Mutagenetix > Incidental Mutation

Incidental Mutation 'R1933:Whrn'

215542

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik

MMRRC Submission

039951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63333147-63414228 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 63333876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 415 (Q415*)

Ref Sequence

ENSEMBL: ENSMUSP00000114030 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

probably null
Transcript: ENSMUST00000063650
AA Change: Q857*

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: Q857*

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 null
Transcript: ENSMUST00000084510
AA Change: Q868*

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: Q868*

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 null
Transcript: ENSMUST00000095037
AA Change: Q354*

SMART Domains

Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: Q354*

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 null
Transcript: ENSMUST00000095038
AA Change: Q426*

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: Q426*

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 null
Transcript: ENSMUST00000102867
AA Change: Q856*

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: Q856*

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 null
Transcript: ENSMUST00000107393
AA Change: Q861*

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: Q861*

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 null
Transcript: ENSMUST00000119294
AA Change: Q415*

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: Q415*

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

noncoding transcript
Transcript: ENSMUST00000155058

Predicted Effect

probably benign
Transcript: ENSMUST00000145630

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adra2a	T	A	19: 54,034,837 (GRCm39)	F64L	probably damaging	Het
Ankrd45	A	T	1: 160,978,870 (GRCm39)	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bsn	A	G	9: 107,993,643 (GRCm39)	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,950,357 (GRCm39)	I529K	probably damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Ccdc78	T	A	17: 26,006,044 (GRCm39)	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,154 (GRCm39)	Q516K	probably benign	Het
Cd300c2	A	T	11: 114,891,685 (GRCm39)	V63E	probably benign	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,506,403 (GRCm39)	F710L	probably damaging	Het
Clpb	T	G	7: 101,428,418 (GRCm39)	F393V	probably damaging	Het
Commd9	G	A	2: 101,731,376 (GRCm39)	R187H	probably damaging	Het
Crx	T	A	7: 15,602,301 (GRCm39)	K126*	probably null	Het
Dcaf13	T	A	15: 39,001,483 (GRCm39)	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,455,650 (GRCm39)	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,345,683 (GRCm39)	D456E	probably damaging	Het
Dscam	A	G	16: 96,394,414 (GRCm39)	S1963P	probably benign	Het
Efl1	C	T	7: 82,412,325 (GRCm39)	Q905*	probably null	Het
Farsa	T	C	8: 85,587,780 (GRCm39)	F104L	probably benign	Het
Fbxl19	C	A	7: 127,350,101 (GRCm39)	A231E	probably benign	Het
Fbxw19	A	T	9: 109,310,718 (GRCm39)	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,339,519 (GRCm39)	N604S	probably benign	Het
Gad1	T	G	2: 70,417,736 (GRCm39)	C312G	possibly damaging	Het
Garem2	G	T	5: 30,319,860 (GRCm39)	E441*	probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475 (GRCm38)	M8K	probably benign	Het
Gpr162	G	A	6: 124,838,410 (GRCm39)	S80F	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Il21	C	T	3: 37,286,635 (GRCm39)	R27H	probably benign	Het
Il21r	C	T	7: 125,228,153 (GRCm39)	T208I	possibly damaging	Het
Kcnab2	T	C	4: 152,520,323 (GRCm39)	T6A	possibly damaging	Het
Klra4	T	A	6: 130,042,207 (GRCm39)	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Lrrtm3	A	G	10: 63,924,292 (GRCm39)	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,440,011 (GRCm39)	K490*	probably null	Het
Myh14	C	T	7: 44,264,772 (GRCm39)	M1671I	probably benign	Het
Nebl	A	T	2: 17,380,103 (GRCm39)	M757K	probably damaging	Het
Or51m1	G	T	7: 103,578,337 (GRCm39)	M102I	probably damaging	Het
Or56b1b	A	C	7: 108,164,730 (GRCm39)	F91V	possibly damaging	Het
Or5aq1	T	A	2: 86,966,188 (GRCm39)	H159L	probably damaging	Het
Pkhd1l1	A	T	15: 44,404,280 (GRCm39)	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,826,587 (GRCm39)	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prss53	T	C	7: 127,485,434 (GRCm39)	*553W	probably null	Het
Psma3	T	A	12: 71,031,468 (GRCm39)	M43K	probably benign	Het
Rad50	G	T	11: 53,570,888 (GRCm39)	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Scn10a	T	A	9: 119,439,064 (GRCm39)	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,803,851 (GRCm39)	E8G	probably damaging	Het
Sgcg	C	T	14: 61,469,861 (GRCm39)	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262 (GRCm39)	V367M	probably damaging	Het
Spata31	T	C	13: 65,068,424 (GRCm39)	S191P	probably benign	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Srgap1	G	T	10: 121,761,808 (GRCm39)	D113E	possibly damaging	Het
Srl	A	G	16: 4,310,214 (GRCm39)	I505T	probably damaging	Het
St14	G	A	9: 31,017,508 (GRCm39)	T226I	probably benign	Het
Stard9	T	A	2: 120,529,137 (GRCm39)	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695 (GRCm39)	N455K	possibly damaging	Het
Sytl3	T	A	17: 7,000,445 (GRCm39)	V205E	probably damaging	Het
Tenm4	A	G	7: 96,544,533 (GRCm39)	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tlcd3b	T	A	7: 126,426,844 (GRCm39)		probably null	Het
Tlr1	T	G	5: 65,082,781 (GRCm39)	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,546 (GRCm39)	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,150,957 (GRCm39)	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,824,657 (GRCm39)	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,284,405 (GRCm39)	S42T	probably benign	Het
Vps4a	T	C	8: 107,771,190 (GRCm39)	V392A	probably benign	Het
Wdfy4	T	C	14: 32,855,301 (GRCm39)	E771G	probably benign	Het
Wnt5a	C	T	14: 28,233,802 (GRCm39)	P10L	probably benign	Het
Zfhx2	T	C	14: 55,312,695 (GRCm39)		probably benign	Het
Zfp451	T	C	1: 33,816,903 (GRCm39)	K132R	probably 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
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'- GCTGATAGCCCTGAACTTGG -3'
(R):5'- TTGAATGACAAGCCCCTTGAC -3'

Sequencing Primer
(F):5'- TGAACTTGGCCCCACCC -3'
(R):5'- GCAGGCTAACACGAACGGTTTC -3'

Posted On

2014-07-14