Mutagenetix > Incidental Mutation

Incidental Mutation 'R6648:Myh9'

524388

Institutional Source

Beutler Lab

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

MMRRC Submission

044769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77644787-77726375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77650972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1625 (H1625R)

Ref Sequence

ENSEMBL: ENSMUSP00000016771 (fasta)

Gene Model

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

AlphaFold

Q8VDD5

Predicted Effect

probably benign
Transcript: ENSMUST00000016771
AA Change: H1625R

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: H1625R

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

Meta Mutation Damage Score

0.0863

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

98% (42/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,490 (GRCm39)	Y511H	probably damaging	Het
Arhgef38	A	T	3: 132,838,236 (GRCm39)	I600N	probably damaging	Het
Cacna1g	A	T	11: 94,323,395 (GRCm39)	C1270S	probably damaging	Het
Ccar2	T	G	14: 70,376,674 (GRCm39)	D890A	probably benign	Het
Cep76	A	T	18: 67,752,804 (GRCm39)	V548D	probably benign	Het
Chat	T	G	14: 32,176,651 (GRCm39)	Q41P	probably benign	Het
Ddx24	T	A	12: 103,374,634 (GRCm39)	N850I	probably benign	Het
Dst	A	G	1: 34,301,122 (GRCm39)	I5879V	possibly damaging	Het
Ece1	A	G	4: 137,648,470 (GRCm39)	T92A	probably benign	Het
Ecrg4	T	A	1: 43,777,851 (GRCm39)	F87I	probably damaging	Het
Fpgs	G	T	2: 32,574,799 (GRCm39)	C439*	probably null	Het
H2-Q4	A	T	17: 35,601,981 (GRCm39)	E281V	probably damaging	Het
Hydin	A	G	8: 111,252,299 (GRCm39)		probably null	Het
Iqgap2	T	C	13: 95,818,719 (GRCm39)	E679G	probably benign	Het
Kif12	A	T	4: 63,089,554 (GRCm39)		probably null	Het
Kif21b	T	C	1: 136,080,135 (GRCm39)	V557A	probably benign	Het
Mki67	C	G	7: 135,299,169 (GRCm39)	S1955T	probably damaging	Het
Mybpc1	G	A	10: 88,358,861 (GRCm39)	T1110M	probably damaging	Het
Nbeal2	G	A	9: 110,466,710 (GRCm39)	T704M	probably damaging	Het
Or1ad6	G	A	11: 50,860,000 (GRCm39)	D52N	probably damaging	Het
Or5a21	A	T	19: 12,311,130 (GRCm39)	M30K	probably benign	Het
Osbpl9	C	A	4: 108,948,876 (GRCm39)	Q91H	possibly damaging	Het
Pcsk5	A	T	19: 17,553,185 (GRCm39)	L665Q	probably damaging	Het
Pgm5	T	C	19: 24,838,996 (GRCm39)	D53G	probably benign	Het
Plcd4	A	G	1: 74,591,172 (GRCm39)	D189G	probably benign	Het
Plxnb1	A	T	9: 108,933,398 (GRCm39)	Q676L	probably benign	Het
Prss33	A	G	17: 24,053,676 (GRCm39)	S134P	probably benign	Het
Rln1	G	T	19: 29,309,521 (GRCm39)	T86K	probably benign	Het
Rnf213	G	A	11: 119,370,746 (GRCm39)	A4785T	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sh3tc2	T	C	18: 62,148,111 (GRCm39)	C1274R	probably benign	Het
Slc35a5	A	T	16: 44,964,280 (GRCm39)	F318I	probably damaging	Het
Slc41a3	T	C	6: 90,596,490 (GRCm39)	F20L	probably damaging	Het
Socs4	T	A	14: 47,527,633 (GRCm39)	N189K	probably benign	Het
Tiam2	A	T	17: 3,557,148 (GRCm39)	E1196V	probably damaging	Het
Tmc3	T	A	7: 83,246,751 (GRCm39)	V164D	probably damaging	Het
Trim46	T	C	3: 89,142,549 (GRCm39)	E623G	possibly damaging	Het
Ubr4	C	A	4: 139,180,030 (GRCm39)	C3403*	probably null	Het
Vmn1r194	A	T	13: 22,428,694 (GRCm39)	T104S	probably benign	Het
Vmn2r112	A	T	17: 22,837,467 (GRCm39)	I643F	probably damaging	Het
Zfp1002	T	C	2: 150,097,097 (GRCm39)	I111V	probably benign	Het
Zmynd11	T	G	13: 9,763,057 (GRCm39)	S95R	probably benign	Het
Zswim4	C	A	8: 84,957,543 (GRCm39)	R175L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTGAGTTTAAGTGGCCACC -3'
(R):5'- TGAGCCCATCTGAACTCAGC -3'

Sequencing Primer
(F):5'- GAGTTTAAGTGGCCACCATCCC -3'
(R):5'- ATCTGAACTCAGCGCTCG -3'

Posted On

2018-06-22