Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:Myh10'

334451

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

041591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68582385-68707458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68705875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2007 (T2007I)

Ref Sequence

ENSEMBL: ENSMUSP00000090661 (fasta)

Gene Model

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

AlphaFold

Q61879

Predicted Effect

probably benign
Transcript: ENSMUST00000018887
AA Change: T2001I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: T2001I

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: T2007I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: T2007I

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 benign
Transcript: ENSMUST00000102611
AA Change: T1970I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: T1970I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,535 (GRCm39)	R178C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre4	C	A	17: 56,092,016 (GRCm39)	S92*	probably null	Het
Arl13b	T	C	16: 62,632,374 (GRCm39)	D73G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Crebzf	A	C	7: 90,092,968 (GRCm39)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,022,778 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,007,955 (GRCm39)	D2151Y	probably benign	Het
Gli3	A	G	13: 15,888,216 (GRCm39)	K544E	probably damaging	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Lcn9	A	C	2: 25,714,520 (GRCm39)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,477,844 (GRCm39)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,544,373 (GRCm39)		probably null	Het
Ly75	G	A	2: 60,161,117 (GRCm39)	T900M	probably benign	Het
Mapk15	A	T	15: 75,867,104 (GRCm39)	I74F	possibly damaging	Het
Nek1	T	C	8: 61,559,978 (GRCm39)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,960,167 (GRCm39)		probably null	Het
Or4x6	T	C	2: 89,949,016 (GRCm39)	K309E	probably benign	Het
Or5l13	T	C	2: 87,779,753 (GRCm39)	T275A	probably benign	Het
Or8h8	C	T	2: 86,753,339 (GRCm39)	C179Y	possibly damaging	Het
Otogl	G	A	10: 107,722,841 (GRCm39)	P297S	probably damaging	Het
Plekhm1	A	G	11: 103,286,130 (GRCm39)	S102P	probably damaging	Het
Plvap	G	A	8: 71,960,415 (GRCm39)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,474,561 (GRCm39)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,649,335 (GRCm39)	I246T	probably benign	Het
Rims2	A	T	15: 39,301,113 (GRCm39)	K281N	probably damaging	Het
Scamp4	T	C	10: 80,446,891 (GRCm39)	F108S	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sntb2	C	A	8: 107,736,595 (GRCm39)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,359,383 (GRCm39)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,139,128 (GRCm39)	S347G	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,445,145 (GRCm39)	V860A	probably benign	Het
Vmn2r60	A	G	7: 41,844,667 (GRCm39)	T677A	probably damaging	Het
Zfp318	T	A	17: 46,723,284 (GRCm39)	H1762Q	probably benign	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,649,527 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,935,328 (GRCm39)	Y59H	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
R3407:Myh10	UTSW	11	68,681,037 (GRCm39)	missense	possibly damaging	0.68
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
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'- GTTTAGAACCCAGCAGCCTC -3'
(R):5'- TAATACGCATGTCTTGTGGAGG -3'

Sequencing Primer
(F):5'- TTAGAACCCAGCAGCCTCATGTTC -3'
(R):5'- CTAGTCTGAAGCAGGATATAGTCTGC -3'

Posted On

2015-08-18