Mutagenetix > Incidental Mutation

Incidental Mutation 'R4668:Myh10'

352182

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68691559-68816632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68804642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1532 (K1532E)

Ref Sequence

ENSEMBL: ENSMUSP00000099671 (fasta)

Gene Model

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

AlphaFold

Q61879

Predicted Effect

probably damaging
Transcript: ENSMUST00000018887
AA Change: K1563E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: K1563E

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 damaging
Transcript: ENSMUST00000092984
AA Change: K1569E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: K1569E

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 damaging
Transcript: ENSMUST00000102611
AA Change: K1532E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: K1532E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	T	9: 114,304,711		noncoding transcript	Het
6430548M08Rik	T	C	8: 120,160,414		probably null	Het
Abca4	G	A	3: 122,155,299	G531E	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Acot10	T	C	15: 20,665,942	S238G	probably benign	Het
Adamtsl2	A	T	2: 27,095,475	H457L	probably benign	Het
Ankrd35	A	T	3: 96,679,208	T67S	probably damaging	Het
Aox2	T	G	1: 58,334,694	I838S	possibly damaging	Het
Arnt2	T	C	7: 84,275,386	N411S	probably damaging	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Carns1	A	T	19: 4,165,476	Y902*	probably null	Het
Cavin1	T	C	11: 100,958,796	E336G	probably damaging	Het
Cbl	A	T	9: 44,153,848	C728S	probably benign	Het
Ccdc136	C	A	6: 29,411,281	Q218K	probably damaging	Het
Cdk19	C	A	10: 40,466,710	T196K	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Ces3a	A	C	8: 105,053,423	K299T	probably damaging	Het
Cfap61	A	T	2: 146,143,136	I967F	probably damaging	Het
Cnksr1	C	T	4: 134,232,971		probably benign	Het
Cped1	T	C	6: 22,237,653	Y923H	probably benign	Het
Crip3	T	C	17: 46,429,364	L30P	probably damaging	Het
Csmd1	A	G	8: 16,023,891	I2030T	possibly damaging	Het
Ctse	C	A	1: 131,662,749	P70T	probably damaging	Het
Cyp2b23	A	G	7: 26,672,734	F429L	probably damaging	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
D8Ertd738e	A	T	8: 84,249,481	L46*	probably null	Het
Dcp2	T	A	18: 44,415,362		probably null	Het
Ddx10	C	A	9: 53,099,213	D834Y	possibly damaging	Het
Ddx19a	A	T	8: 110,979,084	V245E	probably damaging	Het
Dpf2	A	C	19: 5,904,487	D130E	probably benign	Het
Emc8	A	T	8: 120,667,779	M67K	probably damaging	Het
Ephb6	T	C	6: 41,614,602	L231P	possibly damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
Esco1	A	T	18: 10,594,734	I184N	possibly damaging	Het
Fam205c	A	G	4: 42,871,608	F256L	probably benign	Het
Fdxacb1	T	A	9: 50,770,260	D11E	possibly damaging	Het
Fhod3	C	T	18: 25,066,338	P689S	probably benign	Het
Fnip1	T	A	11: 54,503,559	S940R	probably damaging	Het
Ganc	G	T	2: 120,431,067	V343F	probably benign	Het
Gldn	T	A	9: 54,332,018	L228*	probably null	Het
Gm1123	C	T	9: 99,009,373	R341H	probably damaging	Het
Gtf2f2	T	C	14: 75,917,638	Y161C	probably benign	Het
Gtf3c1	T	C	7: 125,667,338	T979A	probably damaging	Het
Hist1h4a	A	G	13: 23,760,976	V61A	probably benign	Het
Hmcn2	G	T	2: 31,435,792	R4277L	probably benign	Het
Hsd17b6	T	A	10: 127,994,426		probably null	Het
Igkv12-46	T	C	6: 69,764,797	T25A	probably damaging	Het
Inpp5e	G	A	2: 26,400,994	R354C	probably damaging	Het
Jcad	T	A	18: 4,680,221		probably null	Het
Kcna10	G	T	3: 107,194,694	A214S	possibly damaging	Het
Kit	T	C	5: 75,641,220		probably null	Het
Kmt2a	G	A	9: 44,824,572		probably benign	Het
Lama1	T	C	17: 67,752,434	V604A	probably benign	Het
Mesd	T	C	7: 83,895,756	V138A	probably damaging	Het
Mmp13	T	C	9: 7,272,580	F9S	possibly damaging	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Mrc1	A	C	2: 14,293,486	T718P	probably damaging	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Nat9	T	C	11: 115,184,542	N91S	probably damaging	Het
Neto2	A	T	8: 85,641,062	I351N	probably damaging	Het
Nfx1	A	G	4: 40,976,367	N14D	possibly damaging	Het
Nlrp4b	A	G	7: 10,714,733	T288A	possibly damaging	Het
Nutm2	C	A	13: 50,472,997	T396K	probably benign	Het
Ogdhl	A	G	14: 32,332,536	T196A	probably benign	Het
Olfr1453	A	T	19: 13,028,081	F83I	probably benign	Het
Olfr548-ps1	A	G	7: 102,542,604	I223V	possibly damaging	Het
Olfr582	A	T	7: 103,041,851	D119V	probably benign	Het
Omg	T	A	11: 79,502,423	N203I	probably damaging	Het
Pdgfrb	A	G	18: 61,064,113	Y207C	probably damaging	Het
Pdzd7	T	A	19: 45,045,687		probably benign	Het
Pgs1	C	A	11: 118,003,507	H157N	probably damaging	Het
Pik3c2a	A	G	7: 116,358,688	V1121A	probably benign	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Pms1	G	A	1: 53,189,474	Q872*	probably null	Het
Ptgs2	A	G	1: 150,101,084	T23A	probably benign	Het
Rgl1	T	G	1: 152,521,371	R716S	probably damaging	Het
Rif1	A	G	2: 52,111,952	E1806G	probably benign	Het
Ripor1	T	C	8: 105,614,652	V39A	probably benign	Het
Ryr2	G	T	13: 11,593,117	T868N	probably benign	Het
Sec22b	A	T	3: 97,921,122	D167V	probably damaging	Het
Sec24d	T	C	3: 123,355,774	V810A	probably damaging	Het
Shh	T	C	5: 28,457,855	*438W	probably null	Het
Slc25a12	G	A	2: 71,315,062	S178L	probably benign	Het
Sorl1	A	T	9: 41,984,508	W1784R	probably damaging	Het
Sp3	A	T	2: 72,970,981	S229R	probably damaging	Het
Spdye4c	G	A	2: 128,592,353	V5I	possibly damaging	Het
Spint2	A	T	7: 29,260,379	V53D	probably damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Stk25	A	G	1: 93,625,483	S299P	probably damaging	Het
Sult2a3	A	G	7: 14,122,861	S45P	probably damaging	Het
Thsd7a	A	T	6: 12,408,968	V685E	probably damaging	Het
Tm9sf4	T	A	2: 153,187,308	V92D	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Topors	G	A	4: 40,262,669	T205I	probably damaging	Het
Tpo	T	A	12: 30,103,290	Y355F	probably benign	Het
Uba1y	T	A	Y: 826,032	M396K	possibly damaging	Het
Vmn1r50	A	T	6: 90,107,531	Q86L	probably benign	Het
Vmn1r77	A	G	7: 12,041,431	K45E	probably damaging	Het
Vmn2r114	A	C	17: 23,310,473	N218K	possibly damaging	Het
Vmn2r66	T	A	7: 84,994,697	N835I	probably damaging	Het
Vps54	T	G	11: 21,299,989	N458K	probably benign	Het
Zcchc7	G	T	4: 44,895,964	C304F	probably damaging	Het
Zfp335	A	T	2: 164,900,286	C593S	probably damaging	Het
Zmynd15	C	G	11: 70,462,588	P214R	probably damaging	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
R0517:Myh10	UTSW	11	68811599	critical splice acceptor site	probably null
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
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'- TGATCTCTTCTGAGGCTCACAC -3'
(R):5'- ACTGCCAGACTCAGCCTTTC -3'

Sequencing Primer
(F):5'- CTCACACAGCAGGCGCC -3'
(R):5'- TAGTGCTTCCCAGGGCAC -3'

Posted On

2015-10-08