Mutagenetix > Incidental Mutation

Incidental Mutation 'R3908:Myh10'

310296

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68582385-68707458 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 68661885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099671 (fasta)

Gene Model

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

AlphaFold

Q61879

Predicted Effect

probably null
Transcript: ENSMUST00000018887

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900

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 null
Transcript: ENSMUST00000092984

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900

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 null
Transcript: ENSMUST00000102611

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,067,151 (GRCm39)	V1352A	possibly damaging	Het
Abcb7	G	T	X: 103,327,765 (GRCm39)	Q715K	probably benign	Het
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Cacng1	C	A	11: 107,607,118 (GRCm39)	V34L	probably benign	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Esp34	A	G	17: 38,870,532 (GRCm39)	D74G	possibly damaging	Het
Fanci	T	C	7: 79,083,257 (GRCm39)	V748A	possibly damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Il22	C	T	10: 118,041,529 (GRCm39)	R81*	probably null	Het
Jak2	T	A	19: 29,268,673 (GRCm39)	L583Q	probably damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Kif11	A	G	19: 37,379,169 (GRCm39)	I287V	probably damaging	Het
Lasp1	G	A	11: 97,690,653 (GRCm39)	V12M	probably damaging	Het
Matr3	C	T	18: 35,705,894 (GRCm39)	P273L	probably damaging	Het
Mpp4	T	A	1: 59,188,196 (GRCm39)	H183L	probably damaging	Het
Or52h7	T	C	7: 104,213,848 (GRCm39)	I140T	probably benign	Het
Ppp1r12b	A	G	1: 134,770,470 (GRCm39)	S617P	probably damaging	Het
Psmb1	T	C	17: 15,710,543 (GRCm39)	Y2C	probably damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Serpinb9f	A	G	13: 33,511,919 (GRCm39)	T141A	probably damaging	Het
Slc38a4	T	C	15: 96,910,875 (GRCm39)		probably null	Het
Vmn2r9	C	A	5: 108,995,785 (GRCm39)	A288S	probably benign	Het
Zbtb12	A	T	17: 35,115,244 (GRCm39)		probably null	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
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'- ACTAGCTTTGTCAGTGCTCAC -3'
(R):5'- TGGCCAGCCAAGTTTGTTTC -3'

Sequencing Primer
(F):5'- GCCTCTCATTCTCAGGCCAATC -3'
(R):5'- TCACTATGGCCAAGGCAGTTCTAG -3'

Posted On

2015-04-17