Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Whrn'

515255

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

C430046P22Rik, Dfnb31, wi, 1110035G07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63414910-63495991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63418592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 136 (P136T)

Ref Sequence

ENSEMBL: ENSMUSP00000114030 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063650
AA Change: P578T

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: P578T

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: ENSMUST00000084510
AA Change: P589T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: P589T

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

possibly damaging
Transcript: ENSMUST00000095037
AA Change: P75T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: P75T

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
AA Change: P147T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: P147T

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

possibly damaging
Transcript: ENSMUST00000102867
AA Change: P578T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: P578T

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: P582T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: P582T

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

possibly damaging
Transcript: ENSMUST00000119294
AA Change: P136T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: P136T

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

noncoding transcript
Transcript: ENSMUST00000145133

Predicted Effect

probably benign
Transcript: ENSMUST00000145630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155058

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	G	A	1: 93,160,891		probably null	Het
4930590J08Rik	G	A	6: 91,923,137	G424D	probably damaging	Het
4932438A13Rik	A	G	3: 37,033,307	D4019G	probably benign	Het
Aco1	T	C	4: 40,185,028	V566A	probably benign	Het
Adat1	G	T	8: 111,978,072	T414K	probably benign	Het
Alox12e	A	G	11: 70,321,101	V194A	probably benign	Het
Anpep	A	G	7: 79,841,896	V119A	probably benign	Het
Atat1	C	A	17: 35,908,957		probably null	Het
Atp10a	G	A	7: 58,819,684	W1094*	probably null	Het
Bcl11b	T	C	12: 108,003,101	R15G	probably benign	Het
Btnl1	A	G	17: 34,379,494	E28G	probably benign	Het
Ccnd1	A	G	7: 144,939,569	V42A	probably benign	Het
Cdyl2	T	A	8: 116,583,184	K344N	probably damaging	Het
Cep68	A	G	11: 20,230,498	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,229,974		probably null	Het
Cyp3a25	A	T	5: 145,998,547	D86E	probably damaging	Het
Dclk1	G	T	3: 55,247,194	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,482,045	K143*	probably null	Het
Duox2	A	G	2: 122,281,002	V1405A	probably benign	Het
Filip1	T	C	9: 79,819,624	E571G	probably damaging	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Jph1	T	C	1: 17,091,847	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,509,584	L535S	probably damaging	Het
Lepr	C	A	4: 101,764,954	S361*	probably null	Het
Lfng	T	A	5: 140,614,396		probably null	Het
Lpcat2	G	A	8: 92,886,581	A250T	probably benign	Het
Map3k4	A	T	17: 12,272,067	M159K	possibly damaging	Het
Notch3	A	T	17: 32,144,559	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,669,231	P477L	probably benign	Het
Olfr180	T	A	16: 58,916,264	I126L	probably damaging	Het
Olfr586	A	T	7: 103,121,929	F281Y	probably benign	Het
Olfr820	A	T	10: 130,017,913	H184L	probably benign	Het
Pald1	G	T	10: 61,350,935	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,662,969	D342G	probably damaging	Het
Plcb2	T	C	2: 118,715,468	S579G	probably damaging	Het
Prdm16	A	T	4: 154,341,367	S654T	probably benign	Het
Rab3gap2	C	A	1: 185,235,984	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,224,350	Q23*	probably null	Het
Slc14a2	T	G	18: 78,146,975	T920P	probably benign	Het
Slc17a6	G	A	7: 51,667,463	V411M	probably benign	Het
Stard6	G	A	18: 70,476,388	V33I	probably benign	Het
Syce1	A	T	7: 140,779,065	H178Q	probably damaging	Het
Syne2	T	A	12: 76,104,980	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 156,018,488	E274G	possibly damaging	Het
Trpm1	A	T	7: 64,268,297	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,455	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,893,559	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,411,859	N172K	probably benign	Het
Zfhx4	A	G	3: 5,413,110	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,444,796	S221P	probably 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
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
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'- AGAGTCCTGTGCTGAGGAAG -3'
(R):5'- CTAAGGAATCGAGTGGGTCC -3'

Sequencing Primer
(F):5'- TGTGCTGAGGAAGGTCCC -3'
(R):5'- CTGAGATGCAGGGAACAGTTTTC -3'

Posted On

2018-05-04