Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Whrn'

461992

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63333147-63414228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63412945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 176 (S176T)

Ref Sequence

ENSEMBL: ENSMUSP00000103016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063650] [ENSMUST00000063672] [ENSMUST00000084510] [ENSMUST00000095037] [ENSMUST00000095038] [ENSMUST00000102867] [ENSMUST00000107393] [ENSMUST00000133425] [ENSMUST00000119294]

AlphaFold

Q80VW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063650
AA Change: S176T

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

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: S176T

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: S176T

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

SMART Domains

Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: S176T

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: S176T

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

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: S176T

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 damaging
Transcript: ENSMUST00000102867
AA Change: S176T

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

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: S176T

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 damaging
Transcript: ENSMUST00000107393
AA Change: S176T

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

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: S176T

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: ENSMUST00000133425
AA Change: S18T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119280
Gene: ENSMUSG00000039137
AA Change: S18T

Domain	Start	End	E-Value	Type
PDZ	1	65	6.42e-13	SMART
internal_repeat_1	139	164	3.88e-7	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140720

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

Meta Mutation Damage Score

0.6936

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Cyth1	C	T	11: 118,076,585 (GRCm39)		probably null	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Evl	T	C	12: 108,649,516 (GRCm39)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Galnt14	A	T	17: 73,833,300 (GRCm39)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Hk1	A	G	10: 62,105,773 (GRCm39)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,448,951 (GRCm39)	V272I	probably benign	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	Het

Other mutations in Whrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Whrn	APN	4	63,391,015 (GRCm39)	missense	probably damaging	1.00
IGL01643:Whrn	APN	4	63,334,672 (GRCm39)	missense	possibly damaging	0.79
IGL02065:Whrn	APN	4	63,336,822 (GRCm39)	missense	possibly damaging	0.52
IGL02119:Whrn	APN	4	63,353,724 (GRCm39)	missense	probably damaging	0.99
IGL02589:Whrn	APN	4	63,336,334 (GRCm39)	nonsense	probably null
IGL02638:Whrn	APN	4	63,337,709 (GRCm39)	missense	possibly damaging	0.47
IGL02865:Whrn	APN	4	63,333,729 (GRCm39)	missense	probably benign	0.08
IGL02934:Whrn	APN	4	63,334,342 (GRCm39)	missense	probably damaging	1.00
IGL03372:Whrn	APN	4	63,336,855 (GRCm39)	missense	probably damaging	0.96
R0090:Whrn	UTSW	4	63,350,969 (GRCm39)	missense	possibly damaging	0.79
R0592:Whrn	UTSW	4	63,333,804 (GRCm39)	missense	probably damaging	1.00
R0631:Whrn	UTSW	4	63,337,726 (GRCm39)	missense	probably damaging	1.00
R1916:Whrn	UTSW	4	63,412,969 (GRCm39)	missense	probably damaging	1.00
R1933:Whrn	UTSW	4	63,333,876 (GRCm39)	nonsense	probably null
R1958:Whrn	UTSW	4	63,353,666 (GRCm39)	missense	possibly damaging	0.62
R2255:Whrn	UTSW	4	63,336,385 (GRCm39)	missense	possibly damaging	0.92
R2513:Whrn	UTSW	4	63,353,649 (GRCm39)	missense	probably benign	0.22
R3699:Whrn	UTSW	4	63,379,649 (GRCm39)	splice site	probably benign
R3919:Whrn	UTSW	4	63,413,421 (GRCm39)	nonsense	probably null
R4016:Whrn	UTSW	4	63,333,876 (GRCm39)	nonsense	probably null
R4241:Whrn	UTSW	4	63,351,210 (GRCm39)	unclassified	probably benign
R4517:Whrn	UTSW	4	63,379,517 (GRCm39)	critical splice donor site	probably null
R4739:Whrn	UTSW	4	63,336,402 (GRCm39)	missense	probably damaging	1.00
R5207:Whrn	UTSW	4	63,350,951 (GRCm39)	missense	probably damaging	1.00
R5281:Whrn	UTSW	4	63,336,664 (GRCm39)	missense	probably benign	0.04
R5307:Whrn	UTSW	4	63,350,080 (GRCm39)	missense	probably benign	0.01
R5463:Whrn	UTSW	4	63,351,053 (GRCm39)	missense	probably benign	0.08
R5663:Whrn	UTSW	4	63,336,685 (GRCm39)	missense	probably damaging	0.98
R5754:Whrn	UTSW	4	63,334,825 (GRCm39)	missense	probably damaging	0.98
R6212:Whrn	UTSW	4	63,412,923 (GRCm39)	nonsense	probably null
R6380:Whrn	UTSW	4	63,336,829 (GRCm39)	missense	possibly damaging	0.90
R6381:Whrn	UTSW	4	63,390,921 (GRCm39)	missense	probably benign	0.00
R7030:Whrn	UTSW	4	63,413,368 (GRCm39)	unclassified	probably benign
R7350:Whrn	UTSW	4	63,350,196 (GRCm39)	missense	possibly damaging	0.71
R7382:Whrn	UTSW	4	63,336,573 (GRCm39)	missense	probably benign
R7419:Whrn	UTSW	4	63,334,330 (GRCm39)	missense	possibly damaging	0.94
R8334:Whrn	UTSW	4	63,413,047 (GRCm39)	missense	probably damaging	1.00
R9378:Whrn	UTSW	4	63,350,079 (GRCm39)	missense	probably benign	0.00
X0009:Whrn	UTSW	4	63,350,148 (GRCm39)	missense	probably benign	0.00
Z1176:Whrn	UTSW	4	63,333,803 (GRCm39)	missense	probably damaging	1.00
Z1177:Whrn	UTSW	4	63,336,736 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCGATTTGGTATAAAAGATAGCAGC -3'
(R):5'- TGCTCTTCGACCAGTACACG -3'

Sequencing Primer
(F):5'- GATAGCAGCACAGGCAACCG -3'
(R):5'- ACCAGTACACGGCCGAG -3'

Posted On

2017-02-28