A	G	2: 105,219,320 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,325,288 (GRCm39)	A374S	probably benign	Het
Skint8	A	T	4: 111,785,935 (GRCm39)	D127V	probably damaging	Het
Slc12a6	A	G	2: 112,182,796 (GRCm39)	K724E	probably damaging	Het
Slc13a3	T	C	2: 165,248,667 (GRCm39)	N537S	unknown	Het
Slx4ip	T	C	2: 136,842,138 (GRCm39)	V21A	possibly damaging	Het
Stt3b	A	G	9: 115,087,626 (GRCm39)	Y291H	probably damaging	Het
Syn3	G	A	10: 86,302,916 (GRCm39)	P80S	probably damaging	Het
Tasor2	G	A	13: 3,626,540 (GRCm39)	Q455*	probably null	Het
Tiam1	A	T	16: 89,655,485 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,993,399 (GRCm39)	D58G	probably damaging	Het
Tmprss15	T	A	16: 78,800,266 (GRCm39)	I621F	probably damaging	Het
Tns1	C	T	1: 73,992,629 (GRCm39)	S683N	probably damaging	Het
Ttn	A	G	2: 76,773,436 (GRCm39)	L2322P	probably damaging	Het
Ugdh	G	T	5: 65,574,402 (GRCm39)	H409N	probably damaging	Het
Vmn2r81	T	A	10: 79,129,560 (GRCm39)	M817K	probably benign	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zbtb34	A	G	2: 33,302,145 (GRCm39)	V132A	probably damaging	Het
Zfp119b	A	G	17: 56,246,992 (GRCm39)	C33R	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
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'- TTCCCTACGAAGTATGCACGC -3'
(R):5'- AGAGCCCCTTGAGGAGTAAG -3'

Sequencing Primer
(F):5'- AGGTACACAGATGCGCATAC -3'
(R):5'- CCCCTTGAGGAGTAAGTGGGG -3'

Posted On

2018-06-06