Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Myh10'

404450

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

042887-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68691559-68816632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68764245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 380 (K380R)

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: K390R

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: K390R

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: K417R

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: K417R

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: K380R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: K380R

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

Meta Mutation Damage Score

0.1536

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,424,232	T49S	probably benign	Het
Adcy1	C	T	11: 7,064,198	A200V	probably benign	Het
Adgrv1	T	C	13: 81,578,253	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,253,712	V340A	probably damaging	Het
Amy1	C	A	3: 113,558,364	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,789,734	V310A	probably benign	Het
Arhgef15	T	C	11: 68,947,237	S686G	probably null	Het
Arid4b	T	A	13: 14,186,929	N659K	probably benign	Het
Asz1	C	T	6: 18,076,620	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,988,557	I947V	probably damaging	Het
AW011738	G	A	4: 156,203,512		probably benign	Het
Bfsp1	G	T	2: 143,827,291	T456K	probably benign	Het
Cdc25c	T	C	18: 34,750,811	T40A	possibly damaging	Het
Cdh7	G	A	1: 110,108,839	C583Y	probably damaging	Het
Cfap54	A	T	10: 92,821,106	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,754,951	S1088G	probably benign	Het
Chd1	A	T	17: 15,770,268	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,663,390	E580*	probably null	Het
Dip2a	A	T	10: 76,294,523	M622K	possibly damaging	Het
Dlgap1	A	T	17: 70,815,207	H877L	probably damaging	Het
Egfr	G	T	11: 16,884,260	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,147,206	D114E	probably damaging	Het
Eva1c	T	C	16: 90,869,663	L158P	probably damaging	Het
Exo1	G	A	1: 175,892,976	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,225,617	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,942,066	T8S	probably benign	Het
Fgfr2	G	T	7: 130,167,774	P630T	probably damaging	Het
Fmo5	G	A	3: 97,651,622	G466E	probably damaging	Het
Gm5155	A	C	7: 17,902,692	E231D	probably benign	Het
Hcn4	A	G	9: 58,843,932	I280M	probably benign	Het
Ifi208	A	C	1: 173,683,608	K443T	probably benign	Het
Irs3	A	G	5: 137,644,741	F145S	probably benign	Het
Kirrel	T	A	3: 87,089,595	H300L	probably benign	Het
Krit1	A	G	5: 3,819,326	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,467,749	D140G	unknown	Het
Lrrtm4	A	T	6: 80,022,700	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,131,150	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,353,729	S240R	possibly damaging	Het
Map3k5	A	G	10: 20,108,238	I870V	probably benign	Het
Mmp17	A	T	5: 129,594,614	E76V	probably null	Het
Mphosph10	A	G	7: 64,388,984	F272L	probably damaging	Het
Myo3b	C	T	2: 70,426,888	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,643,079		probably benign	Het
Ola1	T	C	2: 73,199,434	I114V	probably damaging	Het
Olfr1066	T	A	2: 86,455,435	T279S	probably damaging	Het
Olfr140	T	A	2: 90,051,913	H137L	probably benign	Het
Pabpc4	T	G	4: 123,290,307	D204E	probably benign	Het
Pigr	A	T	1: 130,849,493	M679L	probably benign	Het
Pik3c2b	A	T	1: 133,070,408	M341L	possibly damaging	Het
Plin4	T	A	17: 56,106,132	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,515,685	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,592,054		probably null	Het
Rapgef6	T	C	11: 54,657,374	S505P	probably benign	Het
Rgmb	G	T	17: 15,820,728	S199*	probably null	Het
Rgsl1	T	C	1: 153,827,492	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,269,912	K102N	probably damaging	Het
Ripor2	A	T	13: 24,674,666	D147V	probably damaging	Het
Rsad2	A	T	12: 26,450,682	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,793,307	N186S	probably damaging	Het
Soga1	G	A	2: 157,023,817	Q1127*	probably null	Het
Sorbs3	G	A	14: 70,184,896	R622*	probably null	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Srgap3	T	C	6: 112,766,939	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,678,243	R574*	probably null	Het
Tmem74	A	T	15: 43,866,821	Y275*	probably null	Het
Topors	A	T	4: 40,262,541	S248T	possibly damaging	Het
Trpm1	A	T	7: 64,208,946	Y239F	probably benign	Het
Ttn	T	A	2: 76,718,183	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 86,892,865	F399L	probably damaging	Het
Ush2a	A	T	1: 188,356,798	I317F	probably damaging	Het
Usp1	T	C	4: 98,934,618	V723A	probably benign	Het
Usp34	T	G	11: 23,343,616	L237V	probably damaging	Het
Vgf	A	T	5: 137,032,286	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,928,675	N97S	probably benign	Het
Vps13a	A	G	19: 16,710,387	L899P	possibly damaging	Het
Vps33b	A	T	7: 80,274,253	I41F	probably damaging	Het
Zap70	A	T	1: 36,778,218	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,928,915	D300G	probably benign	Het
Zfp958	C	A	8: 4,626,196	H55N	possibly 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
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
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'- GAGGTCACTCTTCTAGAAGGCC -3'
(R):5'- GACAGTTCTGTGTCTCTTACTAGC -3'

Sequencing Primer
(F):5'- ACTCTTCTAGAAGGCCAGGGG -3'
(R):5'- TACACGTCAGGCAGGGTTC -3'

Posted On

2016-07-22