Mutagenetix > Incidental Mutation

Incidental Mutation 'R1388:Myh14'

162494

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

2400004E04Rik, NMHC II-C

MMRRC Submission

039450-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44314546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 126 (Y126N)

Ref Sequence

ENSEMBL: ENSMUSP00000103532 (fasta)

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048102
AA Change: Y126N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: Y126N

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: Y126N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: Y126N

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: Y126N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: Y126N

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: Y126N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000208131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209111

Meta Mutation Damage Score

0.1367

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

98% (47/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	T	G	12: 84,105,761 (GRCm39)	H409Q	possibly damaging	Het
Adgra1	T	C	7: 139,453,919 (GRCm39)	V152A	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Ccdc174	C	A	6: 91,858,225 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,417,702 (GRCm39)		probably benign	Het
Clca4b	A	T	3: 144,622,415 (GRCm39)	V550D	probably benign	Het
Dab2ip	C	T	2: 35,611,268 (GRCm39)		probably benign	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm2959	A	T	14: 42,235,660 (GRCm39)		noncoding transcript	Het
Gmnc	A	G	16: 26,782,662 (GRCm39)	L80P	probably damaging	Het
Gtf2ird1	T	C	5: 134,424,564 (GRCm39)	D394G	probably damaging	Het
Heatr1	T	C	13: 12,432,328 (GRCm39)		probably benign	Het
Il1a	T	C	2: 129,148,501 (GRCm39)	S70G	possibly damaging	Het
Kctd19	T	C	8: 106,118,683 (GRCm39)	S293G	probably null	Het
Klra4	T	C	6: 130,039,198 (GRCm39)		probably benign	Het
Kplce	G	T	3: 92,776,356 (GRCm39)	T109K	probably damaging	Het
Mr1	T	C	1: 155,008,249 (GRCm39)	E242G	probably damaging	Het
Mrnip	C	A	11: 50,087,772 (GRCm39)	A98E	probably benign	Het
Mybpc3	C	T	2: 90,953,219 (GRCm39)	P155S	probably benign	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or10g9	A	G	9: 39,911,948 (GRCm39)	S192P	probably damaging	Het
Or10j3	T	C	1: 173,031,445 (GRCm39)	V174A	probably benign	Het
Pnisr	T	C	4: 21,862,041 (GRCm39)	M243T	possibly damaging	Het
Ptprr	A	G	10: 116,109,657 (GRCm39)	S633G	probably benign	Het
Rasip1	T	A	7: 45,279,656 (GRCm39)	S300T	probably damaging	Het
Sbsn	A	T	7: 30,451,576 (GRCm39)	H197L	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sim1	T	A	10: 50,772,090 (GRCm39)	I33N	probably damaging	Het
Speg	A	G	1: 75,407,104 (GRCm39)	D2878G	probably damaging	Het
Taf2	T	A	15: 54,900,021 (GRCm39)	N864I	probably benign	Het
Tmem43	G	T	6: 91,455,785 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,542,135 (GRCm39)	E25290G	probably damaging	Het
Ush2a	A	G	1: 188,255,515 (GRCm39)		probably benign	Het
Usp53	T	C	3: 122,751,277 (GRCm39)	E260G	probably damaging	Het
Vmn2r12	T	G	5: 109,240,840 (GRCm39)	Y91S	possibly damaging	Het
Vmn2r59	A	T	7: 41,695,133 (GRCm39)	N426K	probably benign	Het
Whamm	C	A	7: 81,236,038 (GRCm39)	L414I	probably damaging	Het
Zfhx4	A	G	3: 5,466,447 (GRCm39)	T2227A	probably damaging	Het
Zfp866	C	T	8: 70,218,834 (GRCm39)	R262Q	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
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
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'- CATATAGGACACCCCAGTCAGGAGG -3'
(R):5'- TCGGAACTGCATGGGTTCGAGG -3'

Sequencing Primer
(F):5'- aacaaagaatcaaacaccccag -3'
(R):5'- TGGGTTCGAGGCAGCAG -3'

Posted On

2014-03-17