Mutagenetix > Incidental Mutation

Incidental Mutation 'R5961:Myh14'

471827

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

2400004E04Rik, NMHC II-C

MMRRC Submission

043247-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5961 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44272518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1437 (E1437V)

Ref Sequence

ENSEMBL: ENSMUSP00000046059 (fasta)

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048102
AA Change: E1437V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: E1437V

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 benign
Transcript: ENSMUST00000107899
AA Change: E1429V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: E1429V

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

possibly damaging
Transcript: ENSMUST00000107900
AA Change: E1437V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: E1437V

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: E1470V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000208200

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

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-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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,338 (GRCm39)	L203P	probably damaging	Het
Aen	C	G	7: 78,556,907 (GRCm39)	H252D	probably damaging	Het
Alkbh6	T	A	7: 30,013,617 (GRCm39)		probably null	Het
Birc6	T	C	17: 74,953,596 (GRCm39)	V3286A	probably damaging	Het
Cacna1h	A	G	17: 25,596,246 (GRCm39)	M1925T	probably benign	Het
Caprin2	A	C	6: 148,765,038 (GRCm39)	S554R	probably damaging	Het
Celsr3	T	C	9: 108,708,993 (GRCm39)	S1280P	probably damaging	Het
Cfap57	T	C	4: 118,428,942 (GRCm39)	E1008G	probably benign	Het
Csmd1	A	G	8: 16,120,366 (GRCm39)	I1813T	probably damaging	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dnah2	A	G	11: 69,321,974 (GRCm39)	F3782S	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnajc17	T	C	2: 119,016,527 (GRCm39)	T64A	possibly damaging	Het
Dvl3	T	G	16: 20,349,729 (GRCm39)	S567R	possibly damaging	Het
Epb41l1	T	A	2: 156,363,706 (GRCm39)	S738R	probably benign	Het
Exph5	T	C	9: 53,288,555 (GRCm39)	W1879R	probably damaging	Het
Fam83a	T	A	15: 57,872,992 (GRCm39)	F274I	possibly damaging	Het
Ggt1	A	G	10: 75,421,736 (GRCm39)		probably null	Het
Ido2	C	T	8: 25,023,786 (GRCm39)	V351M	probably damaging	Het
Kcnt2	A	G	1: 140,435,440 (GRCm39)	E469G	possibly damaging	Het
Kdm2b	A	G	5: 123,070,724 (GRCm39)	S403P	probably benign	Het
Klhl2	C	T	8: 65,202,818 (GRCm39)	R460H	probably damaging	Het
Mfsd6l	A	G	11: 68,447,368 (GRCm39)	Y73C	possibly damaging	Het
Mlec	A	T	5: 115,288,159 (GRCm39)	C205*	probably null	Het
Mlx	T	C	11: 100,980,053 (GRCm39)	Y129H	probably damaging	Het
Mmadhc	T	C	2: 50,181,421 (GRCm39)	H83R	probably damaging	Het
Mmp16	T	C	4: 17,853,842 (GRCm39)	F41S	probably benign	Het
Mroh6	G	A	15: 75,759,617 (GRCm39)	Q187*	probably null	Het
Nrxn1	A	C	17: 90,762,371 (GRCm39)	L37R	probably damaging	Het
Or6c209	T	C	10: 129,483,723 (GRCm39)	M242T	possibly damaging	Het
Pkhd1l1	A	C	15: 44,322,859 (GRCm39)	R48S	probably damaging	Het
Prokr2	A	G	2: 132,215,595 (GRCm39)	Y128H	possibly damaging	Het
Prtg	T	C	9: 72,764,228 (GRCm39)	V567A	probably benign	Het
Rbis	T	C	3: 14,676,124 (GRCm39)	T26A	possibly damaging	Het
Srrm2	G	A	17: 24,039,083 (GRCm39)		probably benign	Het
Stat4	A	T	1: 52,104,543 (GRCm39)	I115L	possibly damaging	Het
Tnxb	G	A	17: 34,937,609 (GRCm39)	V3833M	probably damaging	Het
Ugt2b36	C	T	5: 87,228,724 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Usp47	T	C	7: 111,652,523 (GRCm39)	S47P	probably damaging	Het
Vps53	A	G	11: 75,939,316 (GRCm39)	Y696H	probably damaging	Het
Zfp384	T	C	6: 125,000,997 (GRCm39)	I23T	probably damaging	Het
Zfp804a	A	G	2: 82,088,346 (GRCm39)	Y725C	probably benign	Het

Other mutations in Myh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Myh14	APN	7	44,255,716 (GRCm39)	unclassified	probably benign
IGL01431:Myh14	APN	7	44,263,782 (GRCm39)	missense	probably null	0.00
IGL01722:Myh14	APN	7	44,292,956 (GRCm39)	missense	probably damaging	1.00
IGL01806:Myh14	APN	7	44,307,363 (GRCm39)	missense	probably benign	0.19
IGL02034:Myh14	APN	7	44,265,717 (GRCm39)	missense	possibly damaging	0.58
IGL02260:Myh14	APN	7	44,260,995 (GRCm39)	missense	probably damaging	1.00
IGL02590:Myh14	APN	7	44,273,503 (GRCm39)	missense	probably damaging	1.00
IGL02696:Myh14	APN	7	44,314,530 (GRCm39)	missense	probably damaging	1.00
IGL02705:Myh14	APN	7	44,257,960 (GRCm39)	missense	possibly damaging	0.66
IGL03193:Myh14	APN	7	44,279,369 (GRCm39)	missense	possibly damaging	0.91
PIT4581001:Myh14	UTSW	7	44,262,906 (GRCm39)	missense	probably benign	0.04
R0067:Myh14	UTSW	7	44,272,551 (GRCm39)	missense	probably benign	0.05
R0083:Myh14	UTSW	7	44,283,943 (GRCm39)	missense	probably damaging	0.98
R0108:Myh14	UTSW	7	44,283,943 (GRCm39)	missense	probably damaging	0.98
R0152:Myh14	UTSW	7	44,272,605 (GRCm39)	missense	probably damaging	1.00
R0369:Myh14	UTSW	7	44,310,374 (GRCm39)	missense	probably damaging	1.00
R0552:Myh14	UTSW	7	44,263,105 (GRCm39)	missense	probably damaging	1.00
R0699:Myh14	UTSW	7	44,274,395 (GRCm39)	missense	possibly damaging	0.67
R0763:Myh14	UTSW	7	44,314,791 (GRCm39)	missense	probably damaging	0.98
R1079:Myh14	UTSW	7	44,279,426 (GRCm39)	missense	probably damaging	1.00
R1388:Myh14	UTSW	7	44,314,546 (GRCm39)	missense	probably damaging	0.98
R1432:Myh14	UTSW	7	44,265,723 (GRCm39)	missense	probably damaging	1.00
R1568:Myh14	UTSW	7	44,261,122 (GRCm39)	nonsense	probably null
R1579:Myh14	UTSW	7	44,305,118 (GRCm39)	splice site	probably null
R1598:Myh14	UTSW	7	44,287,818 (GRCm39)	missense	probably damaging	0.96
R1848:Myh14	UTSW	7	44,281,853 (GRCm39)	missense	probably damaging	0.98
R1869:Myh14	UTSW	7	44,261,067 (GRCm39)	missense	possibly damaging	0.95
R1917:Myh14	UTSW	7	44,307,349 (GRCm39)	missense	probably benign
R1933:Myh14	UTSW	7	44,264,772 (GRCm39)	missense	probably benign	0.09
R1984:Myh14	UTSW	7	44,288,446 (GRCm39)	missense	probably damaging	1.00
R2154:Myh14	UTSW	7	44,301,853 (GRCm39)	critical splice donor site	probably null
R2190:Myh14	UTSW	7	44,310,487 (GRCm39)	missense	probably damaging	1.00
R2217:Myh14	UTSW	7	44,283,800 (GRCm39)	missense	probably damaging	1.00
R2239:Myh14	UTSW	7	44,314,607 (GRCm39)	missense	probably damaging	1.00
R2918:Myh14	UTSW	7	44,265,687 (GRCm39)	missense	possibly damaging	0.91
R4091:Myh14	UTSW	7	44,282,415 (GRCm39)	missense	possibly damaging	0.93
R4110:Myh14	UTSW	7	44,277,974 (GRCm39)	missense	probably benign	0.00
R4199:Myh14	UTSW	7	44,264,927 (GRCm39)	nonsense	probably null
R4507:Myh14	UTSW	7	44,279,415 (GRCm39)	missense	probably benign	0.00
R4539:Myh14	UTSW	7	44,276,478 (GRCm39)	missense	probably damaging	1.00
R4550:Myh14	UTSW	7	44,283,857 (GRCm39)	missense	probably damaging	1.00
R4673:Myh14	UTSW	7	44,273,754 (GRCm39)	missense	probably damaging	1.00
R4768:Myh14	UTSW	7	44,263,099 (GRCm39)	missense	probably benign	0.19
R4832:Myh14	UTSW	7	44,274,566 (GRCm39)	missense	probably benign	0.31
R4853:Myh14	UTSW	7	44,257,872 (GRCm39)	missense	probably damaging	1.00
R4901:Myh14	UTSW	7	44,310,464 (GRCm39)	missense	probably damaging	1.00
R4928:Myh14	UTSW	7	44,284,926 (GRCm39)	missense	probably benign	0.00
R5070:Myh14	UTSW	7	44,265,672 (GRCm39)	missense	possibly damaging	0.91
R5166:Myh14	UTSW	7	44,278,279 (GRCm39)	missense	probably damaging	0.99
R5726:Myh14	UTSW	7	44,292,886 (GRCm39)	critical splice donor site	probably null
R5786:Myh14	UTSW	7	44,262,887 (GRCm39)	missense	probably benign	0.23
R5895:Myh14	UTSW	7	44,256,133 (GRCm39)	missense	probably damaging	1.00
R6014:Myh14	UTSW	7	44,274,502 (GRCm39)	missense	probably null
R6080:Myh14	UTSW	7	44,305,035 (GRCm39)	missense	probably damaging	1.00
R6187:Myh14	UTSW	7	44,276,457 (GRCm39)	missense	probably damaging	1.00
R6657:Myh14	UTSW	7	44,287,270 (GRCm39)	missense	probably damaging	1.00
R6833:Myh14	UTSW	7	44,273,803 (GRCm39)	nonsense	probably null
R6894:Myh14	UTSW	7	44,282,936 (GRCm39)	missense	probably damaging	1.00
R6916:Myh14	UTSW	7	44,278,737 (GRCm39)	missense	probably damaging	0.96
R6962:Myh14	UTSW	7	44,307,363 (GRCm39)	missense	probably benign	0.36
R7066:Myh14	UTSW	7	44,280,179 (GRCm39)	missense	possibly damaging	0.69
R7261:Myh14	UTSW	7	44,273,761 (GRCm39)	nonsense	probably null
R7303:Myh14	UTSW	7	44,261,125 (GRCm39)	missense	probably damaging	1.00
R7304:Myh14	UTSW	7	44,279,415 (GRCm39)	missense	probably benign	0.00
R7327:Myh14	UTSW	7	44,260,977 (GRCm39)	missense	possibly damaging	0.53
R7380:Myh14	UTSW	7	44,310,466 (GRCm39)	missense	probably damaging	1.00
R7570:Myh14	UTSW	7	44,281,850 (GRCm39)	missense	probably benign	0.37
R7622:Myh14	UTSW	7	44,281,846 (GRCm39)	missense	probably benign	0.25
R7681:Myh14	UTSW	7	44,273,572 (GRCm39)	missense	possibly damaging	0.81
R7718:Myh14	UTSW	7	44,310,464 (GRCm39)	missense	probably damaging	1.00
R7910:Myh14	UTSW	7	44,281,819 (GRCm39)	missense	probably damaging	1.00
R8054:Myh14	UTSW	7	44,274,551 (GRCm39)	missense	probably damaging	0.97
R8088:Myh14	UTSW	7	44,314,920 (GRCm39)	start codon destroyed	probably null	0.94
R8164:Myh14	UTSW	7	44,274,457 (GRCm39)	missense	probably benign	0.01
R8260:Myh14	UTSW	7	44,264,800 (GRCm39)	missense	probably damaging	1.00
R8299:Myh14	UTSW	7	44,276,472 (GRCm39)	missense	probably damaging	1.00
R8410:Myh14	UTSW	7	44,282,907 (GRCm39)	missense	probably damaging	1.00
R8723:Myh14	UTSW	7	44,272,407 (GRCm39)	missense	probably damaging	1.00
R8853:Myh14	UTSW	7	44,265,678 (GRCm39)	missense	probably benign	0.08
R8934:Myh14	UTSW	7	44,306,852 (GRCm39)	missense	probably benign
R9169:Myh14	UTSW	7	44,271,281 (GRCm39)	missense	possibly damaging	0.73
R9395:Myh14	UTSW	7	44,274,584 (GRCm39)	missense	possibly damaging	0.66
R9451:Myh14	UTSW	7	44,273,743 (GRCm39)	critical splice donor site	probably null
X0026:Myh14	UTSW	7	44,263,818 (GRCm39)	missense	probably benign	0.00
X0063:Myh14	UTSW	7	44,273,557 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh14	UTSW	7	44,287,733 (GRCm39)	missense	probably damaging	0.98
Z1176:Myh14	UTSW	7	44,257,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGGGTTTCTGGTTCCTCAG -3'
(R):5'- TTCCCGCTAAAGGCTTCAGTTG -3'

Sequencing Primer
(F):5'- TCTGGTTCCTCAGGGTAGCC -3'
(R):5'- TAAAGGCTTCAGTTGACACCCAGG -3'

Posted On

2017-03-31