Mutagenetix > Incidental Mutation

Incidental Mutation 'R2513:Whrn'

253582

Institutional Source

Beutler Lab

Gene Symbol

Whrn

Ensembl Gene

ENSMUSG00000039137

Gene Name

whirlin

Synonyms

C430046P22Rik, Dfnb31, wi, 1110035G07Rik

MMRRC Submission

040419-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63414910-63495991 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63435412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 373 (T373S)

Ref Sequence

ENSEMBL: ENSMUSP00000103016 (fasta)

Gene Model

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

AlphaFold

Q80VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000063650
AA Change: T373S

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069664
Gene: ENSMUSG00000039137
AA Change: T373S

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 benign
Transcript: ENSMUST00000063672
AA Change: T373S

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065838
Gene: ENSMUSG00000039137
AA Change: T373S

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 benign
Transcript: ENSMUST00000084510
AA Change: T373S

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081557
Gene: ENSMUSG00000039137
AA Change: T373S

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 benign
Transcript: ENSMUST00000102867
AA Change: T373S

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099931
Gene: ENSMUSG00000039137
AA Change: T373S

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 benign
Transcript: ENSMUST00000107393
AA Change: T373S

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103016
Gene: ENSMUSG00000039137
AA Change: T373S

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124016

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145133

Predicted Effect

probably benign
Transcript: ENSMUST00000145630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155058

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,661,852 (GRCm38)	T719A	possibly damaging	Het
9530053A07Rik	C	G	7: 28,131,635 (GRCm38)	S91C	probably damaging	Het
Abcc1	A	G	16: 14,473,009 (GRCm38)		probably null	Het
Aftph	C	T	11: 20,708,676 (GRCm38)		probably null	Het
Als2	C	A	1: 59,215,117 (GRCm38)	K360N	probably benign	Het
Atg2a	T	A	19: 6,258,046 (GRCm38)		probably null	Het
Axl	T	C	7: 25,787,516 (GRCm38)	D22G	probably benign	Het
Baiap2	G	A	11: 119,999,226 (GRCm38)	A438T	probably benign	Het
Bean1	G	C	8: 104,182,011 (GRCm38)	A7P	probably benign	Het
Birc6	C	G	17: 74,647,729 (GRCm38)	P3431R	probably damaging	Het
Camk1d	A	G	2: 5,714,236 (GRCm38)	M1T	probably null	Het
Carmil3	T	C	14: 55,503,838 (GRCm38)	Y1027H	probably damaging	Het
Ccdc6	G	A	10: 70,187,828 (GRCm38)		probably benign	Het
Cemip	C	A	7: 83,942,025 (GRCm38)	V1280L	probably benign	Het
Cfap58	C	A	19: 47,962,542 (GRCm38)	N447K	probably benign	Het
Chd3	A	G	11: 69,360,645 (GRCm38)	L520P	probably damaging	Het
Col1a2	T	A	6: 4,531,223 (GRCm38)		probably null	Het
Cpne7	A	C	8: 123,117,667 (GRCm38)		probably null	Het
Ctla4	T	C	1: 60,912,564 (GRCm38)	V84A	probably damaging	Het
Dap3	A	G	3: 88,928,258 (GRCm38)	V263A	probably benign	Het
Dhx57	T	A	17: 80,241,949 (GRCm38)		probably null	Het
Dlg5	C	A	14: 24,164,525 (GRCm38)	K663N	probably damaging	Het
Dsg3	C	A	18: 20,523,662 (GRCm38)	F196L	possibly damaging	Het
Eif2ak4	C	A	2: 118,426,583 (GRCm38)	D402E	probably damaging	Het
Fam208b	G	T	13: 3,582,150 (GRCm38)	L784I	possibly damaging	Het
Fance	T	C	17: 28,318,094 (GRCm38)	V24A	probably benign	Het
Fasn	A	T	11: 120,814,748 (GRCm38)	L1149Q	probably damaging	Het
Flg	T	A	3: 93,279,786 (GRCm38)	S182T	possibly damaging	Het
Gm128	T	A	3: 95,239,982 (GRCm38)	S334C	possibly damaging	Het
Gm3727	A	C	14: 7,264,561 (GRCm38)	H31Q	probably damaging	Het
Gm4841	T	G	18: 60,270,905 (GRCm38)	T39P	probably damaging	Het
Golgb1	G	T	16: 36,915,151 (GRCm38)	V1587L	possibly damaging	Het
Golm1	G	A	13: 59,642,258 (GRCm38)	P243S	probably benign	Het
Gstcd	C	A	3: 133,082,321 (GRCm38)	K205N	possibly damaging	Het
Gstcd	C	A	3: 133,082,320 (GRCm38)	A206S	possibly damaging	Het
Gtf3c1	A	G	7: 125,681,173 (GRCm38)	V355A	probably benign	Het
Hhatl	T	C	9: 121,789,170 (GRCm38)	D173G	probably benign	Het
Kcnu1	T	A	8: 25,905,966 (GRCm38)	C660S	probably benign	Het
Kctd8	T	C	5: 69,110,645 (GRCm38)	D374G	probably benign	Het
Kif21a	T	C	15: 90,994,391 (GRCm38)	I229V	possibly damaging	Het
L3mbtl1	A	T	2: 162,967,585 (GRCm38)	I702F	probably benign	Het
Lce1d	T	C	3: 92,685,759 (GRCm38)		probably benign	Het
Lrig1	C	T	6: 94,617,366 (GRCm38)		probably null	Het
Lrp12	A	T	15: 39,876,111 (GRCm38)	D563E	probably damaging	Het
Lrp2	C	T	2: 69,506,374 (GRCm38)		probably null	Het
Map3k5	G	A	10: 20,094,455 (GRCm38)	V703I	possibly damaging	Het
Mecr	A	G	4: 131,853,765 (GRCm38)	R110G	probably benign	Het
Mtrr	T	A	13: 68,566,973 (GRCm38)	K445*	probably null	Het
Nanos1	T	A	19: 60,756,552 (GRCm38)	L96Q	probably benign	Het
Olfr538	T	G	7: 140,574,156 (GRCm38)	M1R	probably null	Het
Olfr574	T	A	7: 102,949,493 (GRCm38)	F333I	probably benign	Het
Olfr807	T	A	10: 129,755,152 (GRCm38)	L99F	probably damaging	Het
Otog	T	C	7: 46,305,590 (GRCm38)		probably null	Het
Pcdhb3	T	A	18: 37,301,239 (GRCm38)	L86*	probably null	Het
Pcdhb3	A	T	18: 37,301,240 (GRCm38)	L86F	probably damaging	Het
Pcdhb3	G	T	18: 37,301,241 (GRCm38)	V87F	probably benign	Het
Pdgfd	A	G	9: 6,359,894 (GRCm38)	K322E	probably damaging	Het
Picalm	T	C	7: 90,197,009 (GRCm38)	S648P	probably damaging	Het
Pigr	T	C	1: 130,846,620 (GRCm38)	S446P	possibly damaging	Het
Pik3cb	A	C	9: 99,061,842 (GRCm38)	L636W	probably damaging	Het
Pla2g2f	A	T	4: 138,754,162 (GRCm38)	L92Q	probably damaging	Het
Plod3	G	C	5: 136,988,146 (GRCm38)	A50P	probably benign	Het
Prkar2b	C	T	12: 31,975,929 (GRCm38)	V191I	possibly damaging	Het
Prune1	C	A	3: 95,258,119 (GRCm38)	A281S	probably benign	Het
Ptges3l	A	T	11: 101,424,042 (GRCm38)	C42S	possibly damaging	Het
Reg3b	A	T	6: 78,371,819 (GRCm38)	I33L	probably benign	Het
Rel	A	G	11: 23,745,823 (GRCm38)	I188T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Ripor1	G	T	8: 105,617,622 (GRCm38)	V463L	probably benign	Het
Rrm1	T	A	7: 102,460,689 (GRCm38)	D510E	probably damaging	Het
Setd7	A	G	3: 51,533,015 (GRCm38)	S202P	probably damaging	Het
Shank3	T	A	15: 89,548,686 (GRCm38)	D1211E	probably benign	Het
Slc30a1	A	T	1: 191,907,562 (GRCm38)	T186S	possibly damaging	Het
Slc4a4	G	A	5: 89,156,398 (GRCm38)	V523I	probably benign	Het
Slc9a2	T	A	1: 40,742,608 (GRCm38)		probably null	Het
Smg6	A	G	11: 74,929,676 (GRCm38)	T258A	probably damaging	Het
Sptlc1	C	T	13: 53,337,640 (GRCm38)	D408N	possibly damaging	Het
Tbl3	T	C	17: 24,704,550 (GRCm38)		probably null	Het
Tdo2	T	C	3: 81,969,505 (GRCm38)	D139G	possibly damaging	Het
Ticam1	T	A	17: 56,271,612 (GRCm38)	H161L	possibly damaging	Het
Tnfaip3	T	A	10: 19,005,659 (GRCm38)	D293V	probably benign	Het
Trim72	G	A	7: 128,004,706 (GRCm38)	V75M	possibly damaging	Het
Trip11	T	A	12: 101,837,727 (GRCm38)	N1632I	possibly damaging	Het
Tspan18	A	T	2: 93,220,095 (GRCm38)	M61K	possibly damaging	Het
Tuba8	A	T	6: 121,225,973 (GRCm38)	E415V	probably damaging	Het
Ung	A	G	5: 114,137,192 (GRCm38)	H214R	probably benign	Het
Uqcrc1	T	C	9: 108,936,768 (GRCm38)	L17P	probably damaging	Het
Usp24	A	G	4: 106,379,405 (GRCm38)		probably null	Het
Vps39	A	C	2: 120,338,787 (GRCm38)	Y245D	probably damaging	Het
Zc2hc1a	C	T	3: 7,516,536 (GRCm38)		probably null	Het

Other mutations in Whrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Whrn	APN	4	63,472,778 (GRCm38)	missense	probably damaging	1.00
IGL01643:Whrn	APN	4	63,416,435 (GRCm38)	missense	possibly damaging	0.79
IGL02065:Whrn	APN	4	63,418,585 (GRCm38)	missense	possibly damaging	0.52
IGL02119:Whrn	APN	4	63,435,487 (GRCm38)	missense	probably damaging	0.99
IGL02589:Whrn	APN	4	63,418,097 (GRCm38)	nonsense	probably null
IGL02638:Whrn	APN	4	63,419,472 (GRCm38)	missense	possibly damaging	0.47
IGL02865:Whrn	APN	4	63,415,492 (GRCm38)	missense	probably benign	0.08
IGL02934:Whrn	APN	4	63,416,105 (GRCm38)	missense	probably damaging	1.00
IGL03372:Whrn	APN	4	63,418,618 (GRCm38)	missense	probably damaging	0.96
R0090:Whrn	UTSW	4	63,432,732 (GRCm38)	missense	possibly damaging	0.79
R0592:Whrn	UTSW	4	63,415,567 (GRCm38)	missense	probably damaging	1.00
R0631:Whrn	UTSW	4	63,419,489 (GRCm38)	missense	probably damaging	1.00
R1916:Whrn	UTSW	4	63,494,732 (GRCm38)	missense	probably damaging	1.00
R1933:Whrn	UTSW	4	63,415,639 (GRCm38)	nonsense	probably null
R1958:Whrn	UTSW	4	63,435,429 (GRCm38)	missense	possibly damaging	0.62
R2255:Whrn	UTSW	4	63,418,148 (GRCm38)	missense	possibly damaging	0.92
R3699:Whrn	UTSW	4	63,461,412 (GRCm38)	splice site	probably benign
R3919:Whrn	UTSW	4	63,495,184 (GRCm38)	nonsense	probably null
R4016:Whrn	UTSW	4	63,415,639 (GRCm38)	nonsense	probably null
R4241:Whrn	UTSW	4	63,432,973 (GRCm38)	unclassified	probably benign
R4517:Whrn	UTSW	4	63,461,280 (GRCm38)	critical splice donor site	probably null
R4739:Whrn	UTSW	4	63,418,165 (GRCm38)	missense	probably damaging	1.00
R5207:Whrn	UTSW	4	63,432,714 (GRCm38)	missense	probably damaging	1.00
R5281:Whrn	UTSW	4	63,418,427 (GRCm38)	missense	probably benign	0.04
R5307:Whrn	UTSW	4	63,431,843 (GRCm38)	missense	probably benign	0.01
R5463:Whrn	UTSW	4	63,432,816 (GRCm38)	missense	probably benign	0.08
R5663:Whrn	UTSW	4	63,418,448 (GRCm38)	missense	probably damaging	0.98
R5754:Whrn	UTSW	4	63,416,588 (GRCm38)	missense	probably damaging	0.98
R5933:Whrn	UTSW	4	63,494,708 (GRCm38)	missense	probably damaging	1.00
R6212:Whrn	UTSW	4	63,494,686 (GRCm38)	nonsense	probably null
R6380:Whrn	UTSW	4	63,418,592 (GRCm38)	missense	possibly damaging	0.90
R6381:Whrn	UTSW	4	63,472,684 (GRCm38)	missense	probably benign	0.00
R7030:Whrn	UTSW	4	63,495,131 (GRCm38)	unclassified	probably benign
R7350:Whrn	UTSW	4	63,431,959 (GRCm38)	missense	possibly damaging	0.71
R7382:Whrn	UTSW	4	63,418,336 (GRCm38)	missense	probably benign
R7419:Whrn	UTSW	4	63,416,093 (GRCm38)	missense	possibly damaging	0.94
R8334:Whrn	UTSW	4	63,494,810 (GRCm38)	missense	probably damaging	1.00
R9378:Whrn	UTSW	4	63,431,842 (GRCm38)	missense	probably benign	0.00
X0009:Whrn	UTSW	4	63,431,911 (GRCm38)	missense	probably benign	0.00
Z1176:Whrn	UTSW	4	63,415,566 (GRCm38)	missense	probably damaging	1.00
Z1177:Whrn	UTSW	4	63,418,499 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCAACTTTCCAGAGGACACTG -3'
(R):5'- ATGAGGTCAGCCCATGTGAC -3'

Sequencing Primer
(F):5'- GAAGAGCCCACACTCGTG -3'
(R):5'- TCAGCCCATGTGACAGTGCTG -3'

Posted On

2014-12-04