Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Whrn'

402069

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

C430046P22Rik, Dfnb31, wi, 1110035G07Rik

MMRRC Submission

042782-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63414910-63495991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63432714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 15 (V15E)

Ref Sequence

ENSEMBL: ENSMUSP00000114030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063650] [ENSMUST00000063672] [ENSMUST00000084510] [ENSMUST00000095037] [ENSMUST00000095038] [ENSMUST00000102867] [ENSMUST00000107393] [ENSMUST00000119294]

AlphaFold

Q80VW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063650
AA Change: V457E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: V457E

Domain	Start	End	E-Value	Type
low complexity region	3	38	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
PDZ	151	223	3.62e-21	SMART
PDZ	289	361	3.77e-19	SMART
low complexity region	522	541	N/A	INTRINSIC
low complexity region	629	642	N/A	INTRINSIC
PDZ	824	904	2.63e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000063672
AA Change: V457E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: V457E

Domain	Start	End	E-Value	Type
low complexity region	3	38	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
PDZ	151	223	3.62e-21	SMART
PDZ	289	361	3.77e-19	SMART
low complexity region	522	541	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084510
AA Change: V457E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: V457E

Domain	Start	End	E-Value	Type
low complexity region	3	38	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
PDZ	151	223	3.62e-21	SMART
PDZ	289	361	3.77e-19	SMART
low complexity region	522	541	N/A	INTRINSIC
low complexity region	640	653	N/A	INTRINSIC
PDZ	835	915	2.63e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095037

SMART Domains

Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	126	139	N/A	INTRINSIC
PDZ	321	401	2.63e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095038
AA Change: V15E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: V15E

Domain	Start	End	E-Value	Type
low complexity region	80	99	N/A	INTRINSIC
low complexity region	198	211	N/A	INTRINSIC
PDZ	393	473	2.63e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102867
AA Change: V457E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: V457E

Domain	Start	End	E-Value	Type
low complexity region	3	38	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
PDZ	151	223	3.62e-21	SMART
PDZ	289	361	3.77e-19	SMART
low complexity region	522	541	N/A	INTRINSIC
low complexity region	629	642	N/A	INTRINSIC
PDZ	823	903	2.63e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107393
AA Change: V461E

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: V461E

Domain	Start	End	E-Value	Type
low complexity region	3	38	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
PDZ	151	223	1.7e-23	SMART
PDZ	289	361	1.8e-21	SMART
low complexity region	526	545	N/A	INTRINSIC
low complexity region	633	646	N/A	INTRINSIC
PDZ	828	908	1.3e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119294
AA Change: V15E

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

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: V15E

Domain	Start	End	E-Value	Type
low complexity region	80	99	N/A	INTRINSIC
low complexity region	187	200	N/A	INTRINSIC
PDZ	382	462	2.63e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124016

Predicted Effect

probably benign
Transcript: ENSMUST00000144965

SMART Domains

Protein: ENSMUSP00000121944
Gene: ENSMUSG00000039137

Domain	Start	End	E-Value	Type
PDB:1UF1\|A	16	74	7e-33	PDB
SCOP:d1lcya1	32	74	1e-7	SMART
Blast:PDZ	40	74	5e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148957

Predicted Effect

probably benign
Transcript: ENSMUST00000145630

Meta Mutation Damage Score

0.6340

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: This gene encodes a protein required for elongation and actin polymerization in the hair cell stereocilia. The encoded protein is localized to the cytoplasm and co-localizes with the growing end of actin filaments. Mutations in this gene have been linked to deafness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. Targeted homozygotes lacking the long form show altered OHC stereocilia bundles but a milder phenotype with normal stereocilia in IHCs and a subset of vestibular HCs and no vestibular deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,793,594		probably benign	Het
Alg6	C	T	4: 99,719,194	L15F	possibly damaging	Het
Allc	T	A	12: 28,555,326	M325L	probably benign	Het
Ap3b2	T	C	7: 81,476,769	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,115,921		probably benign	Het
Borcs6	A	T	11: 69,060,848	T351S	probably damaging	Het
Casc1	A	T	6: 145,179,068	D510E	probably damaging	Het
Ccar1	T	C	10: 62,753,281	R808G	unknown	Het
Celsr3	A	T	9: 108,832,759	T1480S	probably benign	Het
Chdh	C	T	14: 30,031,361	P76S	probably damaging	Het
Chmp7	T	C	14: 69,732,306	S62G	probably benign	Het
Cldn23	A	T	8: 35,826,028	V102E	probably damaging	Het
Csn2	G	A	5: 87,694,962	Q69*	probably null	Het
Ctrc	A	C	4: 141,840,384	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,029,511	L253R	probably damaging	Het
Ddr2	G	A	1: 169,984,961	T654M	probably damaging	Het
Derl2	G	T	11: 71,019,247		probably null	Het
Dock5	T	C	14: 67,776,284	S1330G	probably benign	Het
Emp3	T	C	7: 45,919,949	N56S	probably benign	Het
Fam161a	A	T	11: 23,020,583	K195*	probably null	Het
Fam71b	T	C	11: 46,405,163	S121P	probably benign	Het
Ficd	T	A	5: 113,737,011	V47E	probably benign	Het
Gbp10	T	C	5: 105,224,709	T123A	probably benign	Het
Gdf7	C	T	12: 8,298,371	A309T	unknown	Het
Gm14486	G	T	2: 30,658,560		noncoding transcript	Het
Herc1	T	A	9: 66,399,869	C990*	probably null	Het
Itgb4	T	C	11: 116,006,539	V1530A	probably damaging	Het
Itpka	G	A	2: 119,750,493	R374H	probably damaging	Het
Lacc1	T	A	14: 77,034,154		probably null	Het
Med23	A	T	10: 24,895,836	K225*	probably null	Het
Mrgpra3	T	A	7: 47,590,161	T6S	probably benign	Het
Mroh7	T	A	4: 106,721,386	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,469,751	R207G	probably damaging	Het
Mup20	A	C	4: 62,051,586		probably null	Het
Nagpa	A	G	16: 5,199,614		probably null	Het
Nek3	A	T	8: 22,132,227		probably benign	Het
Nes	G	A	3: 87,978,628	G1398E	probably damaging	Het
Nf1	G	T	11: 79,454,189	V1323L	probably damaging	Het
Olfr1416	A	T	1: 92,479,872	F250I	probably benign	Het
Olfr1446	T	A	19: 12,890,437	I47F	probably benign	Het
Olfr791	T	C	10: 129,526,904	F226L	probably benign	Het
Paqr8	G	T	1: 20,935,258	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,266,462	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,392,517	K683E	probably damaging	Het
Pjvk	A	C	2: 76,650,390		probably null	Het
Pkd1l3	A	T	8: 109,633,191	S893C	probably damaging	Het
Plxna2	A	G	1: 194,788,899	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,688,352	I247N	probably damaging	Het
Rac2	T	C	15: 78,565,454	N92S	probably damaging	Het
Senp2	A	T	16: 22,041,380	H501L	possibly damaging	Het
Snx29	A	T	16: 11,738,363	I753F	probably damaging	Het
Tcf20	T	A	15: 82,856,185	H355L	probably damaging	Het
Tex2	T	C	11: 106,546,840	D668G	unknown	Het
Tlr12	G	A	4: 128,616,709	Q583*	probably null	Het
Tmem119	T	C	5: 113,795,228	I171V	probably damaging	Het
Ube2m	C	T	7: 13,036,322		probably null	Het
Vmn2r25	A	T	6: 123,840,103	I173N	probably damaging	Het
Zfp558	A	C	9: 18,457,000	V164G	possibly damaging	Het

Other mutations in Whrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Whrn	APN	4	63472778	missense	probably damaging	1.00
IGL01643:Whrn	APN	4	63416435	missense	possibly damaging	0.79
IGL02065:Whrn	APN	4	63418585	missense	possibly damaging	0.52
IGL02119:Whrn	APN	4	63435487	missense	probably damaging	0.99
IGL02589:Whrn	APN	4	63418097	nonsense	probably null
IGL02638:Whrn	APN	4	63419472	missense	possibly damaging	0.47
IGL02865:Whrn	APN	4	63415492	missense	probably benign	0.08
IGL02934:Whrn	APN	4	63416105	missense	probably damaging	1.00
IGL03372:Whrn	APN	4	63418618	missense	probably damaging	0.96
R0090:Whrn	UTSW	4	63432732	missense	possibly damaging	0.79
R0592:Whrn	UTSW	4	63415567	missense	probably damaging	1.00
R0631:Whrn	UTSW	4	63419489	missense	probably damaging	1.00
R1916:Whrn	UTSW	4	63494732	missense	probably damaging	1.00
R1933:Whrn	UTSW	4	63415639	nonsense	probably null
R1958:Whrn	UTSW	4	63435429	missense	possibly damaging	0.62
R2255:Whrn	UTSW	4	63418148	missense	possibly damaging	0.92
R2513:Whrn	UTSW	4	63435412	missense	probably benign	0.22
R3699:Whrn	UTSW	4	63461412	splice site	probably benign
R3919:Whrn	UTSW	4	63495184	nonsense	probably null
R4016:Whrn	UTSW	4	63415639	nonsense	probably null
R4241:Whrn	UTSW	4	63432973	unclassified	probably benign
R4517:Whrn	UTSW	4	63461280	critical splice donor site	probably null
R4739:Whrn	UTSW	4	63418165	missense	probably damaging	1.00
R5281:Whrn	UTSW	4	63418427	missense	probably benign	0.04
R5307:Whrn	UTSW	4	63431843	missense	probably benign	0.01
R5463:Whrn	UTSW	4	63432816	missense	probably benign	0.08
R5663:Whrn	UTSW	4	63418448	missense	probably damaging	0.98
R5754:Whrn	UTSW	4	63416588	missense	probably damaging	0.98
R5933:Whrn	UTSW	4	63494708	missense	probably damaging	1.00
R6212:Whrn	UTSW	4	63494686	nonsense	probably null
R6380:Whrn	UTSW	4	63418592	missense	possibly damaging	0.90
R6381:Whrn	UTSW	4	63472684	missense	probably benign	0.00
R7030:Whrn	UTSW	4	63495131	unclassified	probably benign
R7350:Whrn	UTSW	4	63431959	missense	possibly damaging	0.71
R7382:Whrn	UTSW	4	63418336	missense	probably benign
R7419:Whrn	UTSW	4	63416093	missense	possibly damaging	0.94
R8334:Whrn	UTSW	4	63494810	missense	probably damaging	1.00
R9378:Whrn	UTSW	4	63431842	missense	probably benign	0.00
X0009:Whrn	UTSW	4	63431911	missense	probably benign	0.00
Z1176:Whrn	UTSW	4	63415566	missense	probably damaging	1.00
Z1177:Whrn	UTSW	4	63418499	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCAGACTTCTTCTACCTGAGC -3'
(R):5'- TTCAGCCAGGATTTTACAAGGG -3'

Sequencing Primer
(F):5'- CCCTGATGCCTGCTTGTGAAG -3'
(R):5'- CCAGGATTTTACAAGGGCCCAG -3'

Posted On

2016-07-22