Mutagenetix > Incidental Mutation

Incidental Mutation 'R2255:Whrn'

241932

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik

MMRRC Submission

040255-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63333147-63414228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63336385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 295 (V295M)

Ref Sequence

ENSEMBL: ENSMUSP00000092648 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000063650
AA Change: V726M

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

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: V726M

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: V737M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: V737M

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: V223M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: V223M

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: V295M

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: V295M

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
AA Change: V726M

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

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: V726M

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: V730M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: V730M

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: V284M

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: V284M

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: ENSMUST00000155058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145133

Predicted Effect

probably benign
Transcript: ENSMUST00000145630

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	A	17: 46,616,561 (GRCm39)	T1210I	probably benign	Het
Agbl1	T	C	7: 76,071,932 (GRCm39)	F581S	probably damaging	Het
Ambra1	A	T	2: 91,747,806 (GRCm39)	N1061Y	probably damaging	Het
Aoc1l1	G	A	6: 48,952,891 (GRCm39)	R272H	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,361 (GRCm39)	L132S	probably damaging	Het
Atp10b	G	A	11: 43,125,207 (GRCm39)	V1058I	probably damaging	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Bpifa6	T	A	2: 153,832,815 (GRCm39)	I310N	probably damaging	Het
Btnl9	A	T	11: 49,060,143 (GRCm39)	L535*	probably null	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Catip	T	C	1: 74,408,159 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,921,996 (GRCm39)	S1023R	probably damaging	Het
Ces2g	G	A	8: 105,694,046 (GRCm39)	E461K	probably damaging	Het
Chad	C	A	11: 94,456,523 (GRCm39)	H200Q	possibly damaging	Het
Crbn	C	T	6: 106,772,159 (GRCm39)		probably null	Het
Crip3	G	C	17: 46,740,298 (GRCm39)	E33Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,894 (GRCm39)	R105S	probably damaging	Het
Dmxl1	C	T	18: 49,979,706 (GRCm39)	H114Y	probably benign	Het
Dpp3	T	C	19: 4,968,347 (GRCm39)	N242D	probably benign	Het
Dtx3l	T	C	16: 35,756,949 (GRCm39)	N78S	probably benign	Het
Dync2h1	A	G	9: 6,955,905 (GRCm39)		probably null	Het
Esrp1	A	G	4: 11,365,211 (GRCm39)	V260A	probably damaging	Het
Etfdh	A	G	3: 79,511,349 (GRCm39)	V544A	probably benign	Het
Ezhip	T	G	X: 5,994,754 (GRCm39)	E87A	probably benign	Het
Fcgr1	G	T	3: 96,193,233 (GRCm39)	H255N	possibly damaging	Het
Fcrl2	G	T	3: 87,164,655 (GRCm39)	Y290*	probably null	Het
Frem2	A	G	3: 53,559,935 (GRCm39)	V1524A	probably damaging	Het
Gabbr1	T	C	17: 37,382,758 (GRCm39)	I817T	probably damaging	Het
Gapdhs	G	C	7: 30,429,333 (GRCm39)		probably null	Het
Gm57858	A	G	3: 36,074,099 (GRCm39)	V350A	probably benign	Het
Gopc	A	T	10: 52,225,181 (GRCm39)	I356K	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Gpr171	A	G	3: 59,005,628 (GRCm39)	V49A	probably benign	Het
Greb1l	T	A	18: 10,554,857 (GRCm39)	N1634K	probably damaging	Het
Gria1	G	A	11: 57,076,775 (GRCm39)	R57H	probably damaging	Het
Herpud1	A	G	8: 95,121,241 (GRCm39)	E344G	probably benign	Het
Hhip	A	G	8: 80,771,810 (GRCm39)	F167L	probably damaging	Het
Hp1bp3	T	A	4: 137,953,209 (GRCm39)	D84E	probably damaging	Het
Ier3	A	G	17: 36,133,153 (GRCm39)	Y145C	probably damaging	Het
Ifi47	A	T	11: 48,987,474 (GRCm39)	I414L	probably benign	Het
Ifnl2	C	T	7: 28,209,638 (GRCm39)	A50T	possibly damaging	Het
Jade1	A	G	3: 41,546,185 (GRCm39)	Y70C	probably damaging	Het
Kif1b	A	T	4: 149,359,454 (GRCm39)	F94L	probably damaging	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,523 (GRCm39)	L26S	possibly damaging	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nae1	T	A	8: 105,256,700 (GRCm39)	D69V	probably damaging	Het
Nbr1	T	A	11: 101,463,643 (GRCm39)	V625E	possibly damaging	Het
Nek1	T	C	8: 61,542,807 (GRCm39)	L702P	probably damaging	Het
Ntf3	T	C	6: 126,078,689 (GRCm39)	*272W	probably null	Het
Ofcc1	A	C	13: 40,248,181 (GRCm39)	L651R	probably damaging	Het
Olfm3	A	T	3: 114,915,842 (GRCm39)		probably null	Het
Pcdhb19	C	T	18: 37,630,997 (GRCm39)	A264V	probably benign	Het
Pear1	C	A	3: 87,659,493 (GRCm39)	W780C	probably damaging	Het
Pkhd1	T	A	1: 20,635,863 (GRCm39)	H489L	probably benign	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Rbm10	G	A	X: 20,501,978 (GRCm39)	R9H	unknown	Het
Rwdd1	T	C	10: 33,878,466 (GRCm39)	E123G	probably damaging	Het
Slc22a2	G	T	17: 12,818,062 (GRCm39)	V213F	probably damaging	Het
Slc34a1	T	C	13: 24,004,991 (GRCm39)	I412T	probably benign	Het
Smarca2	A	T	19: 26,748,438 (GRCm39)	I98L	probably benign	Het
Spag6l	T	C	16: 16,595,203 (GRCm39)	E394G	probably damaging	Het
Spdef	T	C	17: 27,939,269 (GRCm39)	T26A	probably benign	Het
Stk17b	T	C	1: 53,815,731 (GRCm39)	I23V	probably benign	Het
Sult2a7	A	G	7: 14,225,818 (GRCm39)	I56T	probably damaging	Het
Tango6	T	A	8: 107,415,926 (GRCm39)		probably null	Het
Tex46	T	C	4: 136,337,844 (GRCm39)	L12P	possibly damaging	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc5cl	T	A	17: 48,766,974 (GRCm39)	I116N	possibly damaging	Het
Unc80	A	T	1: 66,657,417 (GRCm39)	I1630F	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Wrn	G	A	8: 33,819,230 (GRCm39)	P241S	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp687	A	T	3: 94,917,748 (GRCm39)	C675S	probably damaging	Het
Zfp954	A	G	7: 7,118,321 (GRCm39)	Y408H	possibly damaging	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
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'- AGGCTAGCAGACCATCAAGC -3'
(R):5'- TTCCTCAGCACAGGACTCTC -3'

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

Posted On

2014-10-16