Mutagenetix > Incidental Mutation

Incidental Mutation 'R8410:Myh14'

652623

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

2400004E04Rik, NMHC II-C

MMRRC Submission

067880-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8410 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44282907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 737 (F737L)

Ref Sequence

ENSEMBL: ENSMUSP00000103531 (fasta)

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048102
AA Change: F745L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: F745L

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: F737L

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

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: F737L

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: F745L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: F745L

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: F778L

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

Predicted Effect

Meta Mutation Damage Score

0.6460

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (40/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	T	12: 110,635,145 (GRCm39)	M131K	probably benign	Het
Alox15	T	C	11: 70,235,753 (GRCm39)	T569A	probably benign	Het
Arfgef1	A	G	1: 10,229,867 (GRCm39)	V1278A	possibly damaging	Het
Armc5	C	T	7: 127,839,323 (GRCm39)	R214C	probably damaging	Het
Asl	A	G	5: 130,042,351 (GRCm39)	F242L	possibly damaging	Het
Atoh1	G	A	6: 64,706,634 (GRCm39)	G110S	probably benign	Het
Caskin1	T	C	17: 24,721,123 (GRCm39)	F488L	possibly damaging	Het
Chsy1	T	A	7: 65,775,211 (GRCm39)	L180Q	probably damaging	Het
D1Pas1	A	T	1: 186,700,512 (GRCm39)	Q147L	probably benign	Het
D930020B18Rik	A	G	10: 121,521,435 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,395,819 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,380,791 (GRCm39)	E2512G	possibly damaging	Het
Eci2	T	C	13: 35,162,018 (GRCm39)	K351R	probably benign	Het
Frem2	A	G	3: 53,446,598 (GRCm39)	V2390A	possibly damaging	Het
Frmpd2	G	A	14: 33,217,624 (GRCm39)	A40T	probably damaging	Het
Gapdhs	G	A	7: 30,437,335 (GRCm39)	P77S	unknown	Het
Heatr5a	T	A	12: 51,984,903 (GRCm39)	I637F	probably benign	Het
Jakmip1	G	A	5: 37,274,828 (GRCm39)	V449M	possibly damaging	Het
Nbea	A	G	3: 55,944,684 (GRCm39)	V560A	probably damaging	Het
Or13n4	T	A	7: 106,423,745 (GRCm39)		probably benign	Het
Or2v2	A	T	11: 49,004,511 (GRCm39)	I14N	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,047 (GRCm39)	M150K	probably damaging	Het
Or6x1	C	T	9: 40,098,732 (GRCm39)	T107I	possibly damaging	Het
Prex2	G	T	1: 11,223,881 (GRCm39)	R735L	possibly damaging	Het
Rrm2	T	C	12: 24,758,622 (GRCm39)	S55P	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ruvbl2	T	C	7: 45,080,756 (GRCm39)	I19V	probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Slc15a5	A	T	6: 137,989,153 (GRCm39)	M147K		Het
St3gal5	A	G	6: 72,119,281 (GRCm39)	D158G	probably benign	Het
Stac3	G	A	10: 127,339,199 (GRCm39)	D103N	probably damaging	Het
Syt2	G	A	1: 134,674,602 (GRCm39)	E347K	possibly damaging	Het
Tent5b	A	G	4: 133,214,362 (GRCm39)	Q411R	possibly damaging	Het
Ticrr	A	G	7: 79,317,423 (GRCm39)	E319G	probably damaging	Het
Ttn	A	G	2: 76,539,985 (GRCm39)	S34334P	probably damaging	Het
Uqcrb	C	A	13: 67,048,850 (GRCm39)	R100L	unknown	Het
Usp43	T	G	11: 67,747,146 (GRCm39)	T854P	probably damaging	Het
Vmn2r102	T	C	17: 19,898,196 (GRCm39)	Y404H	possibly damaging	Het
Wrn	C	T	8: 33,759,048 (GRCm39)	G970D	probably damaging	Het
Zfp456	A	G	13: 67,520,915 (GRCm39)	Y27H	probably damaging	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zyx	A	T	6: 42,333,384 (GRCm39)	N437Y	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
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
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'- ATAGAGGATCGCACACTTGC -3'
(R):5'- GTGTGGGCAACTTAATAACATCG -3'

Sequencing Primer
(F):5'- TTGCAGTGACCCTAAATACAGCTG -3'
(R):5'- GTGTGTTACTCAGCAATGAAGTTCC -3'

Posted On

2020-10-20