Mutagenetix > Incidental Mutation

Incidental Mutation 'R4275:Myh10'

324764

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

041646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68582385-68707458 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 68642766 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

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	T	C	1: 154,369,071 (GRCm39)	Y322C	probably damaging	Het
Camsap2	A	G	1: 136,198,614 (GRCm39)	V1462A	probably benign	Het
D3Ertd751e	C	A	3: 41,710,589 (GRCm39)		probably benign	Het
Dhcr7	C	T	7: 143,396,964 (GRCm39)	A152V	probably damaging	Het
Enpep	A	T	3: 129,125,927 (GRCm39)	N68K	probably benign	Het
Fam131b	G	A	6: 42,298,241 (GRCm39)	L43F	probably damaging	Het
Fbxl5	T	A	5: 43,920,114 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hycc2	T	C	1: 58,569,092 (GRCm39)	T440A	probably benign	Het
Igf2	T	C	7: 142,209,523 (GRCm39)	M46V	probably benign	Het
Kntc1	T	A	5: 123,905,842 (GRCm39)	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,343,198 (GRCm39)	W647R	probably damaging	Het
Mettl21c	C	T	1: 44,049,716 (GRCm39)	V110I	probably damaging	Het
Mrgprh	T	C	17: 13,096,114 (GRCm39)	L118P	probably damaging	Het
Myadm	A	G	7: 3,345,618 (GRCm39)	T127A	probably benign	Het
Nadk	T	A	4: 155,668,712 (GRCm39)	Y128N	probably benign	Het
Or5g27	T	C	2: 85,410,207 (GRCm39)	V208A	probably benign	Het
Or8k39	T	C	2: 86,563,936 (GRCm39)	T7A	probably damaging	Het
Papolg	A	G	11: 23,818,378 (GRCm39)	I500T	probably benign	Het
Pkhd1	A	T	1: 20,128,608 (GRCm39)	C4032S	probably benign	Het
Rnase1	A	T	14: 51,383,327 (GRCm39)	L9Q	probably damaging	Het
Rspry1	G	T	8: 95,376,389 (GRCm39)	V304L	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Scpep1	T	C	11: 88,837,968 (GRCm39)		probably null	Het
Serpina3m	T	A	12: 104,355,375 (GRCm39)	I14N	probably damaging	Het
Smg6	A	C	11: 74,884,700 (GRCm39)		probably benign	Het
Suz12	T	C	11: 79,920,879 (GRCm39)	M593T	probably damaging	Het
Tmem139	A	G	6: 42,241,039 (GRCm39)	E208G	probably damaging	Het
Tnxb	A	G	17: 34,917,205 (GRCm39)	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,375,893 (GRCm39)	V911G	probably damaging	Het
Vipr1	T	C	9: 121,493,684 (GRCm39)	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,448,902 (GRCm39)	I92F	probably damaging	Het
Zbtb47	T	A	9: 121,595,605 (GRCm39)	V576D	probably damaging	Het
Zfp518b	A	G	5: 38,829,071 (GRCm39)	V978A	probably damaging	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
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'- GAACCCATTGTCACAGCAGG -3'
(R):5'- TGTGGCTACCAGAAGTATCATTACATC -3'

Sequencing Primer
(F):5'- CCATTGTCACAGCAGGCATAGG -3'
(R):5'- CCAAGCTTTTGGGCTTTTC -3'

Posted On

2015-06-24