Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01139:Myh14'

51644

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

44255227-44320267 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 44255716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000207775] [ENSMUST00000208651]

AlphaFold

Q6URW6

Predicted Effect

unknown
Transcript: ENSMUST00000048102
AA Change: D1974G

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: D1974G

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

unknown
Transcript: ENSMUST00000107899
AA Change: D1966G

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: D1966G

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

unknown
Transcript: ENSMUST00000107900
AA Change: D1974G

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: D1974G

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: ENSMUST00000107906

SMART Domains

Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785

Domain	Start	End	E-Value	Type
Pfam:Potassium_chann	1	21	8e-9	PFAM
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	290	551	4.1e-45	PFAM
Pfam:Ion_trans_2	451	544	8.2e-12	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	730	746	N/A	INTRINSIC
low complexity region	750	767	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107907

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	351	539	1.5e-31	PFAM
Pfam:Ion_trans_2	450	544	2.4e-11	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	729	745	N/A	INTRINSIC
low complexity region	749	766	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125870
AA Change: *317W

Predicted Effect

probably benign
Transcript: ENSMUST00000207493

Predicted Effect

unknown
Transcript: ENSMUST00000207775
AA Change: D2007G

Predicted Effect

unknown
Transcript: ENSMUST00000208200
AA Change: D1218G

Predicted Effect

probably benign
Transcript: ENSMUST00000207497

Predicted Effect

probably benign
Transcript: ENSMUST00000208651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208044

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,259 (GRCm39)	Y297*	probably null	Het
Actr3	A	T	1: 125,333,622 (GRCm39)	I215N	probably damaging	Het
Ambn	C	T	5: 88,612,376 (GRCm39)		probably benign	Het
Arhgef1	T	A	7: 24,625,376 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,421,308 (GRCm39)	S832R	unknown	Het
Clca4a	A	T	3: 144,672,030 (GRCm39)	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,366,248 (GRCm39)	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,171,143 (GRCm39)	D211E	probably damaging	Het
Eri2	A	G	7: 119,385,960 (GRCm39)		probably null	Het
Fhod3	C	T	18: 25,199,401 (GRCm39)	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989 (GRCm38)	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,112,831 (GRCm39)	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,729,523 (GRCm39)	T648I	probably benign	Het
Gm4222	T	A	2: 89,978,889 (GRCm39)		probably benign	Het
Gm5475	G	A	15: 100,322,096 (GRCm39)		probably benign	Het
Jaml	C	A	9: 45,012,317 (GRCm39)	T268N	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Lrba	A	G	3: 86,549,969 (GRCm39)	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,212,897 (GRCm39)	S555P	probably benign	Het
Map3k15	T	A	X: 158,855,875 (GRCm39)	M350K	probably damaging	Het
Mipol1	C	A	12: 57,352,821 (GRCm39)	Y53*	probably null	Het
Mn1	A	G	5: 111,569,315 (GRCm39)	D1095G	probably damaging	Het
Nrn1	A	G	13: 36,914,190 (GRCm39)	C31R	probably damaging	Het
Nup210	A	T	6: 91,007,079 (GRCm39)	L579H	possibly damaging	Het
Nxf2	T	C	X: 133,851,145 (GRCm39)	I578V	probably benign	Het
Obscn	G	A	11: 58,969,178 (GRCm39)	A172V	probably damaging	Het
Or10h1b	T	A	17: 33,395,756 (GRCm39)	Y123N	probably damaging	Het
Or9g4	T	G	2: 85,504,841 (GRCm39)	Y218S	probably damaging	Het
Phtf1	A	G	3: 103,912,918 (GRCm39)	D748G	probably damaging	Het
Psd3	A	T	8: 68,361,187 (GRCm39)	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,581,167 (GRCm39)	T321I	probably benign	Het
Rassf6	T	C	5: 90,756,825 (GRCm39)	*31W	probably null	Het
Rictor	A	C	15: 6,807,749 (GRCm39)	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,321,104 (GRCm39)	M470I	probably damaging	Het
Tex28	A	T	X: 73,194,830 (GRCm39)	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,115,718 (GRCm39)	V163D	probably damaging	Het
Tmco3	G	A	8: 13,369,887 (GRCm39)	R633Q	possibly damaging	Het
Trf	A	T	9: 103,100,803 (GRCm39)	V224D	probably damaging	Het
Ttc8	C	T	12: 98,930,804 (GRCm39)	Q273*	probably null	Het
Usp9x	A	G	X: 12,970,815 (GRCm39)		probably benign	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,398,826 (GRCm39)	S718P	probably benign	Het
Vps13a	T	C	19: 16,617,989 (GRCm39)	D2932G	probably damaging	Het
Whamm	T	C	7: 81,245,662 (GRCm39)	L706P	probably damaging	Het
Yeats2	G	A	16: 20,033,143 (GRCm39)	V45I	probably damaging	Het
Yipf3	G	A	17: 46,561,383 (GRCm39)		probably null	Het
Zeb1	T	C	18: 5,705,061 (GRCm39)	V26A	possibly damaging	Het

Other mutations in Myh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21