Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Myh10'

215998

Institutional Source

Beutler Lab

Gene Symbol

Myh10

Ensembl Gene

ENSMUSG00000020900

Gene Name

myosin, heavy polypeptide 10, non-muscle

Synonyms

Myosin IIB, Fltn, Fltn, Myhn-2, myosin IIB, nonmuscle myosin heavy chain II-B, NMHC-B, Myhn2, SMemb, NMHC II-B, 5730504C04Rik, nonmuscle myosin heavy chain IIB, 9330167F11Rik

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0517 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

68691559-68816632 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 68811599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]

AlphaFold

Q61879

Predicted Effect

probably null
Transcript: ENSMUST00000018887

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	33	75	1.5e-15	PFAM
MYSc	79	815	N/A	SMART
IQ	816	838	4.81e-4	SMART
low complexity region	932	946	N/A	INTRINSIC
low complexity region	984	994	N/A	INTRINSIC
low complexity region	1046	1058	N/A	INTRINSIC
low complexity region	1070	1086	N/A	INTRINSIC
Pfam:Myosin_tail_1	1104	1961	6.5e-211	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000092984

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	70	110	2.5e-13	PFAM
MYSc	116	821	N/A	SMART
IQ	822	844	4.81e-4	SMART
Pfam:Myosin_tail_1	885	1965	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102611

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	33	75	1.4e-15	PFAM
MYSc	79	784	N/A	SMART
IQ	785	807	4.81e-4	SMART
low complexity region	901	915	N/A	INTRINSIC
low complexity region	953	963	N/A	INTRINSIC
low complexity region	1015	1027	N/A	INTRINSIC
low complexity region	1039	1055	N/A	INTRINSIC
Pfam:Myosin_tail_1	1073	1930	6.2e-211	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139059

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Nullizygous mice show pre- and neonatal death, heart defects and hydrocephaly. Deletion of exon B1 disrupts migration of facial neurons, whereas deletion of exon B2 leads to Purkinje cell anomalies. Hypomorphs show hydrocephaly and defects in motor control, cerebellar foliation and neuron migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 36,981,132		probably benign	Het
Acer1	T	C	17: 56,955,569	T194A	probably benign	Het
Adamts1	C	A	16: 85,800,353	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,199,858	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,491,297	S373T	probably damaging	Het
Armc4	A	C	18: 7,223,621	L474R	probably damaging	Het
Asic5	A	T	3: 82,009,526	I266F	probably benign	Het
Cacna1d	A	T	14: 30,179,275	I274K	probably damaging	Het
Camsap2	G	T	1: 136,293,388	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cerk	G	A	15: 86,156,648	T170I	probably damaging	Het
Cyp27b1	T	C	10: 127,050,116		probably null	Het
Cyp2c65	T	C	19: 39,082,348		probably benign	Het
Dennd5a	A	G	7: 109,934,761	S75P	probably damaging	Het
Dhx9	C	T	1: 153,478,916	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,778,066	D171G	probably damaging	Het
Dsg3	A	G	18: 20,529,025	N449S	probably benign	Het
Eps8l3	T	C	3: 107,883,460	S189P	probably benign	Het
Exph5	A	G	9: 53,372,762	E381G	probably benign	Het
Fam208b	T	A	13: 3,566,964	T2367S	possibly damaging	Het
Fbxo46	A	G	7: 19,136,874	M473V	possibly damaging	Het
Fgf14	G	A	14: 123,983,784	P203S	probably damaging	Het
Foxf2	C	T	13: 31,626,243	A55V	unknown	Het
Galnt5	T	G	2: 58,035,373		probably benign	Het
Glis2	T	C	16: 4,611,552	L181P	probably damaging	Het
Gm1000	T	G	12: 104,476,408		probably benign	Het
Helz2	A	G	2: 181,227,770	S2959P	probably benign	Het
Hyal6	A	G	6: 24,734,853	N262D	probably benign	Het
Lgr4	T	C	2: 110,011,320	L526P	probably damaging	Het
Mapk1	A	T	16: 17,016,046	I88F	probably benign	Het
Mpg	A	T	11: 32,231,853	H287L	probably benign	Het
Mpp4	A	T	1: 59,124,727	Y489*	probably null	Het
Mpzl1	T	C	1: 165,601,790	E224G	probably damaging	Het
Olfr1034	T	C	2: 86,047,204	S241P	probably damaging	Het
Olfr1340	T	A	4: 118,726,634	I129K	probably damaging	Het
Paip1	T	A	13: 119,447,790	F196I	probably damaging	Het
Pde3a	A	T	6: 141,498,657	K1064*	probably null	Het
Pira2	A	T	7: 3,844,197		probably benign	Het
Pros1	A	G	16: 62,903,518	S210G	probably benign	Het
Rbm15	A	T	3: 107,331,369	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,302,407	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Serpina1e	G	A	12: 103,949,227	T240I	probably benign	Het
Setx	T	G	2: 29,157,133	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,867,651	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366	V300A	probably damaging	Het
Spata46	A	G	1: 170,311,609	Y59C	probably damaging	Het
Supt3	T	C	17: 45,119,271	F404L	probably benign	Het
Tars	T	A	15: 11,394,366	K62*	probably null	Het
Tas2r139	A	C	6: 42,141,491	T186P	probably damaging	Het
Tc2n	C	T	12: 101,649,195	S457N	probably damaging	Het
Tox4	A	T	14: 52,292,628	S582C	probably benign	Het
Trappc12	T	C	12: 28,697,134		probably benign	Het
Ubqlnl	G	T	7: 104,148,638	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,392,124	T205A	probably benign	Het
Urb1	G	A	16: 90,777,422	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,072,738	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,508,949	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,570,319		probably benign	Het

Other mutations in Myh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myh10	APN	11	68790708	missense	probably benign	0.10
IGL01132:Myh10	APN	11	68768268	missense	possibly damaging	0.93
IGL01348:Myh10	APN	11	68811803	missense	probably benign	0.04
IGL01404:Myh10	APN	11	68752040	splice site	probably null
IGL01409:Myh10	APN	11	68807219	missense	probably damaging	0.98
IGL01660:Myh10	APN	11	68785889	missense	probably benign	0.00
IGL02111:Myh10	APN	11	68790112	missense	probably damaging	1.00
IGL02481:Myh10	APN	11	68802168	missense	probably benign	0.00
IGL02483:Myh10	APN	11	68802168	missense	probably benign	0.00
IGL02502:Myh10	APN	11	68814372	splice site	probably null
IGL03178:Myh10	APN	11	68699413	missense	probably benign	0.19
algia	UTSW	11	68802931	missense	probably damaging	1.00
itis	UTSW	11	68764245	missense	probably damaging	0.96
PIT4802001:Myh10	UTSW	11	68765092	missense	probably damaging	1.00
R0066:Myh10	UTSW	11	68699491	missense	probably damaging	1.00
R0066:Myh10	UTSW	11	68699491	missense	probably damaging	1.00
R0855:Myh10	UTSW	11	68811801	missense	possibly damaging	0.88
R1110:Myh10	UTSW	11	68791850	splice site	probably benign
R1135:Myh10	UTSW	11	68807197	missense	probably benign
R1169:Myh10	UTSW	11	68762841	missense	probably damaging	0.99
R1643:Myh10	UTSW	11	68792010	missense	probably damaging	0.96
R1733:Myh10	UTSW	11	68802296	missense	probably benign	0.06
R1754:Myh10	UTSW	11	68813058	missense	probably damaging	0.98
R1859:Myh10	UTSW	11	68745413	missense	probably benign	0.03
R1898:Myh10	UTSW	11	68771906	missense	probably damaging	1.00
R1905:Myh10	UTSW	11	68771868	splice site	probably benign
R1914:Myh10	UTSW	11	68790208	missense	probably damaging	0.99
R1915:Myh10	UTSW	11	68790208	missense	probably damaging	0.99
R1987:Myh10	UTSW	11	68814496	missense	possibly damaging	0.56
R2130:Myh10	UTSW	11	68807289	splice site	probably benign
R2132:Myh10	UTSW	11	68807289	splice site	probably benign
R2136:Myh10	UTSW	11	68804714	missense	probably damaging	1.00
R2214:Myh10	UTSW	11	68783127	missense	probably damaging	1.00
R2351:Myh10	UTSW	11	68793139	missense	probably damaging	1.00
R3407:Myh10	UTSW	11	68790211	missense	possibly damaging	0.68
R3721:Myh10	UTSW	11	68813052	missense	probably damaging	0.99
R3908:Myh10	UTSW	11	68771059	critical splice donor site	probably null
R4275:Myh10	UTSW	11	68751940	critical splice acceptor site	probably null
R4526:Myh10	UTSW	11	68815049	missense	probably benign	0.04
R4666:Myh10	UTSW	11	68801730	critical splice donor site	probably null
R4668:Myh10	UTSW	11	68804642	missense	probably damaging	1.00
R4750:Myh10	UTSW	11	68785314	missense	probably damaging	1.00
R4968:Myh10	UTSW	11	68793223	missense	probably damaging	1.00
R4977:Myh10	UTSW	11	68798371	missense	possibly damaging	0.55
R5201:Myh10	UTSW	11	68783195	missense	probably damaging	1.00
R5288:Myh10	UTSW	11	68801608	missense	probably damaging	1.00
R5304:Myh10	UTSW	11	68764245	missense	probably damaging	0.96
R5366:Myh10	UTSW	11	68760692	missense	probably damaging	0.97
R5384:Myh10	UTSW	11	68801608	missense	probably damaging	1.00
R5427:Myh10	UTSW	11	68802931	missense	probably damaging	1.00
R5546:Myh10	UTSW	11	68798380	missense	possibly damaging	0.90
R5551:Myh10	UTSW	11	68768287	missense	possibly damaging	0.65
R5777:Myh10	UTSW	11	68785859	missense	probably damaging	1.00
R5995:Myh10	UTSW	11	68814983	missense	probably benign	0.01
R6021:Myh10	UTSW	11	68808862	missense	possibly damaging	0.72
R6171:Myh10	UTSW	11	68791890	missense	probably damaging	1.00
R6179:Myh10	UTSW	11	68802153	missense	probably damaging	0.98
R6263:Myh10	UTSW	11	68810232	missense	probably damaging	0.98
R6264:Myh10	UTSW	11	68745415	missense	probably benign	0.01
R6484:Myh10	UTSW	11	68699467	missense	probably damaging	1.00
R6575:Myh10	UTSW	11	68808850	missense	probably benign	0.00
R6736:Myh10	UTSW	11	68745339	missense	probably damaging	1.00
R7141:Myh10	UTSW	11	68802139	missense	probably benign
R7256:Myh10	UTSW	11	68790689	missense	probably damaging	1.00
R7329:Myh10	UTSW	11	68810191	missense	probably benign	0.44
R7363:Myh10	UTSW	11	68815048	missense	probably benign
R7576:Myh10	UTSW	11	68802166	missense	probably damaging	1.00
R7577:Myh10	UTSW	11	68745980	missense	unknown
R7681:Myh10	UTSW	11	68771936	missense	probably damaging	0.98
R7813:Myh10	UTSW	11	68785909	missense	probably benign	0.00
R7834:Myh10	UTSW	11	68785826	missense	probably damaging	1.00
R7922:Myh10	UTSW	11	68808893	missense	possibly damaging	0.56
R7938:Myh10	UTSW	11	68692501	missense	unknown
R7958:Myh10	UTSW	11	68721347	missense	probably benign	0.00
R7994:Myh10	UTSW	11	68790244	critical splice donor site	probably null
R8395:Myh10	UTSW	11	68792016	missense	probably damaging	0.98
R8523:Myh10	UTSW	11	68797409	missense	probably benign	0.01
R8674:Myh10	UTSW	11	68814431	missense	probably damaging	0.98
R8816:Myh10	UTSW	11	68802952	missense	probably damaging	0.97
R8912:Myh10	UTSW	11	68790103	critical splice acceptor site	probably null
R9057:Myh10	UTSW	11	68765185	missense	possibly damaging	0.82
R9333:Myh10	UTSW	11	68790154	missense	probably benign	0.12
R9586:Myh10	UTSW	11	68812994	missense	possibly damaging	0.56
R9617:Myh10	UTSW	11	68791989	missense	probably benign	0.21
X0028:Myh10	UTSW	11	68793135	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAAGCAGCAGAGAGGTCACCACAG -3'
(R):5'- TCAGTGTGTCCACCTACAAGAGGAG -3'

Sequencing Primer
(F):5'- AGGTCACCACAGTGGTTCAG -3'
(R):5'- GGAGGTCAGATAACCTGTGC -3'

Posted On

2014-07-16