Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Whrn'

20128

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

63333147-63414228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63350969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 9 (R9L)

Ref Sequence

ENSEMBL: ENSMUSP00000114030 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063650
AA Change: R451L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: R451L

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: ENSMUST00000063672
AA Change: R451L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: R451L

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

possibly damaging
Transcript: ENSMUST00000084510
AA Change: R451L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: R451L

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

possibly damaging
Transcript: ENSMUST00000095038
AA Change: R9L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: R9L

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: R451L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: R451L

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: R455L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: R455L

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: R9L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: R9L

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: ENSMUST00000145133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148957

Predicted Effect

probably benign
Transcript: ENSMUST00000145630

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

Meta Mutation Damage Score

0.1861

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4b1	A	G	3: 103,727,745 (GRCm39)	D325G	possibly damaging	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Chaf1b	G	T	16: 93,684,012 (GRCm39)	A88S	possibly damaging	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Ern1	A	G	11: 106,296,649 (GRCm39)	V767A	probably damaging	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itgb8	A	G	12: 119,166,298 (GRCm39)	S78P	probably benign	Het
Itih5	G	A	2: 10,169,495 (GRCm39)	V31I	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,288,664 (GRCm39)	E616G	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		probably benign	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
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
R5933:Whrn	UTSW	4	63,412,945 (GRCm39)	missense	probably damaging	1.00
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'- ACCAGCAGACTTCTTCTACCTGAGC -3'
(R):5'- TGTGTGGAGACCATCAACACAACG -3'

Sequencing Primer
(F):5'- TGATAATAAGCACTGCACTCTGTCC -3'
(R):5'- CGCAGCCTAGACTCCTCTG -3'

Posted On

2013-04-11