Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01105:Myh9'

52803

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 #

IGL01105

Quality Score

Status

Chromosome

Chromosomal Location

77644787-77726375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77665678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 627 (M627I)

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

Predicted Effect

probably benign
Transcript: ENSMUST00000016771
AA Change: M627I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: M627I

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: ENSMUST00000231192

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,862,885 (GRCm39)	V302E	probably damaging	Het
Ahcy	T	C	2: 154,909,281 (GRCm39)	D86G	probably benign	Het
Antxr2	G	T	5: 98,152,802 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,321,699 (GRCm39)		probably benign	Het
Cdhr4	C	T	9: 107,873,060 (GRCm39)		probably benign	Het
Cdkn2c	C	T	4: 109,518,823 (GRCm39)	V44I	probably damaging	Het
Chodl	T	C	16: 78,738,151 (GRCm39)	Y40H	probably damaging	Het
Heatr3	A	G	8: 88,888,521 (GRCm39)	D391G	probably benign	Het
Hephl1	T	C	9: 15,000,320 (GRCm39)	T311A	possibly damaging	Het
Itpr1	G	A	6: 108,358,294 (GRCm39)	S620N	probably benign	Het
Kank1	T	A	19: 25,401,680 (GRCm39)	S1096T	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Krtap9-5	A	G	11: 99,839,459 (GRCm39)	I53M	unknown	Het
Limk2	G	A	11: 3,305,475 (GRCm39)		probably benign	Het
Lrig2	G	A	3: 104,371,484 (GRCm39)	R382*	probably null	Het
Mamdc2	T	A	19: 23,308,366 (GRCm39)	D512V	probably benign	Het
Marchf1	A	T	8: 66,871,529 (GRCm39)	T353S	possibly damaging	Het
Mrc2	A	G	11: 105,219,567 (GRCm39)	D312G	probably damaging	Het
Nipa2	A	T	7: 55,583,193 (GRCm39)	I184N	probably damaging	Het
Npy1r	A	G	8: 67,157,428 (GRCm39)	K246R	probably benign	Het
Pank4	C	T	4: 155,056,922 (GRCm39)		probably benign	Het
Pcdh12	T	A	18: 38,408,400 (GRCm39)	E1035D	probably damaging	Het
Pias2	T	A	18: 77,220,852 (GRCm39)	D362E	probably damaging	Het
Pkd1l3	G	T	8: 110,388,873 (GRCm39)	V1872L	possibly damaging	Het
Postn	T	G	3: 54,270,131 (GRCm39)	I70S	probably damaging	Het
Ppef2	A	G	5: 92,397,055 (GRCm39)	S107P	possibly damaging	Het
Prl3c1	T	C	13: 27,386,408 (GRCm39)	V131A	probably benign	Het
Qsox2	A	G	2: 26,099,697 (GRCm39)	V609A	probably benign	Het
Rhebl1	C	A	15: 98,776,379 (GRCm39)	E139D	probably benign	Het
Ryr3	A	G	2: 112,582,150 (GRCm39)	S2848P	probably damaging	Het
Scd2	T	A	19: 44,286,497 (GRCm39)	I109N	probably benign	Het
Sim1	A	G	10: 50,857,630 (GRCm39)	H460R	probably damaging	Het
Slc35f3	C	A	8: 127,025,553 (GRCm39)	P10Q	probably damaging	Het
Slf1	T	C	13: 77,249,031 (GRCm39)		probably benign	Het
Stk10	G	T	11: 32,527,740 (GRCm39)	V163L	probably benign	Het
Tssk6	A	G	8: 70,355,462 (GRCm39)	T169A	probably benign	Het
Usp28	T	A	9: 48,921,550 (GRCm39)	V256E	probably damaging	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het

Other mutations in Myh9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Myh9	APN	15	77,681,195 (GRCm39)	splice site	probably benign
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

2013-06-21