Mutagenetix > Incidental Mutations

Incidental Mutation 'R4384:Myh9'

326132

Institutional Source

Beutler Lab

Gene Symbol

Myh9

Ensembl Gene

ENSMUSG00000022443

Gene Name

myosin, heavy polypeptide 9, non-muscle

Synonyms

NMHC II-A, D0Jmb2, myosin IIA, Fltn, Myhn1, Myhn-1, E030044M24Rik

MMRRC Submission

042002-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77760587-77842175 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 77791712 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000123101]

Predicted Effect

probably benign
Transcript: ENSMUST00000016771

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	29	69	3.4e-11	PFAM
MYSc	75	777	N/A	SMART
IQ	778	800	1.46e-3	SMART
Pfam:Myosin_tail_1	841	1921	N/A	PFAM
low complexity region	1948	1959	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123101

SMART Domains

Protein: ENSMUSP00000116198
Gene: ENSMUSG00000022443

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	29	71	6.8e-15	PFAM
Pfam:Myosin_head	83	114	5.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129453

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance. Mice homozygous or heterozygous for one of several knock-in alleles exhibit macrothrombocytopenia, nephritis, cataracts and deafness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,568	V27E	possibly damaging	Het
Adam23	T	C	1: 63,566,628	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,930,157	C132*	probably null	Het
Boc	A	T	16: 44,491,182	L726H	probably damaging	Het
Brip1	A	T	11: 86,148,429	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,988	Q654L	probably benign	Het
Calr3	T	A	8: 72,428,164	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,748,460	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 66,019,908	V119A	probably damaging	Het
Ddias	G	A	7: 92,858,223	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,811,450	Y763C	probably damaging	Het
Dscam	T	A	16: 96,709,216	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,919,393		probably benign	Het
E2f8	G	A	7: 48,867,099	T844I	possibly damaging	Het
Eps8	T	A	6: 137,499,592	H603L	probably benign	Het
Esrrg	G	A	1: 188,043,711	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,594,563	R467*	probably null	Het
Gad2	G	A	2: 22,685,410	V509I	probably benign	Het
Gpat4	A	G	8: 23,174,586	I446T	probably benign	Het
Klhl12	T	G	1: 134,487,654	D435E	probably damaging	Het
Luc7l	T	C	17: 26,279,962		probably benign	Het
March2	C	A	17: 33,696,193	M142I	probably benign	Het
Marf1	T	A	16: 14,142,641	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,696,439	D114G	possibly damaging	Het
Med1	G	A	11: 98,152,862		probably benign	Het
Meikin	C	T	11: 54,417,787	Q404*	probably null	Het
Mylip	T	C	13: 45,389,958	M1T	probably null	Het
Ncapg2	T	C	12: 116,439,877		probably null	Het
Nmd3	T	C	3: 69,724,398		probably benign	Het
Nwd2	T	A	5: 63,806,571	L1166H	probably damaging	Het
Olfr341	A	G	2: 36,479,998	L44P	probably damaging	Het
Olfr912	T	C	9: 38,582,053	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,856,902	I71T	probably damaging	Het
Rwdd3	T	C	3: 121,158,757		probably benign	Het
Ryr2	T	C	13: 11,605,233	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,298,257	Q273R	probably benign	Het
Sdha	A	T	13: 74,326,985	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,702,883	L771P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,247,727	E624G	possibly damaging	Het
Tada3	G	T	6: 113,370,379	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,247,933	M130V	probably damaging	Het
Trpc1	C	A	9: 95,732,108	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,640,507	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,917,725	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,428,682	S80P	probably benign	Het
Usp54	A	T	14: 20,550,085		probably null	Het
Vmn2r27	A	G	6: 124,224,156	Y281H	probably benign	Het
Vwf	T	A	6: 125,655,116	I37N	unknown	Het
Zfp329	G	A	7: 12,811,657		probably benign	Het
Zfp616	G	T	11: 74,083,179	L91F	possibly damaging	Het

Other mutations in Myh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Myh9	APN	15	77796995	splice site	probably benign
IGL01105:Myh9	APN	15	77781478	missense	probably benign	0.01
IGL01137:Myh9	APN	15	77769542	missense	probably benign	0.19
IGL01399:Myh9	APN	15	77767270	missense	probably damaging	1.00
IGL01666:Myh9	APN	15	77761931	missense	probably benign	0.31
IGL01832:Myh9	APN	15	77791753	missense	probably benign	0.02
IGL01933:Myh9	APN	15	77781218	missense	probably benign	0.00
IGL02049:Myh9	APN	15	77769870	missense	probably benign	0.01
IGL02237:Myh9	APN	15	77786654	missense	probably benign	0.03
IGL02243:Myh9	APN	15	77767482	missense	probably damaging	1.00
IGL02248:Myh9	APN	15	77786614	missense	probably damaging	0.99
IGL02292:Myh9	APN	15	77807996	missense	probably damaging	1.00
IGL02315:Myh9	APN	15	77769973	missense	probably benign	0.00
IGL02427:Myh9	APN	15	77775804	missense	probably damaging	0.98
IGL02675:Myh9	APN	15	77788930	missense	possibly damaging	0.89
IGL02727:Myh9	APN	15	77791742	missense	probably benign	0.11
IGL02749:Myh9	APN	15	77807986	nonsense	probably null
IGL02887:Myh9	APN	15	77796020	nonsense	probably null
IGL02926:Myh9	APN	15	77787626	missense	probably damaging	1.00
IGL02945:Myh9	APN	15	77762005	missense	probably benign	0.05
IGL03137:Myh9	APN	15	77791089	missense	probably damaging	1.00
R0784:Myh9	UTSW	15	77777009	splice site	probably benign
R1375:Myh9	UTSW	15	77769368	splice site	probably null
R1535:Myh9	UTSW	15	77777813	missense	probably damaging	0.98
R1563:Myh9	UTSW	15	77771857	missense	probably damaging	0.99
R1629:Myh9	UTSW	15	77764401	missense	probably damaging	1.00
R1635:Myh9	UTSW	15	77771167	missense	probably benign	0.06
R1635:Myh9	UTSW	15	77775899	missense	probably benign	0.00
R1693:Myh9	UTSW	15	77812897	missense	probably damaging	1.00
R1791:Myh9	UTSW	15	77773264	unclassified	probably benign
R2010:Myh9	UTSW	15	77771947	missense	probably benign	0.06
R2048:Myh9	UTSW	15	77771132	missense	possibly damaging	0.70
R2078:Myh9	UTSW	15	77763912	missense	probably benign	0.16
R2092:Myh9	UTSW	15	77764350	nonsense	probably null
R2376:Myh9	UTSW	15	77783417	missense	probably benign	0.18
R2922:Myh9	UTSW	15	77813184	missense	probably damaging	1.00
R3709:Myh9	UTSW	15	77773347	missense	possibly damaging	0.84
R3710:Myh9	UTSW	15	77773347	missense	possibly damaging	0.84
R3737:Myh9	UTSW	15	77766812	missense	probably damaging	0.99
R3738:Myh9	UTSW	15	77766812	missense	probably damaging	0.99
R3739:Myh9	UTSW	15	77766812	missense	probably damaging	0.99
R4299:Myh9	UTSW	15	77769964	missense	probably benign
R4514:Myh9	UTSW	15	77764000	missense	probably benign
R4631:Myh9	UTSW	15	77797028	missense	probably damaging	0.99
R4642:Myh9	UTSW	15	77761951	missense	probably benign	0.10
R4695:Myh9	UTSW	15	77768853	missense	probably damaging	0.99
R4709:Myh9	UTSW	15	77787517	missense	probably damaging	1.00
R4766:Myh9	UTSW	15	77807877	missense	probably damaging	0.97
R4826:Myh9	UTSW	15	77788946	nonsense	probably null
R4842:Myh9	UTSW	15	77769253	missense	probably damaging	0.99
R4946:Myh9	UTSW	15	77773340	missense	probably damaging	1.00
R5030:Myh9	UTSW	15	77807798	intron	probably benign
R5055:Myh9	UTSW	15	77764523	missense	probably benign	0.12
R5202:Myh9	UTSW	15	77781110	critical splice donor site	probably null
R5413:Myh9	UTSW	15	77807986	nonsense	probably null
R5435:Myh9	UTSW	15	77769609	missense	probably benign	0.00
R5701:Myh9	UTSW	15	77791764	missense	probably benign	0.00
R5757:Myh9	UTSW	15	77771162	missense	probably benign	0.44
R5793:Myh9	UTSW	15	77768877	missense	probably benign	0.23
R5952:Myh9	UTSW	15	77773332	missense	possibly damaging	0.65
R6248:Myh9	UTSW	15	77785222	nonsense	probably null
R6648:Myh9	UTSW	15	77766772	missense	probably benign	0.08
R7055:Myh9	UTSW	15	77775198	missense	probably damaging	1.00
R7106:Myh9	UTSW	15	77775121	missense	probably benign
R7180:Myh9	UTSW	15	77807910	missense	probably benign	0.00
R7205:Myh9	UTSW	15	77783472	missense	probably benign	0.08
R7254:Myh9	UTSW	15	77765824	missense	probably damaging	1.00
R7284:Myh9	UTSW	15	77787596	missense	probably damaging	1.00
R7417:Myh9	UTSW	15	77763865	nonsense	probably null
R7695:Myh9	UTSW	15	77766736	missense	probably benign	0.31
R7750:Myh9	UTSW	15	77783410	missense	probably benign	0.01
R7854:Myh9	UTSW	15	77791753	missense	probably benign	0.02
R8220:Myh9	UTSW	15	77764547	missense	possibly damaging	0.87
R8324:Myh9	UTSW	15	77788917	critical splice donor site	probably null
Z1088:Myh9	UTSW	15	77775258	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCTGGGTCACATTTCTAG -3'
(R):5'- CGATCAGCCTAGTACCTATGTTGG -3'

Sequencing Primer
(F):5'- TGGGTCACATTTCTAGTCAGC -3'
(R):5'- AGCCTAGTACCTATGTTGGCTCAG -3'

Posted On

2015-07-06