Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Myh14'

397300

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 #

R5166 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44278279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1024 (F1024L)

Ref Sequence

ENSEMBL: ENSMUSP00000103531 (fasta)

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

probably benign
Transcript: ENSMUST00000048102
AA Change: F1032L

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: F1032L

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: F1024L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: F1024L

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 benign
Transcript: ENSMUST00000107900
AA Change: F1032L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: F1032L

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 benign
Transcript: ENSMUST00000207775
AA Change: F1065L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208085

Predicted Effect

unknown
Transcript: ENSMUST00000208200
AA Change: F710L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209024

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,738,083 (GRCm39)	T435A	probably benign	Het
Adcy3	T	A	12: 4,184,438 (GRCm39)	I38N	probably damaging	Het
Aff1	A	G	5: 103,902,523 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,243,041 (GRCm39)	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,777,105 (GRCm39)	N517K	probably damaging	Het
Carmil1	C	T	13: 24,338,966 (GRCm39)		probably null	Het
Ccdc185	G	A	1: 182,576,564 (GRCm39)	Q42*	probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh10	A	G	15: 19,013,446 (GRCm39)	E682G	probably damaging	Het
Col6a3	C	A	1: 90,738,330 (GRCm39)	R456L	probably damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Flt4	T	C	11: 49,524,084 (GRCm39)		probably null	Het
Fstl5	A	C	3: 76,536,267 (GRCm39)	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,056,821 (GRCm39)	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854 (GRCm39)	S157R	probably benign	Het
Gzmc	G	A	14: 56,471,433 (GRCm39)	A36V	probably damaging	Het
Hexb	T	C	13: 97,318,512 (GRCm39)	N283S	probably benign	Het
Hydin	A	G	8: 111,249,774 (GRCm39)	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,657,544 (GRCm39)	Y20F	probably benign	Het
Il17re	A	G	6: 113,439,923 (GRCm39)	T181A	probably benign	Het
Kcnh6	G	A	11: 105,911,145 (GRCm39)	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,401,254 (GRCm39)	R460W	probably damaging	Het
Krtap5-2	A	T	7: 141,728,721 (GRCm39)	S320T	unknown	Het
Larp1b	G	T	3: 40,918,487 (GRCm39)	E24*	probably null	Het
Mettl22	A	G	16: 8,296,115 (GRCm39)	T135A	probably benign	Het
Mlh1	A	G	9: 111,070,581 (GRCm39)	V378A	probably benign	Het
Mmrn1	A	T	6: 60,953,474 (GRCm39)	H585L	probably benign	Het
Nbea	A	T	3: 55,926,874 (GRCm39)	H776Q	probably damaging	Het
Nod2	A	G	8: 89,390,875 (GRCm39)	D372G	possibly damaging	Het
Nptn	C	T	9: 58,526,263 (GRCm39)	R137*	probably null	Het
Or9k2	T	C	10: 129,998,430 (GRCm39)	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803 (GRCm39)	V267I	probably benign	Het
Rassf10	A	G	7: 112,553,627 (GRCm39)	D76G	probably benign	Het
Rbbp5	A	G	1: 132,418,303 (GRCm39)	T41A	possibly damaging	Het
Rttn	T	C	18: 89,031,218 (GRCm39)	V643A	possibly damaging	Het
Sbno2	C	A	10: 79,902,762 (GRCm39)	E421*	probably null	Het
Slc17a3	T	C	13: 24,026,525 (GRCm39)		probably null	Het
Slc1a6	T	A	10: 78,632,103 (GRCm39)		probably null	Het
Slco2b1	A	G	7: 99,338,220 (GRCm39)	S106P	possibly damaging	Het
Spef1	T	C	2: 131,016,511 (GRCm39)	N28S	probably damaging	Het
Srebf2	C	A	15: 82,069,603 (GRCm39)	T675N	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tbcd	T	A	11: 121,500,216 (GRCm39)	L1114H	possibly damaging	Het
Tex15	T	C	8: 34,066,420 (GRCm39)	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,413,263 (GRCm39)	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,520,402 (GRCm39)	D150G	probably benign	Het
Ttn	A	G	2: 76,693,717 (GRCm39)	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,994,027 (GRCm39)	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,908,125 (GRCm39)	E119V	probably benign	Het
Wrn	A	T	8: 33,842,100 (GRCm39)		probably null	Het
Zfp398	A	G	6: 47,842,838 (GRCm39)	I165V	probably benign	Het
Zfp850	A	T	7: 27,689,781 (GRCm39)	C142*	probably null	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
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'- AGCTTCTCTAGTTCCTGGCG -3'
(R):5'- GTGCTTAATACCATTCGTGAGTC -3'

Sequencing Primer
(F):5'- TTCTTCAGCCGGTCTGCGG -3'
(R):5'- ATACCATTCGTGAGTCCCTAAGGTG -3'

Posted On

2016-07-06