Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02292:Myh9'

290086

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 #

IGL02292

Quality Score

Status

Chromosome

Chromosomal Location

77644787-77726375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77692196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 121 (I121N)

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000016771
AA Change: I121N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: I121N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134878

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,263,982 (GRCm39)	M51V	probably benign	Het
Abcb5	C	T	12: 118,881,932 (GRCm39)	G599D	probably damaging	Het
Aim2	T	A	1: 173,289,840 (GRCm39)	I261N	probably benign	Het
Alpk3	A	G	7: 80,727,653 (GRCm39)	H261R	possibly damaging	Het
Ankrd12	G	A	17: 66,349,582 (GRCm39)	H84Y	probably damaging	Het
Ankrd17	T	C	5: 90,400,718 (GRCm39)		probably benign	Het
Apc2	C	T	10: 80,138,258 (GRCm39)	P139S	possibly damaging	Het
Cct7	A	G	6: 85,438,091 (GRCm39)	Y111C	probably benign	Het
Cd226	G	A	18: 89,225,216 (GRCm39)	V38I	possibly damaging	Het
Cdh3	A	G	8: 107,271,833 (GRCm39)	Y582C	probably damaging	Het
Csmd1	T	C	8: 16,261,884 (GRCm39)	D871G	probably damaging	Het
Cyp4a31	A	T	4: 115,423,698 (GRCm39)	N133I	probably damaging	Het
Fem1b	T	C	9: 62,703,977 (GRCm39)	I428V	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flrt3	G	A	2: 140,502,045 (GRCm39)	P528S	probably damaging	Het
Gm9476	A	C	10: 100,143,046 (GRCm39)		noncoding transcript	Het
Itgae	T	C	11: 73,009,361 (GRCm39)	I515T	probably damaging	Het
Itih1	T	A	14: 30,655,312 (GRCm39)		probably null	Het
Map3k4	A	G	17: 12,454,045 (GRCm39)	V1419A	possibly damaging	Het
Mfsd6l	A	T	11: 68,448,576 (GRCm39)	I476L	probably benign	Het
Mrpl2	T	C	17: 46,959,157 (GRCm39)		probably benign	Het
Mrpl37	A	G	4: 106,917,729 (GRCm39)	L314P	probably damaging	Het
Msto1	C	A	3: 88,819,131 (GRCm39)	R205S	probably benign	Het
Omt2a	G	A	9: 78,220,621 (GRCm39)	R20C	possibly damaging	Het
Or4c11b	G	A	2: 88,625,631 (GRCm39)	V302I	probably benign	Het
Pdpr	G	A	8: 111,852,312 (GRCm39)	V560I	probably damaging	Het
Rimkla	A	T	4: 119,325,549 (GRCm39)	C287S	probably damaging	Het
Shcbp1l	T	A	1: 153,311,891 (GRCm39)		probably benign	Het
Tm7sf2	T	A	19: 6,113,598 (GRCm39)	K111I	probably damaging	Het
Tnfrsf21	A	G	17: 43,350,802 (GRCm39)	E322G	probably benign	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Zbtb20	T	A	16: 43,431,011 (GRCm39)	Y507*	probably null	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
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
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

2015-04-16