Mutagenetix > Incidental Mutation

Incidental Mutation 'R5551:Myh10'

435138

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

043108-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5551 (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 68768287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 497 (E497G)

Ref Sequence

ENSEMBL: ENSMUSP00000099671 (fasta)

Gene Model

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

AlphaFold

Q61879

Predicted Effect

probably benign
Transcript: ENSMUST00000018887
AA Change: E507G

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: E507G

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 benign
Transcript: ENSMUST00000092984
AA Change: E534G

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: E534G

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

possibly damaging
Transcript: ENSMUST00000102611
AA Change: E497G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: E497G

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: ENSMUST00000155765

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	A	G	16: 38,827,974	Y258H	probably benign	Het
AB041806	G	T	4: 138,396,001	P3T	probably damaging	Het
Abl1	C	T	2: 31,801,670	A1048V	probably benign	Het
Acap2	A	G	16: 31,104,908	V659A	probably damaging	Het
Acox1	A	G	11: 116,189,491	S29P	possibly damaging	Het
Adamts1	A	G	16: 85,797,746	I405T	probably benign	Het
Afm	A	T	5: 90,531,652	E335V	probably null	Het
Akap6	C	T	12: 52,795,964	P32S	probably damaging	Het
Alk	T	C	17: 71,875,033	M1332V	possibly damaging	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Atp2c1	C	A	9: 105,459,737	A16S	probably damaging	Het
Ccdc141	T	C	2: 77,014,409	E1438G	probably damaging	Het
Csmd2	T	C	4: 128,510,948	Y2376H	possibly damaging	Het
Csmd3	T	C	15: 48,314,096	T349A	probably benign	Het
Ctsr	A	T	13: 61,159,543	M313K	probably damaging	Het
D430042O09Rik	T	C	7: 125,820,077	F472S	probably damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,783,628		probably benign	Het
Dync2h1	A	G	9: 7,031,718	S3516P	possibly damaging	Het
Ehd4	A	G	2: 120,127,619	S162P	possibly damaging	Het
Ets2	T	C	16: 95,712,121	W114R	probably damaging	Het
Fignl1	A	T	11: 11,801,603	V484E	probably damaging	Het
Golph3	C	A	15: 12,321,836	S35R	probably benign	Het
Gzf1	T	C	2: 148,684,328	Y240H	probably damaging	Het
Hook3	A	G	8: 26,068,611	F75S	possibly damaging	Het
Ifi209	T	A	1: 173,641,197	S198T	probably benign	Het
Iqch	A	T	9: 63,496,253		probably null	Het
Lrrk2	C	T	15: 91,812,350	T2447I	probably benign	Het
Mesp2	T	C	7: 79,811,619	S231P	probably benign	Het
Muc5b	T	C	7: 141,868,503	C4459R	possibly damaging	Het
Nalcn	A	T	14: 123,278,286	V1701E	possibly damaging	Het
Nat8f1	T	C	6: 85,910,909	D23G	probably damaging	Het
Nfia	G	A	4: 98,014,260	E250K	probably damaging	Het
Nup155	A	G	15: 8,148,333	M1067V	probably benign	Het
Olfr1280	T	C	2: 111,315,571	F31L	possibly damaging	Het
Pde4d	T	A	13: 109,948,396		probably null	Het
Rtn4	G	A	11: 29,741,011	V1101I	probably damaging	Het
Sema4c	A	G	1: 36,552,317	Y348H	probably damaging	Het
Sema6a	A	G	18: 47,248,528	V958A	possibly damaging	Het
Sez6l2	A	G	7: 126,966,830	Y677C	probably damaging	Het
Smad5	T	C	13: 56,735,841	C347R	probably damaging	Het
Smim19	A	G	8: 22,463,367	Y95H	probably benign	Het
Srrm2	C	A	17: 23,818,476		probably benign	Het
Ssb	A	G	2: 69,871,130	K390E	probably damaging	Het
Tars	G	A	15: 11,391,982	T248M	probably damaging	Het
Tcirg1	A	T	19: 3,898,858	F442L	probably damaging	Het
Tlk2	A	G	11: 105,221,307	E162G	probably benign	Het
Tmc6	A	G	11: 117,769,445	C656R	probably damaging	Het
Ttn	G	T	2: 76,889,062		probably benign	Het
Uqcrc2	C	T	7: 120,645,238	T201I	probably damaging	Het
Zfp282	G	T	6: 47,890,645	A252S	possibly damaging	Het
Zfp473	G	C	7: 44,734,151	P253A	probably benign	Het
Zfp541	A	G	7: 16,090,861	N1068D	probably damaging	Het
Zfp946	A	G	17: 22,455,384	Q373R	probably damaging	Het
Zmat2	G	A	18: 36,793,957	G6R	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
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
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
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'- ATGTGAGAGACAGAGAGCCCTC -3'
(R):5'- AGATCGTCTGTCTCAGATTATGCC -3'

Sequencing Primer
(F):5'- TCTGTGCTGCCTACGGAATAG -3'
(R):5'- CGTCTGTCTCAGATTATGCCAGAAAG -3'

Posted On

2016-10-24