Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Myh9'

644015

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

067725-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8324 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

77760587-77842175 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 77788917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

Predicted Effect

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	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
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
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'- CTGGATAGGAGCGCTAGTCAAC -3'
(R):5'- CTAGCTTCAGTGACTGCGTTTG -3'

Sequencing Primer
(F):5'- TAGGAGCGCTAGTCAACAATTC -3'
(R):5'- TCTGCACAGGCTACATGTG -3'

Posted On

2020-09-02