Mutagenetix > Incidental Mutation

Incidental Mutation 'R9333:Myh10'

711173

Institutional Source

Beutler Lab

Gene Symbol

Myh10

Ensembl Gene

ENSMUSG00000020900

Gene Name

myosin, heavy polypeptide 10, non-muscle

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9333 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68691559-68816632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 68790154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 1007 (Q1007P)

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: Q1001P

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: Q1001P

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: Q1007P

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: Q1007P

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: Q970P

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: Q970P

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: 99.9%
10x: 99.7%
20x: 99.2%

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
4933427I04Rik	G	T	4: 123,860,623	G110V	probably benign	Het
Abraxas1	T	C	5: 100,812,073	S138G	probably damaging	Het
Aldoart1	C	T	4: 72,852,130	R147H	probably benign	Het
Arfgef1	C	A	1: 10,151,812	E1556*	probably null	Het
Arhgap39	C	T	15: 76,735,125	R753H	probably damaging	Het
Asb2	G	A	12: 103,345,696	Q56*	probably null	Het
Atp8b3	T	C	10: 80,524,346	I964V	probably benign	Het
Baiap3	C	A	17: 25,248,702	R338L	possibly damaging	Het
Clcn4	T	A	7: 7,289,193	M540L	probably damaging	Het
Crbn	T	C	6: 106,800,023	H12R	probably benign	Het
D6Wsu163e	A	G	6: 126,975,133	Y530C	probably damaging	Het
Dolpp1	T	A	2: 30,397,128	F191I	probably damaging	Het
Fam217a	T	C	13: 34,916,893	T94A	probably benign	Het
Fanci	T	C	7: 79,417,846	W347R	possibly damaging	Het
Fbxo39	A	T	11: 72,317,523	N234Y	probably damaging	Het
Fbxo4	A	G	15: 3,969,020	S319P	probably benign	Het
Gm14403	A	G	2: 177,509,126	N46S	probably benign	Het
Grm2	C	A	9: 106,648,217	R433L	possibly damaging	Het
Gtf2i	C	T	5: 134,242,986	D855N	probably benign	Het
Hcn2	T	A	10: 79,726,157	M329K	possibly damaging	Het
Hsd3b3	T	C	3: 98,741,900	D369G	probably benign	Het
Kctd12	T	C	14: 102,981,618	K275E	probably damaging	Het
Klra4	T	A	6: 130,044,117	K238N	probably damaging	Het
Kremen2	T	A	17: 23,743,801	T104S	probably damaging	Het
Lmf2	G	A	15: 89,355,374	L26F	probably damaging	Het
Mageb3	A	T	2: 121,954,492	V243E	probably damaging	Het
Mfsd10	A	G	5: 34,635,083	V258A	probably damaging	Het
Ndufaf5	A	G	2: 140,193,593	E243G	probably benign	Het
Olfr698	T	C	7: 106,752,575	D271G	probably damaging	Het
Orm3	T	C	4: 63,356,291	I31T	probably damaging	Het
Pgm1	C	A	5: 64,105,757	T249K	probably benign	Het
Prcp	T	C	7: 92,928,686	Y388H	probably damaging	Het
Prmt3	T	G	7: 49,806,560	I306M	probably damaging	Het
Rag2	A	T	2: 101,630,407	D354V	probably benign	Het
Reep1	A	G	6: 71,795,214	D162G	probably damaging	Het
Rnpep	A	T	1: 135,264,124	W575R	probably damaging	Het
Rpl28	T	C	7: 4,793,080		probably benign	Het
Ryr1	A	C	7: 29,074,789		probably null	Het
Spg11	G	A	2: 122,101,763	R533C	probably damaging	Het
Tcf7l2	C	A	19: 55,931,496	S487*	probably null	Het
Usp39	T	C	6: 72,337,727	N232S	probably benign	Het
Vmn2r26	C	T	6: 124,026,050	P140S	probably benign	Het
Vmn2r34	C	T	7: 7,672,368	V674I	probably benign	Het

Other mutations in Myh10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myh10	APN	11	68790708	missense	probably benign	0.10
IGL01132:Myh10	APN	11	68768268	missense	possibly damaging	0.93
IGL01348:Myh10	APN	11	68811803	missense	probably benign	0.04
IGL01404:Myh10	APN	11	68752040	splice site	probably null
IGL01409:Myh10	APN	11	68807219	missense	probably damaging	0.98
IGL01660:Myh10	APN	11	68785889	missense	probably benign	0.00
IGL02111:Myh10	APN	11	68790112	missense	probably damaging	1.00
IGL02481:Myh10	APN	11	68802168	missense	probably benign	0.00
IGL02483:Myh10	APN	11	68802168	missense	probably benign	0.00
IGL02502:Myh10	APN	11	68814372	splice site	probably null
IGL03178:Myh10	APN	11	68699413	missense	probably benign	0.19
algia	UTSW	11	68802931	missense	probably damaging	1.00
itis	UTSW	11	68764245	missense	probably damaging	0.96
PIT4802001:Myh10	UTSW	11	68765092	missense	probably damaging	1.00
R0066:Myh10	UTSW	11	68699491	missense	probably damaging	1.00
R0066:Myh10	UTSW	11	68699491	missense	probably damaging	1.00
R0517:Myh10	UTSW	11	68811599	critical splice acceptor site	probably null
R0855:Myh10	UTSW	11	68811801	missense	possibly damaging	0.88
R1110:Myh10	UTSW	11	68791850	splice site	probably benign
R1135:Myh10	UTSW	11	68807197	missense	probably benign
R1169:Myh10	UTSW	11	68762841	missense	probably damaging	0.99
R1643:Myh10	UTSW	11	68792010	missense	probably damaging	0.96
R1733:Myh10	UTSW	11	68802296	missense	probably benign	0.06
R1754:Myh10	UTSW	11	68813058	missense	probably damaging	0.98
R1859:Myh10	UTSW	11	68745413	missense	probably benign	0.03
R1898:Myh10	UTSW	11	68771906	missense	probably damaging	1.00
R1905:Myh10	UTSW	11	68771868	splice site	probably benign
R1914:Myh10	UTSW	11	68790208	missense	probably damaging	0.99
R1915:Myh10	UTSW	11	68790208	missense	probably damaging	0.99
R1987:Myh10	UTSW	11	68814496	missense	possibly damaging	0.56
R2130:Myh10	UTSW	11	68807289	splice site	probably benign
R2132:Myh10	UTSW	11	68807289	splice site	probably benign
R2136:Myh10	UTSW	11	68804714	missense	probably damaging	1.00
R2214:Myh10	UTSW	11	68783127	missense	probably damaging	1.00
R2351:Myh10	UTSW	11	68793139	missense	probably damaging	1.00
R3407:Myh10	UTSW	11	68790211	missense	possibly damaging	0.68
R3721:Myh10	UTSW	11	68813052	missense	probably damaging	0.99
R3908:Myh10	UTSW	11	68771059	critical splice donor site	probably null
R4275:Myh10	UTSW	11	68751940	critical splice acceptor site	probably null
R4526:Myh10	UTSW	11	68815049	missense	probably benign	0.04
R4666:Myh10	UTSW	11	68801730	critical splice donor site	probably null
R4668:Myh10	UTSW	11	68804642	missense	probably damaging	1.00
R4750:Myh10	UTSW	11	68785314	missense	probably damaging	1.00
R4968:Myh10	UTSW	11	68793223	missense	probably damaging	1.00
R4977:Myh10	UTSW	11	68798371	missense	possibly damaging	0.55
R5201:Myh10	UTSW	11	68783195	missense	probably damaging	1.00
R5288:Myh10	UTSW	11	68801608	missense	probably damaging	1.00
R5304:Myh10	UTSW	11	68764245	missense	probably damaging	0.96
R5366:Myh10	UTSW	11	68760692	missense	probably damaging	0.97
R5384:Myh10	UTSW	11	68801608	missense	probably damaging	1.00
R5427:Myh10	UTSW	11	68802931	missense	probably damaging	1.00
R5546:Myh10	UTSW	11	68798380	missense	possibly damaging	0.90
R5551:Myh10	UTSW	11	68768287	missense	possibly damaging	0.65
R5777:Myh10	UTSW	11	68785859	missense	probably damaging	1.00
R5995:Myh10	UTSW	11	68814983	missense	probably benign	0.01
R6021:Myh10	UTSW	11	68808862	missense	possibly damaging	0.72
R6171:Myh10	UTSW	11	68791890	missense	probably damaging	1.00
R6179:Myh10	UTSW	11	68802153	missense	probably damaging	0.98
R6263:Myh10	UTSW	11	68810232	missense	probably damaging	0.98
R6264:Myh10	UTSW	11	68745415	missense	probably benign	0.01
R6484:Myh10	UTSW	11	68699467	missense	probably damaging	1.00
R6575:Myh10	UTSW	11	68808850	missense	probably benign	0.00
R6736:Myh10	UTSW	11	68745339	missense	probably damaging	1.00
R7141:Myh10	UTSW	11	68802139	missense	probably benign
R7256:Myh10	UTSW	11	68790689	missense	probably damaging	1.00
R7329:Myh10	UTSW	11	68810191	missense	probably benign	0.44
R7363:Myh10	UTSW	11	68815048	missense	probably benign
R7576:Myh10	UTSW	11	68802166	missense	probably damaging	1.00
R7577:Myh10	UTSW	11	68745980	missense	unknown
R7681:Myh10	UTSW	11	68771936	missense	probably damaging	0.98
R7813:Myh10	UTSW	11	68785909	missense	probably benign	0.00
R7834:Myh10	UTSW	11	68785826	missense	probably damaging	1.00
R7922:Myh10	UTSW	11	68808893	missense	possibly damaging	0.56
R7938:Myh10	UTSW	11	68692501	missense	unknown
R7958:Myh10	UTSW	11	68721347	missense	probably benign	0.00
R7994:Myh10	UTSW	11	68790244	critical splice donor site	probably null
R8395:Myh10	UTSW	11	68792016	missense	probably damaging	0.98
R8523:Myh10	UTSW	11	68797409	missense	probably benign	0.01
R8674:Myh10	UTSW	11	68814431	missense	probably damaging	0.98
R8816:Myh10	UTSW	11	68802952	missense	probably damaging	0.97
R8912:Myh10	UTSW	11	68790103	critical splice acceptor site	probably null
R9057:Myh10	UTSW	11	68765185	missense	possibly damaging	0.82
R9586:Myh10	UTSW	11	68812994	missense	possibly damaging	0.56
R9617:Myh10	UTSW	11	68791989	missense	probably benign	0.21
X0028:Myh10	UTSW	11	68793135	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGCCATGTTGGACTGAC -3'
(R):5'- GTAGAGCCTGTCTTTAGAACTCC -3'

Sequencing Primer
(F):5'- CCATGTTGGACTGACCCAATTTAAAC -3'
(R):5'- AGAGCCTGTCTTTAGAACTCCTTTAC -3'

Posted On

2022-05-16