Mutagenetix > Incidental Mutation

Incidental Mutation 'R3407:Myh10'

258331

Institutional Source

Beutler Lab

Gene Symbol

Myh10

Ensembl Gene

ENSMUSG00000020900

Gene Name

myosin, heavy polypeptide 10, non-muscle

Synonyms

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

MMRRC Submission

040625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68582385-68707458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68681037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 989 (L989R)

Ref Sequence

ENSEMBL: ENSMUSP00000099671 (fasta)

Gene Model

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

AlphaFold

Q61879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018887
AA Change: L1020R

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: L1020R

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

possibly damaging
Transcript: ENSMUST00000092984
AA Change: L1026R

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: L1026R

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: L989R

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: L989R

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: ENSMUST00000145408

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.3%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	A	T	X: 56,013,487 (GRCm39)	I2838F	probably damaging	Het
Agbl2	G	A	2: 90,621,962 (GRCm39)	V150I	probably damaging	Het
Ambra1	T	C	2: 91,740,652 (GRCm39)	S924P	probably damaging	Het
Arfgap3	T	C	15: 83,206,808 (GRCm39)	D260G	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Bag3	TAAAG	TAAAGAAAG	7: 128,147,492 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Carm1	C	T	9: 21,497,478 (GRCm39)	R347W	probably damaging	Het
Ccdc30	A	T	4: 119,181,778 (GRCm39)	F577I	possibly damaging	Het
Ces3a	T	A	8: 105,777,199 (GRCm39)	V174E	probably damaging	Het
Cobl	T	C	11: 12,325,830 (GRCm39)	Y215C	probably damaging	Het
Cybrd1	A	T	2: 70,948,470 (GRCm39)	M3L	probably damaging	Het
Dis3	A	G	14: 99,336,212 (GRCm39)	V98A	probably benign	Het
Dsg1c	G	A	18: 20,415,115 (GRCm39)		probably null	Het
Eif4a1	A	T	11: 69,561,089 (GRCm39)	V72E	probably damaging	Het
Fmn1	A	T	2: 113,195,400 (GRCm39)	I367F	unknown	Het
Fnbp1l	A	C	3: 122,345,799 (GRCm39)	W229G	probably damaging	Het
Inka1	C	T	9: 107,862,253 (GRCm39)	R23Q	probably damaging	Het
Ints6	A	T	14: 62,934,386 (GRCm39)	I707K	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Kif20b	T	C	19: 34,927,900 (GRCm39)	L1014P	probably damaging	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Mbd1	A	G	18: 74,410,438 (GRCm39)	K414E	possibly damaging	Het
Mfsd1	T	A	3: 67,504,046 (GRCm39)	M346K	possibly damaging	Het
Mthfr	T	C	4: 148,139,518 (GRCm39)	I66T	probably damaging	Het
Ncan	G	A	8: 70,564,801 (GRCm39)	T271I	probably damaging	Het
Or10ag53	A	C	2: 87,083,243 (GRCm39)	T321P	probably benign	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Pate2	C	T	9: 35,582,262 (GRCm39)	T80I	probably damaging	Het
Pcdhb15	A	G	18: 37,607,442 (GRCm39)	T225A	possibly damaging	Het
Pde4dip	C	A	3: 97,661,784 (GRCm39)	L640F	probably damaging	Het
Plch1	A	G	3: 63,606,768 (GRCm39)		probably benign	Het
Pus3	C	T	9: 35,478,021 (GRCm39)	R418C	probably damaging	Het
Sall2	G	T	14: 52,565,561 (GRCm39)	N24K	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Smco3	A	G	6: 136,808,425 (GRCm39)	S150P	probably benign	Het
Spag17	G	T	3: 99,992,615 (GRCm39)	A1704S	probably benign	Het
Tecta	A	T	9: 42,249,150 (GRCm39)	I1904N	probably damaging	Het
Ttn	T	A	2: 76,536,281 (GRCm39)	K33280*	probably null	Het
Uggt2	T	C	14: 119,328,682 (GRCm39)	D90G	probably benign	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Zbtb10	A	G	3: 9,329,926 (GRCm39)	N428S	probably damaging	Het
Zfp407	G	A	18: 84,576,997 (GRCm39)	A1372V	probably benign	Het

Other mutations in Myh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myh10	APN	11	68,681,534 (GRCm39)	missense	probably benign	0.10
IGL01132:Myh10	APN	11	68,659,094 (GRCm39)	missense	possibly damaging	0.93
IGL01348:Myh10	APN	11	68,702,629 (GRCm39)	missense	probably benign	0.04
IGL01404:Myh10	APN	11	68,642,866 (GRCm39)	splice site	probably null
IGL01409:Myh10	APN	11	68,698,045 (GRCm39)	missense	probably damaging	0.98
IGL01660:Myh10	APN	11	68,676,715 (GRCm39)	missense	probably benign	0.00
IGL02111:Myh10	APN	11	68,680,938 (GRCm39)	missense	probably damaging	1.00
IGL02481:Myh10	APN	11	68,692,994 (GRCm39)	missense	probably benign	0.00
IGL02483:Myh10	APN	11	68,692,994 (GRCm39)	missense	probably benign	0.00
IGL02502:Myh10	APN	11	68,705,198 (GRCm39)	splice site	probably null
IGL03178:Myh10	APN	11	68,590,239 (GRCm39)	missense	probably benign	0.19
algia	UTSW	11	68,693,757 (GRCm39)	missense	probably damaging	1.00
itis	UTSW	11	68,655,071 (GRCm39)	missense	probably damaging	0.96
PIT4802001:Myh10	UTSW	11	68,655,918 (GRCm39)	missense	probably damaging	1.00
R0066:Myh10	UTSW	11	68,590,317 (GRCm39)	missense	probably damaging	1.00
R0066:Myh10	UTSW	11	68,590,317 (GRCm39)	missense	probably damaging	1.00
R0517:Myh10	UTSW	11	68,702,425 (GRCm39)	critical splice acceptor site	probably null
R0855:Myh10	UTSW	11	68,702,627 (GRCm39)	missense	possibly damaging	0.88
R1110:Myh10	UTSW	11	68,682,676 (GRCm39)	splice site	probably benign
R1135:Myh10	UTSW	11	68,698,023 (GRCm39)	missense	probably benign
R1169:Myh10	UTSW	11	68,653,667 (GRCm39)	missense	probably damaging	0.99
R1643:Myh10	UTSW	11	68,682,836 (GRCm39)	missense	probably damaging	0.96
R1733:Myh10	UTSW	11	68,693,122 (GRCm39)	missense	probably benign	0.06
R1754:Myh10	UTSW	11	68,703,884 (GRCm39)	missense	probably damaging	0.98
R1859:Myh10	UTSW	11	68,636,239 (GRCm39)	missense	probably benign	0.03
R1898:Myh10	UTSW	11	68,662,732 (GRCm39)	missense	probably damaging	1.00
R1905:Myh10	UTSW	11	68,662,694 (GRCm39)	splice site	probably benign
R1914:Myh10	UTSW	11	68,681,034 (GRCm39)	missense	probably damaging	0.99
R1915:Myh10	UTSW	11	68,681,034 (GRCm39)	missense	probably damaging	0.99
R1987:Myh10	UTSW	11	68,705,322 (GRCm39)	missense	possibly damaging	0.56
R2130:Myh10	UTSW	11	68,698,115 (GRCm39)	splice site	probably benign
R2132:Myh10	UTSW	11	68,698,115 (GRCm39)	splice site	probably benign
R2136:Myh10	UTSW	11	68,695,540 (GRCm39)	missense	probably damaging	1.00
R2214:Myh10	UTSW	11	68,673,953 (GRCm39)	missense	probably damaging	1.00
R2351:Myh10	UTSW	11	68,683,965 (GRCm39)	missense	probably damaging	1.00
R3721:Myh10	UTSW	11	68,703,878 (GRCm39)	missense	probably damaging	0.99
R3908:Myh10	UTSW	11	68,661,885 (GRCm39)	critical splice donor site	probably null
R4275:Myh10	UTSW	11	68,642,766 (GRCm39)	critical splice acceptor site	probably null
R4526:Myh10	UTSW	11	68,705,875 (GRCm39)	missense	probably benign	0.04
R4666:Myh10	UTSW	11	68,692,556 (GRCm39)	critical splice donor site	probably null
R4668:Myh10	UTSW	11	68,695,468 (GRCm39)	missense	probably damaging	1.00
R4750:Myh10	UTSW	11	68,676,140 (GRCm39)	missense	probably damaging	1.00
R4968:Myh10	UTSW	11	68,684,049 (GRCm39)	missense	probably damaging	1.00
R4977:Myh10	UTSW	11	68,689,197 (GRCm39)	missense	possibly damaging	0.55
R5201:Myh10	UTSW	11	68,674,021 (GRCm39)	missense	probably damaging	1.00
R5288:Myh10	UTSW	11	68,692,434 (GRCm39)	missense	probably damaging	1.00
R5304:Myh10	UTSW	11	68,655,071 (GRCm39)	missense	probably damaging	0.96
R5366:Myh10	UTSW	11	68,651,518 (GRCm39)	missense	probably damaging	0.97
R5384:Myh10	UTSW	11	68,692,434 (GRCm39)	missense	probably damaging	1.00
R5427:Myh10	UTSW	11	68,693,757 (GRCm39)	missense	probably damaging	1.00
R5546:Myh10	UTSW	11	68,689,206 (GRCm39)	missense	possibly damaging	0.90
R5551:Myh10	UTSW	11	68,659,113 (GRCm39)	missense	possibly damaging	0.65
R5777:Myh10	UTSW	11	68,676,685 (GRCm39)	missense	probably damaging	1.00
R5995:Myh10	UTSW	11	68,705,809 (GRCm39)	missense	probably benign	0.01
R6021:Myh10	UTSW	11	68,699,688 (GRCm39)	missense	possibly damaging	0.72
R6171:Myh10	UTSW	11	68,682,716 (GRCm39)	missense	probably damaging	1.00
R6179:Myh10	UTSW	11	68,692,979 (GRCm39)	missense	probably damaging	0.98
R6263:Myh10	UTSW	11	68,701,058 (GRCm39)	missense	probably damaging	0.98
R6264:Myh10	UTSW	11	68,636,241 (GRCm39)	missense	probably benign	0.01
R6484:Myh10	UTSW	11	68,590,293 (GRCm39)	missense	probably damaging	1.00
R6575:Myh10	UTSW	11	68,699,676 (GRCm39)	missense	probably benign	0.00
R6736:Myh10	UTSW	11	68,636,165 (GRCm39)	missense	probably damaging	1.00
R7141:Myh10	UTSW	11	68,692,965 (GRCm39)	missense	probably benign
R7256:Myh10	UTSW	11	68,681,515 (GRCm39)	missense	probably damaging	1.00
R7329:Myh10	UTSW	11	68,701,017 (GRCm39)	missense	probably benign	0.44
R7363:Myh10	UTSW	11	68,705,874 (GRCm39)	missense	probably benign
R7576:Myh10	UTSW	11	68,692,992 (GRCm39)	missense	probably damaging	1.00
R7577:Myh10	UTSW	11	68,636,806 (GRCm39)	missense	unknown
R7681:Myh10	UTSW	11	68,662,762 (GRCm39)	missense	probably damaging	0.98
R7813:Myh10	UTSW	11	68,676,735 (GRCm39)	missense	probably benign	0.00
R7834:Myh10	UTSW	11	68,676,652 (GRCm39)	missense	probably damaging	1.00
R7922:Myh10	UTSW	11	68,699,719 (GRCm39)	missense	possibly damaging	0.56
R7938:Myh10	UTSW	11	68,583,327 (GRCm39)	missense	unknown
R7958:Myh10	UTSW	11	68,612,173 (GRCm39)	missense	probably benign	0.00
R7994:Myh10	UTSW	11	68,681,070 (GRCm39)	critical splice donor site	probably null
R8395:Myh10	UTSW	11	68,682,842 (GRCm39)	missense	probably damaging	0.98
R8523:Myh10	UTSW	11	68,688,235 (GRCm39)	missense	probably benign	0.01
R8674:Myh10	UTSW	11	68,705,257 (GRCm39)	missense	probably damaging	0.98
R8816:Myh10	UTSW	11	68,693,778 (GRCm39)	missense	probably damaging	0.97
R8912:Myh10	UTSW	11	68,680,929 (GRCm39)	critical splice acceptor site	probably null
R9057:Myh10	UTSW	11	68,656,011 (GRCm39)	missense	possibly damaging	0.82
R9333:Myh10	UTSW	11	68,680,980 (GRCm39)	missense	probably benign	0.12
R9586:Myh10	UTSW	11	68,703,820 (GRCm39)	missense	possibly damaging	0.56
R9617:Myh10	UTSW	11	68,682,815 (GRCm39)	missense	probably benign	0.21
X0028:Myh10	UTSW	11	68,683,961 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTGTGCTCTTGCTATGCAG -3'
(R):5'- ACTACAAGTGGCGTAGATGG -3'

Sequencing Primer
(F):5'- GCTGAAGCTGGTGGAGAAACTG -3'
(R):5'- GCTAAGTAGAGCCTGTCTTTAGAAC -3'

Posted On

2015-01-23