Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00796:Myh9'

12160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh9

Ensembl Gene

ENSMUSG00000022443

Gene Name

myosin, heavy polypeptide 9, non-muscle

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00796

Quality Score

Status

Chromosome

Chromosomal Location

77644787-77726375 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 77681195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116198 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh5	A	G	3: 138,156,742 (GRCm39)	T143A	probably benign	Het
Alk	T	A	17: 72,212,137 (GRCm39)	N802I	possibly damaging	Het
Aspn	A	G	13: 49,710,893 (GRCm39)	I179M	probably damaging	Het
Bptf	A	G	11: 106,945,376 (GRCm39)	L2506P	probably damaging	Het
Cacna1f	T	A	X: 7,497,270 (GRCm39)	D1594E	probably damaging	Het
Chd7	T	A	4: 8,847,271 (GRCm39)	N1671K	possibly damaging	Het
Dnah7b	T	C	1: 46,250,497 (GRCm39)	V1706A	probably damaging	Het
Elmo2	A	T	2: 165,133,934 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,291,959 (GRCm39)	S1108P	probably benign	Het
Fam53a	A	T	5: 33,758,171 (GRCm39)	D317E	probably benign	Het
Gria2	T	C	3: 80,618,097 (GRCm39)	N313D	probably benign	Het
Itch	A	T	2: 155,051,002 (GRCm39)	H563L	probably damaging	Het
Kdm1a	G	A	4: 136,281,558 (GRCm39)	A651V	probably damaging	Het
Myb	T	G	10: 21,017,698 (GRCm39)	Q631P	probably benign	Het
Nars2	C	A	7: 96,680,786 (GRCm39)	L319I	probably benign	Het
Nars2	T	A	7: 96,680,787 (GRCm39)	L319Q	probably benign	Het
Pdcl2	G	A	5: 76,467,022 (GRCm39)	T57I	probably damaging	Het
Pde6g	T	A	11: 120,341,390 (GRCm39)	I17L	probably benign	Het
Ppp1r9a	T	A	6: 5,157,014 (GRCm39)	M964K	probably benign	Het
Ssxb2	A	G	X: 8,324,459 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,509,349 (GRCm39)	T8A	probably benign	Het
Zdbf2	T	C	1: 63,346,364 (GRCm39)	M1581T	probably benign	Het

Other mutations in Myh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Myh9	APN	15	77,665,678 (GRCm39)	missense	probably benign	0.01
IGL01137:Myh9	APN	15	77,653,742 (GRCm39)	missense	probably benign	0.19
IGL01399:Myh9	APN	15	77,651,470 (GRCm39)	missense	probably damaging	1.00
IGL01666:Myh9	APN	15	77,646,131 (GRCm39)	missense	probably benign	0.31
IGL01832:Myh9	APN	15	77,675,953 (GRCm39)	missense	probably benign	0.02
IGL01933:Myh9	APN	15	77,665,418 (GRCm39)	missense	probably benign	0.00
IGL02049:Myh9	APN	15	77,654,070 (GRCm39)	missense	probably benign	0.01
IGL02237:Myh9	APN	15	77,670,854 (GRCm39)	missense	probably benign	0.03
IGL02243:Myh9	APN	15	77,651,682 (GRCm39)	missense	probably damaging	1.00
IGL02248:Myh9	APN	15	77,670,814 (GRCm39)	missense	probably damaging	0.99
IGL02292:Myh9	APN	15	77,692,196 (GRCm39)	missense	probably damaging	1.00
IGL02315:Myh9	APN	15	77,654,173 (GRCm39)	missense	probably benign	0.00
IGL02427:Myh9	APN	15	77,660,004 (GRCm39)	missense	probably damaging	0.98
IGL02675:Myh9	APN	15	77,673,130 (GRCm39)	missense	possibly damaging	0.89
IGL02727:Myh9	APN	15	77,675,942 (GRCm39)	missense	probably benign	0.11
IGL02749:Myh9	APN	15	77,692,186 (GRCm39)	nonsense	probably null
IGL02887:Myh9	APN	15	77,680,220 (GRCm39)	nonsense	probably null
IGL02926:Myh9	APN	15	77,671,826 (GRCm39)	missense	probably damaging	1.00
IGL02945:Myh9	APN	15	77,646,205 (GRCm39)	missense	probably benign	0.05
IGL03137:Myh9	APN	15	77,675,289 (GRCm39)	missense	probably damaging	1.00
R0784:Myh9	UTSW	15	77,661,209 (GRCm39)	splice site	probably benign
R1375:Myh9	UTSW	15	77,653,568 (GRCm39)	splice site	probably null
R1535:Myh9	UTSW	15	77,662,013 (GRCm39)	missense	probably damaging	0.98
R1563:Myh9	UTSW	15	77,656,057 (GRCm39)	missense	probably damaging	0.99
R1629:Myh9	UTSW	15	77,648,601 (GRCm39)	missense	probably damaging	1.00
R1635:Myh9	UTSW	15	77,660,099 (GRCm39)	missense	probably benign	0.00
R1635:Myh9	UTSW	15	77,655,367 (GRCm39)	missense	probably benign	0.06
R1693:Myh9	UTSW	15	77,697,097 (GRCm39)	missense	probably damaging	1.00
R1791:Myh9	UTSW	15	77,657,464 (GRCm39)	unclassified	probably benign
R2010:Myh9	UTSW	15	77,656,147 (GRCm39)	missense	probably benign	0.06
R2048:Myh9	UTSW	15	77,655,332 (GRCm39)	missense	possibly damaging	0.70
R2078:Myh9	UTSW	15	77,648,112 (GRCm39)	missense	probably benign	0.16
R2092:Myh9	UTSW	15	77,648,550 (GRCm39)	nonsense	probably null
R2376:Myh9	UTSW	15	77,667,617 (GRCm39)	missense	probably benign	0.18
R2922:Myh9	UTSW	15	77,697,384 (GRCm39)	missense	probably damaging	1.00
R3709:Myh9	UTSW	15	77,657,547 (GRCm39)	missense	possibly damaging	0.84
R3710:Myh9	UTSW	15	77,657,547 (GRCm39)	missense	possibly damaging	0.84
R3737:Myh9	UTSW	15	77,651,012 (GRCm39)	missense	probably damaging	0.99
R3738:Myh9	UTSW	15	77,651,012 (GRCm39)	missense	probably damaging	0.99
R3739:Myh9	UTSW	15	77,651,012 (GRCm39)	missense	probably damaging	0.99
R4299:Myh9	UTSW	15	77,654,164 (GRCm39)	missense	probably benign
R4384:Myh9	UTSW	15	77,675,912 (GRCm39)	splice site	probably benign
R4514:Myh9	UTSW	15	77,648,200 (GRCm39)	missense	probably benign
R4631:Myh9	UTSW	15	77,681,228 (GRCm39)	missense	probably damaging	0.99
R4642:Myh9	UTSW	15	77,646,151 (GRCm39)	missense	probably benign	0.10
R4695:Myh9	UTSW	15	77,653,053 (GRCm39)	missense	probably damaging	0.99
R4709:Myh9	UTSW	15	77,671,717 (GRCm39)	missense	probably damaging	1.00
R4766:Myh9	UTSW	15	77,692,077 (GRCm39)	missense	probably damaging	0.97
R4826:Myh9	UTSW	15	77,673,146 (GRCm39)	nonsense	probably null
R4842:Myh9	UTSW	15	77,653,453 (GRCm39)	missense	probably damaging	0.99
R4946:Myh9	UTSW	15	77,657,540 (GRCm39)	missense	probably damaging	1.00
R5030:Myh9	UTSW	15	77,691,998 (GRCm39)	intron	probably benign
R5055:Myh9	UTSW	15	77,648,723 (GRCm39)	missense	probably benign	0.12
R5202:Myh9	UTSW	15	77,665,310 (GRCm39)	critical splice donor site	probably null
R5413:Myh9	UTSW	15	77,692,186 (GRCm39)	nonsense	probably null
R5435:Myh9	UTSW	15	77,653,809 (GRCm39)	missense	probably benign	0.00
R5701:Myh9	UTSW	15	77,675,964 (GRCm39)	missense	probably benign	0.00
R5757:Myh9	UTSW	15	77,655,362 (GRCm39)	missense	probably benign	0.44
R5793:Myh9	UTSW	15	77,653,077 (GRCm39)	missense	probably benign	0.23
R5952:Myh9	UTSW	15	77,657,532 (GRCm39)	missense	possibly damaging	0.65
R6248:Myh9	UTSW	15	77,669,422 (GRCm39)	nonsense	probably null
R6648:Myh9	UTSW	15	77,650,972 (GRCm39)	missense	probably benign	0.08
R7055:Myh9	UTSW	15	77,659,398 (GRCm39)	missense	probably damaging	1.00
R7106:Myh9	UTSW	15	77,659,321 (GRCm39)	missense	probably benign
R7180:Myh9	UTSW	15	77,692,110 (GRCm39)	missense	probably benign	0.00
R7205:Myh9	UTSW	15	77,667,672 (GRCm39)	missense	probably benign	0.08
R7254:Myh9	UTSW	15	77,650,024 (GRCm39)	missense	probably damaging	1.00
R7284:Myh9	UTSW	15	77,671,796 (GRCm39)	missense	probably damaging	1.00
R7417:Myh9	UTSW	15	77,648,065 (GRCm39)	nonsense	probably null
R7695:Myh9	UTSW	15	77,650,936 (GRCm39)	missense	probably benign	0.31
R7750:Myh9	UTSW	15	77,667,610 (GRCm39)	missense	probably benign	0.01
R7854:Myh9	UTSW	15	77,675,953 (GRCm39)	missense	probably benign	0.02
R8220:Myh9	UTSW	15	77,648,747 (GRCm39)	missense	possibly damaging	0.87
R8324:Myh9	UTSW	15	77,673,117 (GRCm39)	critical splice donor site	probably null
R8837:Myh9	UTSW	15	77,661,137 (GRCm39)	missense	possibly damaging	0.71
R8944:Myh9	UTSW	15	77,655,432 (GRCm39)	missense	probably benign
R9025:Myh9	UTSW	15	77,653,192 (GRCm39)	missense	probably benign
R9229:Myh9	UTSW	15	77,675,017 (GRCm39)	missense	possibly damaging	0.91
R9396:Myh9	UTSW	15	77,647,496 (GRCm39)	missense	probably benign
Z1088:Myh9	UTSW	15	77,659,458 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06