Mutagenetix > Incidental Mutation

Incidental Mutation 'R4539:Myh14'

333453

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

2400004E04Rik, NMHC II-C

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44276478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1209 (L1209P)

Ref Sequence

ENSEMBL: ENSMUSP00000147115 (fasta)

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048102
AA Change: L1176P

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

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: L1176P

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: L1168P

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

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: L1168P

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: L1176P

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

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: L1176P

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: L1209P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208085

Predicted Effect

unknown
Transcript: ENSMUST00000208200
AA Change: L854P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209024

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,793 (GRCm39)	T702A	probably benign	Het
Alms1	C	T	6: 85,597,460 (GRCm39)	T762I	possibly damaging	Het
Arhgef18	T	C	8: 3,497,070 (GRCm39)	M465T	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Camta1	T	C	4: 151,169,269 (GRCm39)	I161V	probably benign	Het
Cpeb4	G	A	11: 31,823,206 (GRCm39)	G307S	probably damaging	Het
Eps8l1	T	C	7: 4,481,623 (GRCm39)	V707A	probably damaging	Het
Espn	G	A	4: 152,218,665 (GRCm39)	Q473*	probably null	Het
Fut9	A	T	4: 25,619,793 (GRCm39)	H340Q	probably damaging	Het
Gm11554	A	T	11: 99,695,186 (GRCm39)		probably benign	Het
Hcar2	A	G	5: 124,002,793 (GRCm39)	F237L	probably damaging	Het
Hectd4	T	A	5: 121,452,970 (GRCm39)	C492*	probably null	Het
Lrrk2	C	T	15: 91,613,345 (GRCm39)	P823L	possibly damaging	Het
Luzp2	A	T	7: 54,713,037 (GRCm39)	Q91L	probably damaging	Het
Mapkapk5	T	A	5: 121,675,218 (GRCm39)	H117L	possibly damaging	Het
Myo3b	T	G	2: 69,869,491 (GRCm39)	M1R	probably null	Het
Nacad	A	T	11: 6,550,677 (GRCm39)	V838E	possibly damaging	Het
Neurl1a	T	A	19: 47,245,183 (GRCm39)	S458T	probably damaging	Het
Pdzrn4	A	G	15: 92,668,470 (GRCm39)	D874G	probably damaging	Het
Phykpl	A	G	11: 51,484,915 (GRCm39)	T292A	probably damaging	Het
Piezo2	A	G	18: 63,219,699 (GRCm39)	Y1003H	probably damaging	Het
Ppih	A	G	4: 119,177,656 (GRCm39)	S6P	probably benign	Het
Qrich1	A	G	9: 108,411,399 (GRCm39)	E308G	probably damaging	Het
Setx	A	G	2: 29,069,760 (GRCm39)	T2522A	probably benign	Het
Slc26a8	A	T	17: 28,878,591 (GRCm39)	M332K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sphkap	A	G	1: 83,255,514 (GRCm39)	V745A	probably benign	Het
Swi5	T	C	2: 32,169,092 (GRCm39)	N118S	possibly damaging	Het
Tenm2	T	C	11: 35,937,607 (GRCm39)	T1689A	probably damaging	Het
Ttll9	C	T	2: 152,836,011 (GRCm39)	R252C	probably damaging	Het
Vars2	T	A	17: 35,977,780 (GRCm39)	E80V	probably damaging	Het
Zbtb39	G	A	10: 127,578,061 (GRCm39)	D212N	possibly damaging	Het
Zfp418	C	A	7: 7,184,276 (GRCm39)	Q80K	probably benign	Het
Zscan25	A	G	5: 145,225,201 (GRCm39)	D259G	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
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
R5961:Myh14	UTSW	7	44,272,518 (GRCm39)	missense	probably damaging	0.96
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'- TTCACACCTTCAGAGCTGGTG -3'
(R):5'- GTGCCAACCAATTCCCTTG -3'

Sequencing Primer
(F):5'- CTTCAGAGCTGGTGCCTCTG -3'
(R):5'- GGTCCTTGTCACACCCACAG -3'

Posted On

2015-08-18