Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Myh10'

199502

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

039765-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68691559-68816632 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68802296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1472 (D1472E)

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: D1466E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: D1466E

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: D1472E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: D1472E

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: D1435E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: D1435E

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

Meta Mutation Damage Score

0.1191

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	G	18: 59,031,929	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,810,745	K737N	probably damaging	Het
Aqp9	T	A	9: 71,112,342	I279F	possibly damaging	Het
Aspm	T	A	1: 139,457,117	N166K	probably benign	Het
Atp13a3	A	T	16: 30,357,266	I186N	probably benign	Het
Btaf1	A	T	19: 36,994,962	I1366L	probably benign	Het
Camk4	A	C	18: 33,078,021	K60Q	possibly damaging	Het
Card11	G	T	5: 140,906,633	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,293,658	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,407,032	R462Q	possibly damaging	Het
Cp	A	T	3: 19,968,219		probably benign	Het
Cpz	A	T	5: 35,517,758	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,810,116	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,934,762	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,623,784	T127I	probably benign	Het
Daam2	T	A	17: 49,490,203	M185L	possibly damaging	Het
Dnaja3	G	A	16: 4,684,165	R11K	probably null	Het
Dnttip2	T	A	3: 122,276,748	S537R	probably benign	Het
Dock9	G	T	14: 121,626,880	H572Q	probably benign	Het
Dpp4	T	A	2: 62,372,869		probably null	Het
Enc1	T	G	13: 97,245,042	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,619,720	H900Q	probably benign	Het
Ercc3	T	C	18: 32,267,165	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 21,963,369	Q247*	probably null	Het
Fkbp10	G	A	11: 100,423,931	R423H	probably benign	Het
Fus	A	G	7: 127,981,545	M265V	probably benign	Het
Gas2l3	T	A	10: 89,414,265	K330N	probably damaging	Het
Gpam	T	G	19: 55,081,469	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,161,535	V264E	possibly damaging	Het
Grk6	A	T	13: 55,453,166		probably benign	Het
Gsto1	G	T	19: 47,855,235	V19F	probably damaging	Het
H1fnt	G	T	15: 98,256,135	Q378K	unknown	Het
Hgfac	G	A	5: 35,043,674	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,157,931	N1216D	probably damaging	Het
Hrg	C	T	16: 22,951,247	A42V	probably damaging	Het
Irx4	A	G	13: 73,266,705	D136G	probably benign	Het
Kcnn3	G	T	3: 89,652,090	V556L	probably benign	Het
Klk8	T	C	7: 43,802,121	Y179H	possibly damaging	Het
Klrb1f	T	A	6: 129,054,359	L173*	probably null	Het
Kremen2	A	T	17: 23,743,399		probably null	Het
Krt25	A	T	11: 99,316,552	Y400*	probably null	Het
Lingo4	A	T	3: 94,403,178	R474S	probably benign	Het
Lnpep	T	C	17: 17,553,313	K599E	probably benign	Het
Mapk8ip3	A	T	17: 24,936,850	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,680,077	S307T	probably benign	Het
Mcph1	C	A	8: 18,631,963	A372D	probably benign	Het
Mfsd6	T	A	1: 52,709,365	I114F	probably damaging	Het
Mlkl	A	G	8: 111,322,748	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,977,101	T789S	probably benign	Het
Mphosph8	A	G	14: 56,693,459	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,257,099	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,792,712	H180R	probably damaging	Het
Msh4	T	C	3: 153,867,767	D556G	probably damaging	Het
Myo16	T	C	8: 10,442,283	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,583,053		noncoding transcript	Het
Nrp1	C	T	8: 128,468,493	P477S	probably benign	Het
Olfr1278	T	C	2: 111,292,865	V199A	probably damaging	Het
Olfr1307	T	A	2: 111,945,280	M59L	probably benign	Het
Olfr64	T	C	7: 103,892,911	S275G	probably benign	Het
Olfr936	G	T	9: 39,047,382	H57N	unknown	Het
Oplah	G	T	15: 76,302,483	C665*	probably null	Het
Otogl	T	C	10: 107,783,712	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,401,974	I242V	probably benign	Het
Phgdh	G	A	3: 98,328,135	T141I	probably benign	Het
Pigv	T	C	4: 133,664,926	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,418,520	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,109,960	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,191,968		probably benign	Het
Ptpn4	T	C	1: 119,716,043		probably null	Het
Rin3	T	A	12: 102,369,330	L420*	probably null	Het
Sacs	T	G	14: 61,205,454	F1650V	probably damaging	Het
Sbno2	T	A	10: 80,058,508	N1081Y	possibly damaging	Het
Sema5b	C	T	16: 35,646,367	P213L	probably damaging	Het
Sharpin	T	C	15: 76,347,936	K240R	probably benign	Het
Skint6	T	A	4: 113,177,037		probably benign	Het
Slc4a2	A	G	5: 24,429,567	E68G	probably damaging	Het
Srcin1	C	T	11: 97,533,501	V634I	probably benign	Het
Srsf10	T	A	4: 135,863,165	F134I	possibly damaging	Het
Stab1	C	A	14: 31,145,303	G1700V	probably damaging	Het
Sun1	T	G	5: 139,230,789	C290W	possibly damaging	Het
Svs6	T	A	2: 164,317,657		probably benign	Het
Tmem8b	G	A	4: 43,690,228		probably null	Het
Usp49	A	G	17: 47,672,313	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,076,678	V296D	probably benign	Het
Vmn1r6	T	A	6: 57,002,622	S90T	probably damaging	Het
Wbp2	A	G	11: 116,083,883	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,227,281	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,641,378	A552V	probably benign	Het
Zfp607b	A	T	7: 27,692,524	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,375,849	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,453,557	Y46H	probably damaging	Het
Zic2	G	A	14: 122,478,947	E432K	probably damaging	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
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
R9333:Myh10	UTSW	11	68790154	missense	probably benign	0.12
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'- GACGAGTTGTTATCTGACCCTTGCC -3'
(R):5'- GAGACATTGTCAAGCCCGAGACTG -3'

Sequencing Primer
(F):5'- GCTGGCTGACACCAAGAAG -3'
(R):5'- GACTGCTCGTCCTAAGAACTCTG -3'

Posted On

2014-05-23