Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Myh14'

207886

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

NMHC II-C, 2400004E04Rik

MMRRC Submission

039873-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44605803-44670843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44632429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 810 (I810F)

Ref Sequence

ENSEMBL: ENSMUSP00000103532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775]

AlphaFold

Q6URW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048102
AA Change: I810F

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: I810F

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	805	N/A	SMART
IQ	806	828	3.91e-4	SMART
Blast:MYSc	839	872	1e-12	BLAST
low complexity region	880	891	N/A	INTRINSIC
low complexity region	926	937	N/A	INTRINSIC
low complexity region	1005	1013	N/A	INTRINSIC
low complexity region	1021	1029	N/A	INTRINSIC
low complexity region	1030	1041	N/A	INTRINSIC
Pfam:Myosin_tail_1	1094	1951	9.3e-180	PFAM
low complexity region	1955	1966	N/A	INTRINSIC
low complexity region	1968	1997	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107899
AA Change: I802F

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: I802F

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	797	N/A	SMART
IQ	798	820	3.91e-4	SMART
Blast:MYSc	831	864	1e-12	BLAST
low complexity region	872	883	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	997	1005	N/A	INTRINSIC
low complexity region	1013	1021	N/A	INTRINSIC
low complexity region	1022	1033	N/A	INTRINSIC
Pfam:Myosin_tail_1	1086	1943	9e-180	PFAM
low complexity region	1947	1958	N/A	INTRINSIC
low complexity region	1960	1989	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107900
AA Change: I810F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: I810F

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	805	N/A	SMART
IQ	806	828	3.91e-4	SMART
Pfam:Myosin_tail_1	869	1949	N/A	PFAM
low complexity region	1955	1966	N/A	INTRINSIC
low complexity region	1968	1997	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207775
AA Change: I843F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208085

Predicted Effect

unknown
Transcript: ENSMUST00000208200
AA Change: I488F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209024

Meta Mutation Damage Score

0.0838

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are healthy and survive to adulthood with no apparent defects. About 30% of knock-in mice either heterozygous or homozygous for a single amino acid mutation exhibit increased lymphoma incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 87,568,493	Y86*	probably null	Het
Aadac	A	G	3: 60,039,697	E272G	probably damaging	Het
Abcc8	A	T	7: 46,166,902	D271E	probably benign	Het
Acan	T	C	7: 79,099,035	F1185L	probably benign	Het
Adam1a	A	T	5: 121,519,620	C537S	probably damaging	Het
Ago2	A	G	15: 73,123,965	V395A	probably benign	Het
Alox15	A	G	11: 70,350,752	V101A	probably damaging	Het
Ankra2	T	C	13: 98,271,124	I194T	probably damaging	Het
Apobec4	C	A	1: 152,756,230	P3H	probably damaging	Het
Arid3b	G	T	9: 57,796,677	Y329*	probably null	Het
Atm	A	T	9: 53,468,012	S1993T	probably benign	Het
Bpgm	T	G	6: 34,487,734	S129A	probably benign	Het
Brat1	A	G	5: 140,718,509	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,342,570	S128T	probably benign	Het
Cd300lg	A	T	11: 102,046,206		probably benign	Het
Cdc34b	C	A	11: 94,742,477	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,401,310	V1767E	probably benign	Het
Cep350	T	C	1: 155,953,651	D169G	probably benign	Het
Col7a1	A	T	9: 108,969,565	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,630,434	L724P	probably damaging	Het
Crb1	T	A	1: 139,237,012	I1125F	probably damaging	Het
Ctif	T	A	18: 75,519,941	D415V	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dhrs2	A	G	14: 55,240,841	D237G	probably benign	Het
Dhx9	T	C	1: 153,465,753	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,219,713	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,505,681	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,906,615	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,066,107	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166	T3245S	probably benign	Het
Ect2l	A	G	10: 18,200,033	L35P	probably damaging	Het
Efcab5	A	T	11: 77,103,306	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,681,867	R697P	probably damaging	Het
Emsy	T	A	7: 98,600,821	E753V	probably damaging	Het
Entpd3	A	G	9: 120,558,419	I227M	probably damaging	Het
Epn1	T	A	7: 5,089,998	V103E	probably damaging	Het
Esrra	T	C	19: 6,912,010	D337G	probably benign	Het
Fam129c	T	C	8: 71,603,769	M371T	possibly damaging	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fat2	A	G	11: 55,311,558	I230T	probably damaging	Het
Fbxl16	A	G	17: 25,816,446	I6V	probably benign	Het
Fgf23	T	C	6: 127,073,193	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,821,549	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823	E449G	probably benign	Het
Gbf1	T	G	19: 46,272,037	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,341,265	E157G	probably damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm6625	A	C	8: 89,146,834		noncoding transcript	Het
Gpx4	A	G	10: 80,056,036		probably benign	Het
Grb10	A	G	11: 11,946,029	F264L	possibly damaging	Het
Grik3	T	C	4: 125,694,138	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,036,795		probably benign	Het
Haus8	G	A	8: 71,256,123		probably benign	Het
Hip1	G	A	5: 135,435,141		probably null	Het
Hist3h2ba	A	T	11: 58,949,102	I55F	possibly damaging	Het
Hspbap1	T	A	16: 35,818,764		probably null	Het
Htr2b	T	A	1: 86,099,429	I452F	possibly damaging	Het
Hydin	T	A	8: 110,569,808	H3656Q	probably benign	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Lamb3	A	T	1: 193,334,616	T777S	possibly damaging	Het
Lins1	C	A	7: 66,714,322	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,281,971	K5R	possibly damaging	Het
Lpp	G	A	16: 24,761,655	M40I	probably damaging	Het
Mia2	A	T	12: 59,170,251		probably benign	Het
Miip	A	C	4: 147,863,092	F204V	probably damaging	Het
Mmp21	T	C	7: 133,677,153	R323G	probably benign	Het
Mta3	T	A	17: 83,755,551		probably benign	Het
Myh1	A	G	11: 67,213,630	K1004R	probably benign	Het
Nbas	A	C	12: 13,413,597	D1295A	probably damaging	Het
Npr2	T	G	4: 43,632,384	V67G	probably benign	Het
Oas1f	C	A	5: 120,855,429	Q235K	probably damaging	Het
Olfr109	T	A	17: 37,467,047	S280R	probably damaging	Het
Olfr59	G	T	11: 74,289,213	C189F	probably damaging	Het
Olfr60	T	A	7: 140,345,987	M1L	probably benign	Het
Olfr629	T	C	7: 103,741,174	N22S	probably benign	Het
Olfr857	C	T	9: 19,713,090	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Pde1b	A	G	15: 103,525,340		probably null	Het
Pdilt	T	C	7: 119,489,384	T465A	probably benign	Het
Plxnd1	T	C	6: 115,966,546	H1233R	probably damaging	Het
Ppm1b	T	A	17: 84,994,124	M144K	probably benign	Het
Prkdc	T	C	16: 15,808,058	L3316S	probably benign	Het
Prm2	T	A	16: 10,791,591		probably benign	Het
Prmt7	T	C	8: 106,237,008	V240A	probably benign	Het
Prx	C	A	7: 27,518,888	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,490,894	V131A	probably benign	Het
Ric1	T	A	19: 29,600,813		probably null	Het
Rnf150	A	T	8: 82,864,010	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628	R298W	probably damaging	Het
Rp1	T	A	1: 4,347,232	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,684,013		probably null	Het
Sdad1	A	G	5: 92,292,651		probably null	Het
Sept9	T	C	11: 117,353,083		probably benign	Het
Serinc3	T	C	2: 163,645,489		probably benign	Het
Shc3	C	T	13: 51,461,388	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,316,606	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,923,111	I376V	probably benign	Het
Slmap	A	T	14: 26,422,574	F719L	probably benign	Het
Smgc	A	G	15: 91,859,758	N573D	possibly damaging	Het
Spx	G	A	6: 142,414,079		probably null	Het
Srrt	C	G	5: 137,296,945	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,630,597	R78S	probably benign	Het
Tchhl1	A	G	3: 93,471,101	R371G	probably damaging	Het
Teddm2	C	T	1: 153,850,448	A174T	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Trim33	T	C	3: 103,324,640		probably benign	Het
Tspan31	A	G	10: 127,069,458	V40A	probably damaging	Het
Uevld	A	G	7: 46,945,227		probably benign	Het
Vcl	G	T	14: 21,008,995	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,816,224	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,428,107	V212M	probably damaging	Het
Vps13c	A	G	9: 67,936,340	T1968A	probably benign	Het
Vtn	A	G	11: 78,500,567	R269G	probably damaging	Het
Wdcp	G	A	12: 4,850,245	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,752,832	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266	P123L	probably benign	Het
Zfp318	T	C	17: 46,406,055	S1038P	possibly damaging	Het
Zfp873	A	G	10: 82,060,572	D416G	probably benign	Het

Other mutations in Myh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Myh14	APN	7	44606292	unclassified	probably benign
IGL01431:Myh14	APN	7	44614358	missense	probably null	0.00
IGL01722:Myh14	APN	7	44643532	missense	probably damaging	1.00
IGL01806:Myh14	APN	7	44657939	missense	probably benign	0.19
IGL02034:Myh14	APN	7	44616293	missense	possibly damaging	0.58
IGL02260:Myh14	APN	7	44611571	missense	probably damaging	1.00
IGL02590:Myh14	APN	7	44624079	missense	probably damaging	1.00
IGL02696:Myh14	APN	7	44665106	missense	probably damaging	1.00
IGL02705:Myh14	APN	7	44608536	missense	possibly damaging	0.66
IGL03193:Myh14	APN	7	44629945	missense	possibly damaging	0.91
PIT4581001:Myh14	UTSW	7	44613482	missense	probably benign	0.04
R0067:Myh14	UTSW	7	44623127	missense	probably benign	0.05
R0083:Myh14	UTSW	7	44634519	missense	probably damaging	0.98
R0108:Myh14	UTSW	7	44634519	missense	probably damaging	0.98
R0152:Myh14	UTSW	7	44623181	missense	probably damaging	1.00
R0369:Myh14	UTSW	7	44660950	missense	probably damaging	1.00
R0552:Myh14	UTSW	7	44613681	missense	probably damaging	1.00
R0699:Myh14	UTSW	7	44624971	missense	possibly damaging	0.67
R0763:Myh14	UTSW	7	44665367	missense	probably damaging	0.98
R1079:Myh14	UTSW	7	44630002	missense	probably damaging	1.00
R1388:Myh14	UTSW	7	44665122	missense	probably damaging	0.98
R1432:Myh14	UTSW	7	44616299	missense	probably damaging	1.00
R1568:Myh14	UTSW	7	44611698	nonsense	probably null
R1579:Myh14	UTSW	7	44655694	splice site	probably null
R1598:Myh14	UTSW	7	44638394	missense	probably damaging	0.96
R1869:Myh14	UTSW	7	44611643	missense	possibly damaging	0.95
R1917:Myh14	UTSW	7	44657925	missense	probably benign
R1933:Myh14	UTSW	7	44615348	missense	probably benign	0.09
R1984:Myh14	UTSW	7	44639022	missense	probably damaging	1.00
R2154:Myh14	UTSW	7	44652429	critical splice donor site	probably null
R2190:Myh14	UTSW	7	44661063	missense	probably damaging	1.00
R2217:Myh14	UTSW	7	44634376	missense	probably damaging	1.00
R2239:Myh14	UTSW	7	44665183	missense	probably damaging	1.00
R2918:Myh14	UTSW	7	44616263	missense	possibly damaging	0.91
R4091:Myh14	UTSW	7	44632991	missense	possibly damaging	0.93
R4110:Myh14	UTSW	7	44628550	missense	probably benign	0.00
R4199:Myh14	UTSW	7	44615503	nonsense	probably null
R4507:Myh14	UTSW	7	44629991	missense	probably benign	0.00
R4539:Myh14	UTSW	7	44627054	missense	probably damaging	1.00
R4550:Myh14	UTSW	7	44634433	missense	probably damaging	1.00
R4673:Myh14	UTSW	7	44624330	missense	probably damaging	1.00
R4768:Myh14	UTSW	7	44613675	missense	probably benign	0.19
R4832:Myh14	UTSW	7	44625142	missense	probably benign	0.31
R4853:Myh14	UTSW	7	44608448	missense	probably damaging	1.00
R4901:Myh14	UTSW	7	44661040	missense	probably damaging	1.00
R4928:Myh14	UTSW	7	44635502	missense	probably benign	0.00
R5070:Myh14	UTSW	7	44616248	missense	possibly damaging	0.91
R5166:Myh14	UTSW	7	44628855	missense	probably damaging	0.99
R5726:Myh14	UTSW	7	44643462	critical splice donor site	probably null
R5786:Myh14	UTSW	7	44613463	missense	probably benign	0.23
R5895:Myh14	UTSW	7	44606709	missense	probably damaging	1.00
R5961:Myh14	UTSW	7	44623094	missense	probably damaging	0.96
R6014:Myh14	UTSW	7	44625078	missense	probably null
R6080:Myh14	UTSW	7	44655611	missense	probably damaging	1.00
R6187:Myh14	UTSW	7	44627033	missense	probably damaging	1.00
R6657:Myh14	UTSW	7	44637846	missense	probably damaging	1.00
R6833:Myh14	UTSW	7	44624379	nonsense	probably null
R6894:Myh14	UTSW	7	44633512	missense	probably damaging	1.00
R6916:Myh14	UTSW	7	44629313	missense	probably damaging	0.96
R6962:Myh14	UTSW	7	44657939	missense	probably benign	0.36
R7066:Myh14	UTSW	7	44630755	missense	possibly damaging	0.69
R7261:Myh14	UTSW	7	44624337	nonsense	probably null
R7303:Myh14	UTSW	7	44611701	missense	probably damaging	1.00
R7304:Myh14	UTSW	7	44629991	missense	probably benign	0.00
R7327:Myh14	UTSW	7	44611553	missense	possibly damaging	0.53
R7380:Myh14	UTSW	7	44661042	missense	probably damaging	1.00
R7570:Myh14	UTSW	7	44632426	missense	probably benign	0.37
R7622:Myh14	UTSW	7	44632422	missense	probably benign	0.25
R7681:Myh14	UTSW	7	44624148	missense	possibly damaging	0.81
R7718:Myh14	UTSW	7	44661040	missense	probably damaging	1.00
R7910:Myh14	UTSW	7	44632395	missense	probably damaging	1.00
R8054:Myh14	UTSW	7	44625127	missense	probably damaging	0.97
R8088:Myh14	UTSW	7	44665496	start codon destroyed	probably null	0.94
R8164:Myh14	UTSW	7	44625033	missense	probably benign	0.01
R8260:Myh14	UTSW	7	44615376	missense	probably damaging	1.00
R8299:Myh14	UTSW	7	44627048	missense	probably damaging	1.00
R8410:Myh14	UTSW	7	44633483	missense	probably damaging	1.00
R8723:Myh14	UTSW	7	44622983	missense	probably damaging	1.00
R8853:Myh14	UTSW	7	44616254	missense	probably benign	0.08
R8934:Myh14	UTSW	7	44657428	missense	probably benign
R9169:Myh14	UTSW	7	44621857	missense	possibly damaging	0.73
R9395:Myh14	UTSW	7	44625160	missense	possibly damaging	0.66
R9451:Myh14	UTSW	7	44624319	critical splice donor site	probably null
X0026:Myh14	UTSW	7	44614394	missense	probably benign	0.00
X0063:Myh14	UTSW	7	44624133	missense	probably damaging	1.00
Z1176:Myh14	UTSW	7	44608515	missense	probably damaging	1.00
Z1176:Myh14	UTSW	7	44638309	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACCTTTAGAACTCGGGCAG -3'
(R):5'- AAAGACGTTGCCTTGAGTCC -3'

Sequencing Primer
(F):5'- TTTAGAACTCGGGCAGCATAC -3'
(R):5'- TAGGGTCTGGACAGGGATCC -3'

Posted On

2014-06-23