Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:Myh9'

564162

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77760587-77842175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77765824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 1646 (Q1646P)

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000016771
AA Change: Q1646P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: Q1646P

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: ENSMUST00000229259

Meta Mutation Damage Score

0.8918

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,741,976	I677V	probably benign	Het
4931406B18Rik	A	T	7: 43,498,199	D249E	probably damaging	Het
Acacb	A	C	5: 114,209,751		probably null	Het
Adnp	A	G	2: 168,183,998	V459A	probably damaging	Het
Arid3b	T	C	9: 57,796,754	K304E	probably damaging	Het
Ash1l	G	T	3: 89,070,509	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,414,763	D490E	probably benign	Het
Cacna1g	A	T	11: 94,432,567	C1270*	probably null	Het
Cep295nl	G	T	11: 118,333,040	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,406,061	I377V	unknown	Het
Creb1	C	T	1: 64,576,277	Q223*	probably null	Het
Ctsc	G	A	7: 88,309,559	G349D	probably damaging	Het
Ddx41	G	A	13: 55,533,956	R311*	probably null	Het
Dse	T	A	10: 34,184,148		probably benign	Het
Eef2k	C	T	7: 120,889,265	H458Y	probably benign	Het
Gipr	A	T	7: 19,163,613	V90E	probably damaging	Het
Gm14412	A	T	2: 177,317,396	D22E	probably damaging	Het
Gm17018	A	G	19: 45,577,034	Q149R	probably benign	Het
Gm21886	A	T	18: 80,089,735	C69*	probably null	Het
Gm5114	G	A	7: 39,408,966	L410F	probably benign	Het
Gmip	T	A	8: 69,816,468		probably null	Het
Gtf2f1	T	C	17: 57,007,101	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,332,575	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,698,374	W107R	probably damaging	Het
Iars	T	C	13: 49,723,078		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ifi213	G	T	1: 173,593,963	P120Q	probably damaging	Het
Il6	A	T	5: 30,014,908	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,319,487	S196G	probably benign	Het
Kcnv1	C	T	15: 45,113,208	V228I	probably benign	Het
Lars2	A	G	9: 123,454,963	T739A	possibly damaging	Het
Med13	T	C	11: 86,319,835	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Nif3l1	T	A	1: 58,450,466	S171R	probably benign	Het
Olfr143	T	C	9: 38,253,423	M2T	probably benign	Het
Olfr1467	A	T	19: 13,365,111	D161V	probably benign	Het
Olfr376	A	G	11: 73,375,375	I212V	probably benign	Het
Olfr398	A	G	11: 73,983,777	V277A	probably benign	Het
Olfr564	A	G	7: 102,803,558	T27A	probably benign	Het
Olfr702	A	G	7: 106,823,570	*319Q	probably null	Het
Olfr785	T	C	10: 129,409,780	V138A	probably benign	Het
Pak7	A	T	2: 136,116,764	S135T	possibly damaging	Het
Prr29	A	T	11: 106,374,858	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,594,636	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,695,193	H1310L	probably damaging	Het
Raph1	T	C	1: 60,499,608	S393G	unknown	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ror2	A	G	13: 53,118,720	I303T	possibly damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn10a	C	T	9: 119,618,855	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,993,618	C91S	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tada1	T	A	1: 166,388,648	C139*	probably null	Het
Tbr1	T	A	2: 61,806,042	V254E	probably damaging	Het
Timd4	A	T	11: 46,843,189	I340F	probably benign	Het
Tubb2a	T	C	13: 34,074,532	Y425C	probably damaging	Het
Wdr60	A	G	12: 116,262,585		probably benign	Het
Zfp292	A	T	4: 34,819,476	M287K	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
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
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'- TGCTGACTCCTACTCCTGAG -3'
(R):5'- GTCTAGTAAGGAAGGCACACGC -3'

Sequencing Primer
(F):5'- TACAGCTGCTGCCCTGAG -3'
(R):5'- CAGAGCCACCTGCCTTTG -3'

Posted On

2019-06-26