Mutagenetix > Incidental Mutation

Incidental Mutation 'R8674:Myh10'

661310

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

068529-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68582385-68707458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68705257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1925 (E1925G)

Ref Sequence

ENSEMBL: ENSMUSP00000090661 (fasta)

Gene Model

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

AlphaFold

Q61879

Predicted Effect

probably damaging
Transcript: ENSMUST00000018887
AA Change: E1919G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: E1919G

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 damaging
Transcript: ENSMUST00000092984
AA Change: E1925G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: E1925G

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: E1888G

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: E1888G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (38/38)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,956,696 (GRCm39)	I165V	probably benign	Het
Adgrg1	A	T	8: 95,727,526 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,983,360 (GRCm39)	I1548T	probably damaging	Het
Alox12b	A	G	11: 69,054,801 (GRCm39)	Y268C	possibly damaging	Het
Chd8	T	C	14: 52,450,463 (GRCm39)	D1465G	probably damaging	Het
Csgalnact1	A	G	8: 68,826,268 (GRCm39)	V350A	possibly damaging	Het
Cyp4a29	A	T	4: 115,106,882 (GRCm39)	I180F	probably benign	Het
Dcaf1	T	A	9: 106,740,896 (GRCm39)	D1294E	probably damaging	Het
Defb47	T	C	14: 63,235,579 (GRCm39)	L10P	possibly damaging	Het
Gpr179	T	C	11: 97,225,873 (GRCm39)	E2094G	probably benign	Het
Gtse1	C	A	15: 85,746,376 (GRCm39)	P64Q	probably damaging	Het
Gys2	A	G	6: 142,376,048 (GRCm39)	V538A	probably benign	Het
Hmgxb3	G	A	18: 61,269,303 (GRCm39)	S993L	probably benign	Het
Lgals8	A	T	13: 12,462,117 (GRCm39)	F238I	probably damaging	Het
Ltn1	A	C	16: 87,195,673 (GRCm39)	D1284E	probably benign	Het
Nck1	T	C	9: 100,390,580 (GRCm39)	N43S	probably damaging	Het
Nsun5	C	A	5: 135,400,394 (GRCm39)	T145N	probably damaging	Het
Or10d1	T	C	9: 39,484,249 (GRCm39)	Y102C	probably damaging	Het
Or10d3	A	G	9: 39,461,675 (GRCm39)	F164S	probably damaging	Het
Or10x4	A	G	1: 174,219,258 (GRCm39)	T208A	probably damaging	Het
Or4c103	T	A	2: 88,513,774 (GRCm39)	T101S	probably benign	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Ppp4r4	A	G	12: 103,562,720 (GRCm39)	E563G	probably damaging	Het
Pramel42	T	C	5: 94,685,605 (GRCm39)	C422R	probably damaging	Het
Rab11fip5	T	A	6: 85,318,910 (GRCm39)	M660L	probably benign	Het
Rbm47	T	A	5: 66,176,742 (GRCm39)	N527I	possibly damaging	Het
Rpl12	T	A	2: 32,852,122 (GRCm39)		probably benign	Het
Slc22a14	C	A	9: 119,007,467 (GRCm39)	W314L	probably null	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Sphkap	A	G	1: 83,255,565 (GRCm39)	V728A	probably benign	Het
Spint4	T	A	2: 164,542,902 (GRCm39)		probably null	Het
Sptbn1	A	G	11: 30,089,352 (GRCm39)	S637P	possibly damaging	Het
Trpm7	T	C	2: 126,641,086 (GRCm39)		probably benign	Het
Trrap	C	T	5: 144,727,842 (GRCm39)	T521I	probably benign	Het
Vmn2r44	T	C	7: 8,380,822 (GRCm39)	Y357C	probably damaging	Het
Vwa2	A	G	19: 56,875,427 (GRCm39)	D82G	possibly damaging	Het
Zdhhc17	A	G	10: 110,785,540 (GRCm39)	I424T	probably benign	Het
Zmiz1	A	G	14: 25,647,410 (GRCm39)	I409M	probably benign	Het
Zscan18	T	C	7: 12,504,827 (GRCm39)		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
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
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'- CAGGAAAGGCAGTTTTGAGTTTC -3'
(R):5'- TTCCACAGATGAAGCCTGCC -3'

Sequencing Primer
(F):5'- GCTTGCTCTGTAAATACTGGC -3'
(R):5'- AGATGAAGCCTGCCAGCTCTC -3'

Posted On

2021-03-08