Mutagenetix > Incidental Mutation

Incidental Mutation 'R4241:Whrn'

320208

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

C430046P22Rik, Dfnb31, wi, 1110035G07Rik

MMRRC Submission

041058-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63414910-63495991 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 63432973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000063650

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137

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 benign
Transcript: ENSMUST00000063672

SMART Domains

Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137

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 benign
Transcript: ENSMUST00000084510

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137

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 benign
Transcript: ENSMUST00000095038

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137

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 benign
Transcript: ENSMUST00000102867

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137

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

probably benign
Transcript: ENSMUST00000107393

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137

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 benign
Transcript: ENSMUST00000119294

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137

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

probably benign
Transcript: ENSMUST00000145630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153307

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (49/50)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,154,335	S1575G	probably damaging	Het
Agl	A	T	3: 116,754,848		probably benign	Het
Ap5b1	C	T	19: 5,568,797	L82F	possibly damaging	Het
Arfgef3	A	G	10: 18,625,164	S1113P	probably damaging	Het
Atoh1	A	C	6: 64,729,774	N151T	probably damaging	Het
Bcas3	T	A	11: 85,470,826	S25R	probably damaging	Het
Blcap	T	A	2: 157,560,423		probably benign	Het
Btbd6	C	T	12: 112,976,796	A13V	probably benign	Het
Ccdc83	A	C	7: 90,247,138	N74K	probably damaging	Het
Cdh9	A	G	15: 16,849,079		probably null	Het
Chd1	C	T	17: 15,770,027	R1614*	probably null	Het
Col16a1	G	T	4: 130,099,050	Q1567H	probably damaging	Het
Coq6	A	T	12: 84,373,789		probably benign	Het
Cpd	T	C	11: 76,846,785	D61G	probably benign	Het
Csnk1e	A	G	15: 79,424,895	F277S	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,779,586		noncoding transcript	Het
Dbt	T	C	3: 116,533,296	I98T	probably damaging	Het
Eif3e	G	A	15: 43,262,690	T287I	probably damaging	Het
Gm7135	A	G	1: 97,353,953		noncoding transcript	Het
Gpr176	A	T	2: 118,279,610	S389R	probably benign	Het
Hax1	A	G	3: 89,995,690	S257P	probably damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,448,348		probably null	Het
Ighv1-53	C	T	12: 115,158,822	C5Y	probably benign	Het
Klhl13	T	A	X: 23,315,175	D2V	probably damaging	Het
Kynu	A	T	2: 43,681,410	H446L	probably benign	Het
Lingo1	A	G	9: 56,620,102	F401S	probably damaging	Het
Lmbrd1	C	T	1: 24,692,968	Q89*	probably null	Het
Mov10	T	A	3: 104,797,276	Q773L	probably benign	Het
Olfr1356	T	A	10: 78,847,905	R3S	probably benign	Het
Olfr596	G	T	7: 103,310,661	*313Y	probably null	Het
Pde6c	G	A	19: 38,162,845	G608S	probably damaging	Het
Peli3	T	C	19: 4,932,398	H413R	probably damaging	Het
Pkdrej	C	T	15: 85,818,144	R1197Q	probably damaging	Het
Rcan2	T	A	17: 43,953,479	V10D	probably benign	Het
Slc10a5	A	G	3: 10,335,460	S47P	probably damaging	Het
Sprr3	A	G	3: 92,456,907	V210A	possibly damaging	Het
Tcerg1l	G	T	7: 138,397,632	Q8K	unknown	Het
Ubfd1	T	C	7: 122,071,754	V265A	possibly damaging	Het
Ubr1	T	C	2: 120,934,386	D529G	possibly damaging	Het
Vmn1r180	A	T	7: 23,952,873	I154F	probably damaging	Het
Vmn1r237	A	G	17: 21,314,663	H216R	possibly damaging	Het
Zfr	T	G	15: 12,149,659	D388E	probably damaging	Het
Zic5	T	C	14: 122,464,663	I219V	probably benign	Het
Zmat5	A	G	11: 4,728,614	N53D	probably benign	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
R4517:Whrn	UTSW	4	63461280	critical splice donor site	probably null
R4739:Whrn	UTSW	4	63418165	missense	probably damaging	1.00
R5207:Whrn	UTSW	4	63432714	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'- CAGCAGTGCACGAGTCTGATTC -3'
(R):5'- ATCAGCTGGTCAGTGGTGAG -3'

Sequencing Primer
(F):5'- TGCACGAGTCTGATTCCCCAG -3'
(R):5'- GACACCGGTATAATTTGGCAC -3'

Posted On

2015-06-12