Mutagenetix > Incidental Mutations

Incidental Mutation 'R7380:Myh14'

572635

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

NMHC II-C, 2400004E04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44605803-44670843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44661042 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 139 (V139E)

Ref Sequence

ENSEMBL: ENSMUSP00000103531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775] [ENSMUST00000208131]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048102
AA Change: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: V139E

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

probably damaging
Transcript: ENSMUST00000107899
AA Change: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: V139E

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: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: V139E

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

probably damaging
Transcript: ENSMUST00000207775
AA Change: V139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208131

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	A	9: 103,279,481	Q127*	probably null	Het
1700030J22Rik	T	C	8: 116,973,637	T9A	probably benign	Het
Abcc5	A	T	16: 20,397,034	S414R	possibly damaging	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Ankib1	G	T	5: 3,722,576	Q487K	probably benign	Het
BC034090	T	G	1: 155,232,483	S11R	probably damaging	Het
Car12	A	G	9: 66,747,663	N125S	probably benign	Het
Casq1	A	G	1: 172,216,849	V137A	probably benign	Het
Ccdc144b	T	A	3: 36,025,921	D229V	possibly damaging	Het
Cd163l1	A	T	7: 140,224,877	N598Y	possibly damaging	Het
Cfap54	C	A	10: 93,047,978	V305F	probably damaging	Het
Clstn3	T	C	6: 124,456,989	E404G	probably benign	Het
Copg1	T	G	6: 87,893,842	L209R	probably damaging	Het
Cpb2	A	T	14: 75,256,009	Q42L	possibly damaging	Het
Cpd	G	A	11: 76,802,325	Q712*	probably null	Het
Csmd3	T	A	15: 47,586,965	Y2690F		Het
Dchs1	G	T	7: 105,758,628	T1999K	probably benign	Het
Ddx10	T	A	9: 53,240,486	T80S	probably damaging	Het
Dmtn	G	A	14: 70,617,328	T69I	probably damaging	Het
Dnah5	T	A	15: 28,370,378	H2821Q	probably damaging	Het
Fam162b	T	A	10: 51,590,476		probably benign	Het
Fam193b	A	C	13: 55,542,799	S717A	probably benign	Het
Far2	T	C	6: 148,180,995	F500L	unknown	Het
Focad	T	A	4: 88,274,198	V588D	unknown	Het
Gm12728	T	C	4: 105,794,396	F68L	probably damaging	Het
Gm1527	T	A	3: 28,920,472	M478K	probably benign	Het
Gpd2	A	T	2: 57,340,159	I308F	probably damaging	Het
Igf2bp3	T	C	6: 49,108,999	T249A	probably benign	Het
Igfn1	C	A	1: 135,962,008	V2434F	probably damaging	Het
Kdm5a	C	A	6: 120,405,918	Q737K	probably benign	Het
Khdrbs2	T	C	1: 32,333,604	S120P	unknown	Het
Lmx1a	T	C	1: 167,692,040	F46L	probably damaging	Het
Lrba	C	G	3: 86,325,074	T776R	probably damaging	Het
Lrrc8c	A	G	5: 105,607,835	N492S	possibly damaging	Het
Mapk3	A	T	7: 126,764,795	I365F		Het
Mcee	A	G	7: 64,411,909	I153M	possibly damaging	Het
Mllt3	T	C	4: 87,791,943	D415G	possibly damaging	Het
Muc4	A	T	16: 32,755,366	T1747S	unknown	Het
Myo10	A	T	15: 25,779,620	I772L	probably benign	Het
Naa15	T	G	3: 51,459,847		probably null	Het
Nbeal1	T	A	1: 60,244,810	I841N	probably damaging	Het
Nf1	C	T	11: 79,546,276	T2006I	probably damaging	Het
Npr2	T	A	4: 43,641,254	W427R	probably damaging	Het
Nr1h3	A	T	2: 91,190,195	F324L	possibly damaging	Het
Obscn	T	C	11: 59,056,914	K4430E		Het
Olfr203	A	G	16: 59,304,028	R292G	probably damaging	Het
Olfr213	T	C	6: 116,540,933	L160P	probably benign	Het
Olfr396-ps1	T	A	11: 73,928,187	Y61N	possibly damaging	Het
Olfr791	A	T	10: 129,526,661	T145S	probably benign	Het
Osgin1	T	A	8: 119,445,431	H321Q	probably benign	Het
P4ha1	A	G	10: 59,350,451	I251V	probably benign	Het
Padi2	G	A	4: 140,917,686	W77*	probably null	Het
Pkd1	T	A	17: 24,581,642	I3086N	probably damaging	Het
Plk3	T	C	4: 117,131,153	N360S	probably benign	Het
Prr14	A	T	7: 127,476,442	S541C	probably null	Het
Ptch2	C	A	4: 117,114,646	Q1122K	possibly damaging	Het
Rab3gap1	T	C	1: 127,937,990	V764A	possibly damaging	Het
Rad50	T	C	11: 53,695,396	I258V	probably benign	Het
Rapgef3	G	T	15: 97,766,791	R64S	probably benign	Het
Rbm44	A	G	1: 91,152,216	N42S	possibly damaging	Het
Ring1	T	C	17: 34,021,720	Y361C	probably damaging	Het
Robo3	T	C	9: 37,418,556	T1155A	probably damaging	Het
Rsf1	GGCGG	GGCGGTGGCCGCGG	7: 97,579,915		probably benign	Het
Ryr3	T	C	2: 112,640,157	T4682A	probably damaging	Het
Sema7a	T	C	9: 57,961,564	V653A	unknown	Het
Slc16a13	T	C	11: 70,219,279	Y132C	probably damaging	Het
Slc24a1	A	G	9: 64,948,533	V364A	unknown	Het
Slc8a2	C	T	7: 16,134,353	A170V	probably damaging	Het
Slfn8	C	T	11: 83,003,740	R691Q	not run	Het
Snx2	T	C	18: 53,194,568	V122A	probably benign	Het
Sstr1	A	T	12: 58,213,280	M230L	probably benign	Het
Themis2	C	T	4: 132,786,217	V233I	possibly damaging	Het
Tmem106b	T	C	6: 13,078,168	S121P	probably damaging	Het
Tmem63c	A	G	12: 87,077,948	I529V	probably benign	Het
Tmem94	T	C	11: 115,796,145		probably null	Het
Trmt10c	A	T	16: 56,034,256	W339R	probably damaging	Het
Ugt2b1	A	T	5: 86,917,719	F487Y	not run	Het
Vmn2r91	T	A	17: 18,136,576	L835*	probably null	Het
Vps52	C	A	17: 33,958,309	N108K	possibly damaging	Het
Wdpcp	T	A	11: 21,711,585	C286S	possibly damaging	Het
Zfp959	T	A	17: 55,898,551	H529Q	possibly damaging	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
R1848:Myh14	UTSW	7	44632429	missense	probably damaging	0.98
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
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
X0026:Myh14	UTSW	7	44614394	missense	probably benign	0.00
X0063:Myh14	UTSW	7	44624133	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCAAGTCATTACTCAAGCCTAGC -3'
(R):5'- ACCAAGAGAACAAAGTAGCTTTATG -3'

Sequencing Primer
(F):5'- ATTACTCAAGCCTAGCCCTGG -3'
(R):5'- AACAAAGTAGCTTTATGTTGTCTGGG -3'

Posted On

2019-09-13