Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01399:Myh9'

79562

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 #

IGL01399

Quality Score

Status

Chromosome

Chromosomal Location

77644787-77726375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77651470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1544 (L1544Q)

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000016771
AA Change: L1544Q

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

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: L1544Q

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

noncoding transcript
Transcript: ENSMUST00000139729

Predicted Effect

probably benign
Transcript: ENSMUST00000229259

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asic4	T	A	1: 75,445,790 (GRCm39)	N206K	possibly damaging	Het
Bsn	A	G	9: 107,984,386 (GRCm39)	Y3223H	unknown	Het
Btaf1	C	T	19: 36,977,570 (GRCm39)	R1463*	probably null	Het
Ccdc146	A	G	5: 21,499,611 (GRCm39)	I857T	possibly damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Chd5	T	C	4: 152,441,144 (GRCm39)	W195R	probably damaging	Het
Cntn1	A	G	15: 92,203,025 (GRCm39)	Y769C	probably damaging	Het
Cwc22	T	C	2: 77,747,408 (GRCm39)	E435G	probably benign	Het
Dct	A	G	14: 118,273,890 (GRCm39)	F339S	probably damaging	Het
Ddx54	G	T	5: 120,761,968 (GRCm39)	E554*	probably null	Het
Dock3	G	T	9: 106,870,670 (GRCm39)	S581R	probably benign	Het
Dst	A	G	1: 34,156,598 (GRCm39)	H176R	probably benign	Het
Emc8	A	G	8: 121,385,745 (GRCm39)	M123T	probably damaging	Het
Evc	T	A	5: 37,490,357 (GRCm39)	D55V	probably damaging	Het
Gm5424	A	G	10: 61,907,272 (GRCm39)		noncoding transcript	Het
Gpr149	A	T	3: 62,511,852 (GRCm39)	L49Q	probably damaging	Het
Hcfc1	C	T	X: 72,993,515 (GRCm39)	V1217I	possibly damaging	Het
Hoxa4	G	T	6: 52,167,393 (GRCm39)	Q263K	probably damaging	Het
Ift172	T	C	5: 31,423,592 (GRCm39)	E790G	probably benign	Het
Ipp	A	G	4: 116,372,384 (GRCm39)	N138D	probably damaging	Het
Isg20	A	T	7: 78,569,836 (GRCm39)	T158S	possibly damaging	Het
Klf17	A	G	4: 117,616,356 (GRCm39)	F325S	probably damaging	Het
Lilrb4a	T	C	10: 51,370,161 (GRCm39)	L233P	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nexmif	T	A	X: 103,130,786 (GRCm39)	D377V	probably damaging	Het
Nobox	T	C	6: 43,280,972 (GRCm39)	T501A	probably benign	Het
Noc3l	T	C	19: 38,804,099 (GRCm39)	D93G	possibly damaging	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nup205	T	C	6: 35,196,624 (GRCm39)	I1120T	possibly damaging	Het
Or5b96	A	T	19: 12,867,803 (GRCm39)	M46K	probably benign	Het
Or5h18	C	T	16: 58,847,629 (GRCm39)	V214I	probably benign	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Selenof	C	T	3: 144,302,669 (GRCm39)	T148I	probably damaging	Het
Sgce	C	A	6: 4,746,997 (GRCm39)	G31V	probably damaging	Het
Slc35e1	C	A	8: 73,238,534 (GRCm39)	A325S	probably damaging	Het
Slc4a4	A	G	5: 89,376,794 (GRCm39)	D1016G	probably damaging	Het
Synj2	T	G	17: 6,060,046 (GRCm39)	C149W	probably damaging	Het
Tecpr1	A	G	5: 144,145,411 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,594,164 (GRCm39)		probably null	Het
Vmn2r63	T	A	7: 42,553,543 (GRCm39)	K571M	probably damaging	Het
Wdr53	A	G	16: 32,070,718 (GRCm39)	D21G	possibly damaging	Het
Zbtb3	T	C	19: 8,780,819 (GRCm39)	L144S	probably damaging	Het
Zfp185	T	A	X: 72,043,654 (GRCm39)	S154T	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
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
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

2013-11-05