Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Myh9'

371950

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

042455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77760587-77842175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77769253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1348 (E1348G)

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000231192]

AlphaFold

Q8VDD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000016771
AA Change: E1348G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: E1348G

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

noncoding transcript
Transcript: ENSMUST00000139729

Predicted Effect

unknown
Transcript: ENSMUST00000229259
AA Change: E73G

Predicted Effect

probably benign
Transcript: ENSMUST00000231192

Meta Mutation Damage Score

0.6702

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 14,943,739	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,841,732		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,150,722	C1198S	probably damaging	Het
Abcc8	T	C	7: 46,150,828	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,528,861	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,839,762	S339G	probably damaging	Het
C2cd3	A	G	7: 100,416,190	T728A	probably benign	Het
Cand1	C	A	10: 119,213,546		probably null	Het
Catspere1	A	T	1: 177,872,058		noncoding transcript	Het
Cd209c	G	T	8: 3,945,905	R2S	probably benign	Het
Cdc16	A	G	8: 13,781,644		probably benign	Het
Ces1g	C	T	8: 93,333,695	E99K	probably benign	Het
Chrna7	A	C	7: 63,212,448	L10R	probably benign	Het
Clnk	C	T	5: 38,713,069		probably null	Het
Cntrob	C	G	11: 69,315,394	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,408,726	S145P	unknown	Het
Dennd2a	T	C	6: 39,497,110	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,774,625	F298S	probably damaging	Het
Dock5	T	C	14: 67,817,563	D618G	probably damaging	Het
Drc3	G	A	11: 60,370,535	A171T	probably benign	Het
Ecel1	A	T	1: 87,153,301	N322K	probably damaging	Het
Eftud2	A	G	11: 102,854,814	F362L	probably damaging	Het
Egfr	C	T	11: 16,911,607	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,576,908	S102P	probably damaging	Het
Erich3	T	A	3: 154,704,843	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,778,543	L261S	probably damaging	Het
Fam198b	G	A	3: 79,936,605	R377H	probably damaging	Het
Fat3	A	C	9: 15,997,587	V2373G	probably damaging	Het
Gadd45a	A	T	6: 67,036,889	L58Q	probably damaging	Het
Gipr	C	T	7: 19,162,676	R165H	probably damaging	Het
Gje1	C	T	10: 14,717,338	G45R	probably null	Het
Gldc	T	A	19: 30,133,732	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,073,423		noncoding transcript	Het
Gm27013	T	A	6: 130,520,737		noncoding transcript	Het
Gm5436	A	T	12: 84,258,810		noncoding transcript	Het
Gm6588	A	T	5: 112,450,240	K218*	probably null	Het
Grik3	C	A	4: 125,691,176	N612K	probably damaging	Het
Hfm1	C	A	5: 106,892,751	W716L	probably damaging	Het
Hist1h2bl	C	T	13: 21,716,064		probably benign	Het
Il5ra	T	C	6: 106,738,375	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,835,590	E113G	probably benign	Het
Kcnk10	A	T	12: 98,434,916	M486K	probably benign	Het
Kcnv2	A	G	19: 27,323,790	D347G	probably damaging	Het
Kif21b	C	A	1: 136,145,220	H119N	probably damaging	Het
Lamb1	C	T	12: 31,287,433	H388Y	probably damaging	Het
Leng9	T	C	7: 4,149,386	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,287,426	T55I	probably damaging	Het
Lrp1	G	T	10: 127,583,936	R935S	probably damaging	Het
Lrp2	A	T	2: 69,469,411	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,562,511	D503E	probably benign	Het
Map1a	T	A	2: 121,302,086	S890T	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mybph	A	T	1: 134,198,495	E349V	probably damaging	Het
Myh7b	C	A	2: 155,633,989	L1935M	probably benign	Het
Myzap	A	G	9: 71,548,755	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,253,375	L1062P	probably damaging	Het
Nepro	G	A	16: 44,734,797	S412N	probably null	Het
Nr1h3	A	G	2: 91,190,218	F257L	probably benign	Het
Nudt5	T	C	2: 5,864,428	V155A	probably benign	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr522	A	G	7: 140,162,689	L87P	possibly damaging	Het
Olfr539	A	T	7: 140,667,589	I94F	probably damaging	Het
Olfr653	A	T	7: 104,580,215	I190L	probably benign	Het
Pde1a	T	A	2: 80,128,837		probably benign	Het
Pde4dip	T	A	3: 97,793,528	H220L	probably damaging	Het
Pde9a	T	A	17: 31,443,161		probably null	Het
Pnkp	C	A	7: 44,861,646		probably null	Het
Pnpla7	A	G	2: 24,980,052	T15A	probably benign	Het
Polq	G	T	16: 37,048,783		probably null	Het
Ppfia2	C	T	10: 106,854,957	T553I	probably benign	Het
Ptk6	T	G	2: 181,196,991	N323T	possibly damaging	Het
Rhox3c	G	A	X: 37,470,424	A60T	probably damaging	Het
Rnf4	T	A	5: 34,348,709	V61E	probably damaging	Het
Rnf5	A	G	17: 34,602,003		probably benign	Het
Sardh	A	G	2: 27,191,955	V853A	probably benign	Het
Scfd1	T	C	12: 51,389,326	V86A	probably damaging	Het
Scube3	G	A	17: 28,164,123	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,417	H490Y	probably benign	Het
Sfta2	T	C	17: 35,649,881		probably benign	Het
Sh3d19	T	C	3: 86,123,742	Y738H	probably damaging	Het
Shc2	T	C	10: 79,622,461	R463G	probably damaging	Het
Socs7	T	A	11: 97,377,003	I320N	possibly damaging	Het
Speer2	A	T	16: 69,858,100	M159K	probably benign	Het
Sppl2c	A	C	11: 104,187,652	H426P	probably benign	Het
Stag3	T	G	5: 138,309,365		probably null	Het
Stxbp5	C	A	10: 9,762,891	V1055L	probably benign	Het
Synpo	A	T	18: 60,603,612	S421T	probably damaging	Het
Taf6l	A	G	19: 8,782,406	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,855,697	S87N	probably benign	Het
Tomm6	T	C	17: 47,688,069		probably benign	Het
Trabd	T	C	15: 89,082,712	M113T	probably benign	Het
Trim58	G	A	11: 58,651,324	G370E	probably damaging	Het
Ttc41	C	T	10: 86,731,125	R552C	probably benign	Het
Vit	T	C	17: 78,601,879	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,702,936	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,310,362	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,434,380	N545S	probably damaging	Het
Zfp865	A	G	7: 5,031,641	Y875C	probably 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
R4384:Myh9	UTSW	15	77791712	splice site	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
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
R8837:Myh9	UTSW	15	77776937	missense	possibly damaging	0.71
R8944:Myh9	UTSW	15	77771232	missense	probably benign
R9025:Myh9	UTSW	15	77768992	missense	probably benign
R9229:Myh9	UTSW	15	77790817	missense	possibly damaging	0.91
R9396:Myh9	UTSW	15	77763296	missense	probably benign
Z1088:Myh9	UTSW	15	77775258	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAAGTGATGCAAACACCC -3'
(R):5'- ACGCTTCTTGCTTGCAGACAG -3'

Sequencing Primer
(F):5'- GTGATGCAAACACCCACACTGG -3'
(R):5'- TCTTGCTTGCAGACAGACCAC -3'

Posted On

2016-03-01