Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Whrn'

709766

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

C430046P22Rik, Dfnb31, wi, 1110035G07Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63414910-63495991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63431842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 546 (H546R)

Ref Sequence

ENSEMBL: ENSMUSP00000065838 (fasta)

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
AA Change: H546R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: H546R

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

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

probably benign
Transcript: ENSMUST00000145630

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2210408I21Rik	A	G	13: 77,323,616	K1047E	possibly damaging	Het
Abca14	A	T	7: 120,207,968	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,439,082	M978K	probably benign	Het
Adamts3	A	T	5: 89,700,410	C684*	probably null	Het
Adnp2	T	C	18: 80,129,422	T591A	probably benign	Het
Aff4	A	T	11: 53,372,479	T109S	probably damaging	Het
Agmo	A	G	12: 37,243,721	I48V	probably benign	Het
Appl1	G	A	14: 26,927,827	R581*	probably null	Het
Armc9	A	T	1: 86,262,044	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377	T41S	probably benign	Het
Bin1	A	T	18: 32,419,868	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,433,702	D159G	probably benign	Het
Bsn	G	A	9: 108,107,655	P295S	possibly damaging	Het
C130079G13Rik	A	G	3: 59,931,689	T11A	possibly damaging	Het
Cbx6	A	G	15: 79,828,405	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,056,097	K108R	probably benign	Het
Ces1d	T	A	8: 93,186,096	N238I	probably damaging	Het
Col7a1	C	T	9: 108,958,640	Q663*	probably null	Het
Cpsf3	T	C	12: 21,308,038	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,840,454	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,761,601	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,096,673	W301R	probably damaging	Het
Dnah6	T	A	6: 73,212,530	N45I	probably benign	Het
Dnah7a	A	T	1: 53,582,617	H1116Q	probably benign	Het
Dntt	A	G	19: 41,038,917	N141S	probably benign	Het
Fbxl13	T	C	5: 21,585,203	N281D	probably damaging	Het
Frem2	A	T	3: 53,651,989	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,461,674	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,157,129	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,061,862	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,570,754	E187G	probably damaging	Het
Ighm	T	A	12: 113,422,590	T47S		Het
Itgb7	A	C	15: 102,227,396		probably null	Het
Kif16b	A	T	2: 142,619,818	C1293*	probably null	Het
Klf11	C	T	12: 24,655,044	R166C	probably benign	Het
Lca5l	T	A	16: 96,176,012	Q198L	probably damaging	Het
Lnx2	A	T	5: 147,024,370	M584K	probably benign	Het
Lpp	A	T	16: 24,721,987	M1L	probably benign	Het
Lrig3	A	G	10: 125,997,084	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Megf8	A	T	7: 25,340,415		probably null	Het
Myh1	A	C	11: 67,202,433	T117P	probably damaging	Het
Neb	C	A	2: 52,244,101	R3290L	possibly damaging	Het
Neb	A	C	2: 52,247,292	V220G		Het
Nktr	A	T	9: 121,748,198	K444I	probably damaging	Het
Nol11	A	T	11: 107,173,679	M483K	probably benign	Het
Npy1r	C	A	8: 66,704,209	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940	T37A	probably benign	Het
Olfr1137	C	A	2: 87,711,079	V276F	possibly damaging	Het
Olfr1224-ps1	T	C	2: 89,157,055	N40S	probably damaging	Het
Olfr131	G	A	17: 38,082,165	A271V	possibly damaging	Het
Olfr160	A	G	9: 37,712,177	I34T	probably damaging	Het
Olfr286	A	G	15: 98,227,039	L204P	possibly damaging	Het
Olfr624	A	T	7: 103,670,182	M283K	probably damaging	Het
Olfr884	G	A	9: 38,047,479	V86M	possibly damaging	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Pcdha3	A	G	18: 36,947,231	D342G	probably damaging	Het
Pclo	G	A	5: 14,765,863	V1266I		Het
Pcnx4	T	C	12: 72,555,890	Y309H	probably damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,150,811	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,704,128	A225V	probably benign	Het
Plat	A	G	8: 22,775,583	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627	C274*	probably null	Het
Poglut1	A	G	16: 38,526,771	F345L	possibly damaging	Het
Ppara	A	T	15: 85,777,636	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,420,288	W79R	probably damaging	Het
Prdm1	C	T	10: 44,440,154	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,342,362		probably benign	Het
Slc31a1	T	A	4: 62,388,606	M133K	probably damaging	Het
Smg1	G	A	7: 118,178,775	Q1309*	probably null	Het
Sos1	T	C	17: 80,453,810	I152M	probably damaging	Het
Stk4	A	T	2: 164,110,216		probably benign	Het
Syne1	T	G	10: 5,250,954	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,208,840	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475	M548K	probably benign	Het
Twf1	G	A	15: 94,585,455	T124I	probably damaging	Het
Tyro3	G	A	2: 119,812,167	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282	I1370K	unknown	Het
Usp40	A	G	1: 87,957,310	W939R	probably damaging	Het
Vamp8	A	T	6: 72,385,571	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,427,866	H201R	possibly damaging	Het
Yeats2	T	C	16: 20,214,478	V1036A	probably benign	Het
Zfp352	T	G	4: 90,224,338	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 53,774,554		probably benign	Het
Zfp462	T	A	4: 55,011,510	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 11,066,265	H232Q	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
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
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
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

Posted On

2022-04-18