Mutagenetix > Incidental Mutation

Incidental Mutation 'R4739:Whrn'

359498

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

C430046P22Rik, Dfnb31, wi, 1110035G07Rik

MMRRC Submission

042025-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63414910-63495991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63418165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 720 (H720R)

Ref Sequence

ENSEMBL: ENSMUSP00000069664 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063650
AA Change: H720R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: H720R

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

possibly damaging
Transcript: ENSMUST00000084510
AA Change: H731R

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: H731R

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
AA Change: H217R

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: H217R

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: H289R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: H289R

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: H720R

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: H720R

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
AA Change: H724R

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: H724R

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
AA Change: H278R

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: H278R

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

0.1064

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

96% (102/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	T	1: 158,969,334		noncoding transcript	Het
2300002M23Rik	A	G	17: 35,567,506		probably benign	Het
Aadat	T	C	8: 60,540,106	V360A	probably benign	Het
Abcc5	T	A	16: 20,399,626	D283V	probably damaging	Het
Abraxas1	T	A	5: 100,812,020	K155N	probably damaging	Het
Acot3	T	C	12: 84,058,590	I277T	probably benign	Het
Ankrd45	G	A	1: 161,155,390	C157Y	probably damaging	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Arhgef11	G	A	3: 87,697,999	V214M	possibly damaging	Het
Ash1l	A	C	3: 88,982,845	N677T	probably benign	Het
Atg13	A	G	2: 91,684,695	S254P	probably damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Avl9	T	A	6: 56,726,309	V120D	probably damaging	Het
Cc2d1b	T	C	4: 108,628,042	V527A	probably benign	Het
Ccnl1	A	G	3: 65,946,671		probably benign	Het
Cenpl	T	A	1: 161,083,267	D261E	probably damaging	Het
Cep192	T	G	18: 67,851,732	I1604M	probably benign	Het
Cep95	A	G	11: 106,815,734	I573V	probably benign	Het
Cfap100	A	G	6: 90,412,843		probably null	Het
Cmc1	T	A	9: 118,075,177	M49L	probably benign	Het
Cyfip2	G	T	11: 46,279,993	N176K	probably damaging	Het
Cyp2w1	T	C	5: 139,356,675	F408L	probably damaging	Het
D630045J12Rik	G	A	6: 38,196,036	S399F	possibly damaging	Het
Dcbld2	T	A	16: 58,460,976	L528Q	probably damaging	Het
Dip2b	T	C	15: 100,207,777	V1138A	probably damaging	Het
Dip2c	T	A	13: 9,533,339	L119Q	probably damaging	Het
Dnah3	T	C	7: 120,077,946	D444G	possibly damaging	Het
Dsg1c	A	T	18: 20,275,189	N432Y	possibly damaging	Het
Dst	T	A	1: 34,191,147	I2785N	probably benign	Het
Dynap	A	T	18: 70,241,225	Y77N	possibly damaging	Het
Eif4g3	T	C	4: 138,183,199	L1330P	possibly damaging	Het
Eif4g3	T	A	4: 138,198,097	S1584T	probably benign	Het
Enpp1	A	T	10: 24,679,248	C67S	probably null	Het
Enpp5	C	T	17: 44,081,136	T152I	probably damaging	Het
Erbb4	T	C	1: 68,343,900	M313V	probably damaging	Het
Erc2	T	G	14: 27,776,881	L238R	probably damaging	Het
Eya3	T	A	4: 132,721,387		probably benign	Het
Farp1	T	C	14: 121,238,787	F339L	probably damaging	Het
Fsip2	A	C	2: 82,975,353	D672A	possibly damaging	Het
Gap43	G	T	16: 42,292,218	P60Q	probably benign	Het
Gatsl3	A	G	11: 4,219,004	E57G	possibly damaging	Het
Gpr37l1	T	A	1: 135,167,045	I154F	probably damaging	Het
Greb1	A	G	12: 16,696,328	S1314P	probably damaging	Het
Hectd4	A	T	5: 121,348,442	M3167L	probably benign	Het
Hps3	C	T	3: 20,030,410		probably null	Het
Hps5	A	G	7: 46,786,589	C178R	probably benign	Het
Hspg2	T	A	4: 137,570,073		probably benign	Het
Impdh2-ps	A	G	8: 100,031,207		noncoding transcript	Het
Josd2	T	A	7: 44,471,254	N138K	probably damaging	Het
Mtmr6	T	G	14: 60,292,097	M315R	probably damaging	Het
Mtrf1	G	A	14: 79,413,080	V323M	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Myo18a	T	C	11: 77,823,323	Y748H	probably damaging	Het
Narfl	A	T	17: 25,781,309	H322L	probably damaging	Het
Nek1	A	T	8: 61,098,511	N853I	probably benign	Het
Npnt	T	G	3: 132,904,691	T272P	possibly damaging	Het
Olfr11	T	A	13: 21,639,170	M118L	possibly damaging	Het
Olfr1390	G	A	11: 49,341,321	G263D	probably benign	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Olfr668	G	A	7: 104,924,810	T318I	possibly damaging	Het
Olfr694	C	A	7: 106,689,144	E196*	probably null	Het
Olfr76	A	G	19: 12,119,870	Y269H	possibly damaging	Het
Pappa2	T	G	1: 158,957,002	D146A	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pcsk9	C	T	4: 106,447,156	G496R	probably damaging	Het
Pes1	A	G	11: 3,964,058	K8E	probably damaging	Het
Phlpp2	G	A	8: 109,940,420	G1194S	probably damaging	Het
Pkn1	A	C	8: 83,671,749	V763G	probably damaging	Het
Pkp2	C	A	16: 16,230,724	A331E	probably damaging	Het
Plb1	T	A	5: 32,349,679		probably null	Het
Plxna1	A	T	6: 89,332,675		probably null	Het
Polq	C	T	16: 37,041,747	T264M	probably damaging	Het
Prkag3	T	C	1: 74,740,705	*490W	probably null	Het
Prl2c1	T	C	13: 27,857,678	C228R	probably damaging	Het
Pus7l	T	C	15: 94,540,710	S85G	probably benign	Het
Rfc3	A	C	5: 151,644,776		probably benign	Het
Riox2	A	G	16: 59,489,369	N362S	probably benign	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Scaper	A	T	9: 55,743,648	D904E	probably damaging	Het
Scn11a	T	C	9: 119,754,561	M1663V	probably benign	Het
Slc13a3	A	T	2: 165,430,289	I278N	possibly damaging	Het
Slc22a7	T	C	17: 46,434,997	E278G	probably damaging	Het
Snrnp48	T	A	13: 38,209,917	M66K	probably damaging	Het
Styk1	T	G	6: 131,300,466	E404A	probably damaging	Het
Synj1	T	A	16: 90,955,419	H1016L	probably benign	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tjp2	T	C	19: 24,120,111		probably null	Het
Tmem87a	A	G	2: 120,360,037		probably null	Het
Trappc9	T	G	15: 72,937,060	Y718S	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ugt2a3	C	T	5: 87,327,195	G397R	probably damaging	Het
Wdr33	T	A	18: 31,886,086	M454K	probably benign	Het
Wdtc1	G	T	4: 133,301,799	N325K	possibly damaging	Het
Xirp2	A	T	2: 67,519,265	D3268V	probably damaging	Het
Zc3h7a	A	T	16: 11,141,709	H793Q	probably damaging	Het
Zfp518b	C	T	5: 38,674,498	A55T	possibly damaging	Het
Zmynd8	G	A	2: 165,805,329	T901M	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
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'- AGGCTAGCAGACCATCAAGC -3'
(R):5'- TTCCTCAGCACAGGACTCTC -3'

Sequencing Primer
(F):5'- TAGCAGACCATCAAGCAGCAC -3'
(R):5'- AGTTCCAGAAAGCCGCTG -3'

Posted On

2015-11-11