Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Whrn'

575513

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

1110035G07Rik, wi, Ush2d, Dfnb31, C430046P22Rik

MMRRC Submission

045497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63333147-63414228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63334330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 828 (V828A)

Ref Sequence

ENSEMBL: ENSMUSP00000081557 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063650
AA Change: V817A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: V817A

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: V828A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: V828A

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: V314A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092647
Gene: ENSMUSG00000039137
AA Change: V314A

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: V386A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092648
Gene: ENSMUSG00000039137
AA Change: V386A

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: V816A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: V816A

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: V821A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: V821A

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: V375A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114030
Gene: ENSMUSG00000039137
AA Change: V375A

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: ENSMUST00000145630

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,226,959 (GRCm39)	S572P	probably damaging	Het
Abca13	T	C	11: 9,247,833 (GRCm39)	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,241,173 (GRCm39)	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,365 (GRCm39)	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,018,353 (GRCm39)	T117A	probably benign	Het
Asb15	A	G	6: 24,556,555 (GRCm39)	I17V	probably benign	Het
Atf2	A	G	2: 73,672,777 (GRCm39)	V194A	probably benign	Het
Capn7	T	C	14: 31,071,779 (GRCm39)	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512 (GRCm39)	S28C	probably benign	Het
Cct4	C	T	11: 22,946,420 (GRCm39)	T162I	probably benign	Het
Cdc40	A	T	10: 40,717,439 (GRCm39)	H417Q	probably damaging	Het
Celf1	A	G	2: 90,833,588 (GRCm39)	I115V	probably benign	Het
Ces3a	A	G	8: 105,783,056 (GRCm39)	Y395C	probably damaging	Het
Cfh	C	A	1: 140,033,204 (GRCm39)	C798F	probably damaging	Het
Clstn3	T	C	6: 124,435,088 (GRCm39)	T313A	probably benign	Het
Crmp1	T	A	5: 37,436,229 (GRCm39)	M329K	probably benign	Het
Csf2ra	C	T	19: 61,215,491 (GRCm39)	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,795,727 (GRCm39)	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,014,188 (GRCm39)	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,468,234 (GRCm39)	M268R	probably benign	Het
Dcaf13	T	A	15: 38,993,615 (GRCm39)	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,500,397 (GRCm39)	I56T	probably damaging	Het
Eif2d	T	A	1: 131,098,793 (GRCm39)	S530R	probably benign	Het
Ep300	T	A	15: 81,532,715 (GRCm39)	M1651K	unknown	Het
Epha3	G	A	16: 63,418,657 (GRCm39)	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,329,628 (GRCm39)	C377Y	possibly damaging	Het
Fat4	T	A	3: 39,054,385 (GRCm39)	N4142K	probably damaging	Het
Galnt5	C	A	2: 57,904,937 (GRCm39)	S500Y	probably damaging	Het
Gas6	A	G	8: 13,521,456 (GRCm39)	V431A	probably benign	Het
Gm7544	C	T	1: 82,933,502 (GRCm39)	C56Y	unknown	Het
Golgb1	T	A	16: 36,733,281 (GRCm39)	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,312,025 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,070,050 (GRCm39)	T330A	probably benign	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Ifi205	A	G	1: 173,855,874 (GRCm39)	M52T	possibly damaging	Het
Ino80	A	T	2: 119,210,495 (GRCm39)	D1346E	probably benign	Het
Ino80c	T	C	18: 24,241,836 (GRCm39)	K183R	unknown	Het
Itgal	G	T	7: 126,906,047 (GRCm39)	R379L	probably benign	Het
Itih3	T	A	14: 30,636,730 (GRCm39)	T582S	probably benign	Het
Kcnb2	T	C	1: 15,781,251 (GRCm39)	S708P	possibly damaging	Het
Kcnt1	A	T	2: 25,806,011 (GRCm39)	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,948,537 (GRCm39)	D473N	probably benign	Het
Lama1	T	G	17: 68,024,169 (GRCm39)	I89R		Het
Lama2	A	G	10: 27,142,630 (GRCm39)	I616T	probably benign	Het
Lipm	A	C	19: 34,093,881 (GRCm39)	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,460,106 (GRCm39)	H244L	probably benign	Het
Lrrtm3	T	C	10: 63,923,925 (GRCm39)	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,029,192 (GRCm39)	V231A	unknown	Het
Me3	G	T	7: 89,385,927 (GRCm39)	R92L	probably damaging	Het
Mroh7	T	G	4: 106,541,115 (GRCm39)	I1175L	probably benign	Het
Muc16	A	G	9: 18,553,258 (GRCm39)	M4345T	probably benign	Het
Mug2	A	G	6: 122,017,529 (GRCm39)	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,164,454 (GRCm39)	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,422,063 (GRCm39)	Q24*	probably null	Het
Or12e14	A	T	2: 87,677,406 (GRCm39)	T264S	probably benign	Het
Or1ad6	T	A	11: 50,860,152 (GRCm39)	Y102*	probably null	Het
Or2ag2b	T	C	7: 106,417,551 (GRCm39)	L87P	possibly damaging	Het
Or4f14	G	A	2: 111,742,435 (GRCm39)	P280L	probably damaging	Het
Or4k6	A	C	14: 50,475,448 (GRCm39)	V298G	possibly damaging	Het
Or4x13	A	G	2: 90,231,803 (GRCm39)	D266G	probably damaging	Het
Or6b6	A	G	7: 106,571,353 (GRCm39)	M66T	probably benign	Het
Or7g23	A	C	9: 19,086,642 (GRCm39)	M110R	possibly damaging	Het
Or8g23	T	A	9: 38,971,465 (GRCm39)	I166L	probably benign	Het
Or8k3	C	T	2: 86,058,557 (GRCm39)	G253R	probably damaging	Het
Oser1	A	T	2: 163,253,364 (GRCm39)	D48E	probably benign	Het
Piwil4	G	A	9: 14,613,691 (GRCm39)	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,189,898 (GRCm39)		probably null	Het
Plxna1	A	G	6: 89,334,584 (GRCm39)	L15P	unknown	Het
Ppan	C	T	9: 20,803,140 (GRCm39)	T404I	probably benign	Het
Pros1	C	A	16: 62,748,433 (GRCm39)	Y635*	probably null	Het
Rabep2	G	A	7: 126,043,342 (GRCm39)	R414Q	probably benign	Het
Rbms3	T	A	9: 116,651,894 (GRCm39)	E201V	probably damaging	Het
Robo4	A	C	9: 37,314,105 (GRCm39)	I119L	probably benign	Het
S100b	A	T	10: 76,095,820 (GRCm39)	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,656,101 (GRCm39)	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,193,350 (GRCm39)		probably null	Het
Slc30a6	T	C	17: 74,730,424 (GRCm39)	V438A	probably benign	Het
Sobp	A	G	10: 42,897,804 (GRCm39)	S594P	probably benign	Het
Tcstv1b	A	G	13: 120,634,994 (GRCm39)	E92G	probably damaging	Het
Tmem45b	T	C	9: 31,339,334 (GRCm39)	D213G	probably benign	Het
Topbp1	T	A	9: 103,200,543 (GRCm39)	D525E	probably benign	Het
Trim30c	G	T	7: 104,037,472 (GRCm39)	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023 (GRCm39)	D1617V	unknown	Het
Ush1c	A	G	7: 45,878,679 (GRCm39)	L112P	probably damaging	Het
Vipr1	T	A	9: 121,490,539 (GRCm39)	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,078,354 (GRCm39)	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,307,992 (GRCm39)	Y749N	probably damaging	Het
Vps13d	A	T	4: 144,842,073 (GRCm39)	S2615R		Het
Zbp1	A	G	2: 173,050,958 (GRCm39)	V304A	probably benign	Het
Zeb2	A	T	2: 44,886,359 (GRCm39)	N899K	probably benign	Het
Zfp148	T	C	16: 33,317,511 (GRCm39)	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,902,207 (GRCm39)	I712N	possibly damaging	Het
Zfp683	T	C	4: 133,786,211 (GRCm39)	V446A	probably benign	Het
Zranb3	A	T	1: 127,891,588 (GRCm39)	V796D	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
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
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'- TTGTCATTCAAGAGGGTCCC -3'
(R):5'- TCGTAGAGCCTCACTTTGC -3'

Sequencing Primer
(F):5'- ATTCAAGAGGGTCCCCGTGTC -3'
(R):5'- AGAGCCTCACTTTGCCCTGC -3'

Posted On

2019-10-07