Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Myh14'

452490

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

NMHC II-C, 2400004E04Rik

MMRRC Submission

043344-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44605803-44670843 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 44643462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

probably null
Transcript: ENSMUST00000048102

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739

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 null
Transcript: ENSMUST00000107899

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739

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 null
Transcript: ENSMUST00000107900

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739

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 null
Transcript: ENSMUST00000107900

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739

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 null
Transcript: ENSMUST00000182648

SMART Domains

Protein: ENSMUSP00000138739
Gene: ENSMUSG00000030739

Domain	Start	End	E-Value	Type
low complexity region	62	80	N/A	INTRINSIC
MYSc	95	838	N/A	SMART
IQ	839	861	3.91e-4	SMART
Blast:MYSc	872	905	1e-12	BLAST
low complexity region	913	924	N/A	INTRINSIC
low complexity region	959	970	N/A	INTRINSIC
low complexity region	1038	1046	N/A	INTRINSIC
low complexity region	1054	1062	N/A	INTRINSIC
low complexity region	1063	1074	N/A	INTRINSIC
Pfam:Myosin_tail_1	1127	1984	9.1e-180	PFAM
low complexity region	1988	1999	N/A	INTRINSIC
low complexity region	2001	2030	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000207775

Predicted Effect

probably null
Transcript: ENSMUST00000208200

Predicted Effect

probably null
Transcript: ENSMUST00000208200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209087

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 128,236,660	K254E	probably damaging	Het
Aak1	C	T	6: 86,925,124	Q92*	probably null	Het
Acss3	T	C	10: 107,123,322	T88A	possibly damaging	Het
Adcy4	A	T	14: 55,783,661	S6R	probably damaging	Het
Aldh1l2	T	C	10: 83,512,306	E311G	possibly damaging	Het
Arhgap25	C	T	6: 87,463,459	S402N	probably benign	Het
Btn1a1	T	A	13: 23,459,352	D309V	probably damaging	Het
Cdh23	C	T	10: 60,407,480	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,710,535		probably benign	Het
Cln3	T	C	7: 126,575,501	T276A	probably null	Het
CN725425	A	G	15: 91,260,503	E523G	possibly damaging	Het
Cspg4	A	T	9: 56,885,904	T308S	probably damaging	Het
Dgkh	G	T	14: 78,624,902	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,443,132	D846G	probably damaging	Het
Fmo4	A	G	1: 162,808,259		probably null	Het
Foxp4	A	G	17: 47,869,108	Y623H	unknown	Het
Fxr2	T	C	11: 69,633,346	V10A	probably benign	Het
Gm10271	T	C	10: 116,956,887		probably null	Het
Gsk3b	T	C	16: 38,208,136		probably benign	Het
Ift43	T	A	12: 86,162,183	D169E	probably damaging	Het
Ift57	T	A	16: 49,699,498	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,896,674		probably benign	Het
Ispd	T	C	12: 36,547,830	V320A	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,509,147	D1140G	probably damaging	Het
Map1a	G	A	2: 121,305,065	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,351,332	G611C	probably damaging	Het
Mical1	A	G	10: 41,483,696		probably benign	Het
Myh8	T	A	11: 67,294,566	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,509,420	Q817K	probably benign	Het
Nin	A	C	12: 70,078,179	V123G	probably damaging	Het
Nup160	A	G	2: 90,717,851	D976G	probably damaging	Het
Nup210l	A	T	3: 90,129,207		probably null	Het
Olfr262	A	G	19: 12,241,280	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,538		probably benign	Het
Podxl2	T	C	6: 88,848,739	D400G	probably damaging	Het
Pygl	C	T	12: 70,191,142	W707*	probably null	Het
Rnf19b	T	C	4: 129,071,892	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,416,458	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,533,847	R569H	probably damaging	Het
Sdk2	A	G	11: 113,851,800	L761P	probably damaging	Het
Shroom3	C	T	5: 92,943,005	P1124S	probably benign	Het
Sirt4	A	G	5: 115,479,646	V317A	probably benign	Het
Slc12a2	G	T	18: 57,896,354	A271S	probably benign	Het
Slc6a9	A	G	4: 117,864,013	Y208C	probably damaging	Het
Snap23	T	A	2: 120,584,271		probably benign	Het
Sra1	C	T	18: 36,670,173		probably benign	Het
Srbd1	C	T	17: 86,120,729	D359N	possibly damaging	Het
Srp19	A	G	18: 34,331,773	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,396,083	S205P	probably damaging	Het
Sv2b	T	C	7: 75,124,214	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,267,574	V518M	probably damaging	Het
Tlr4	A	G	4: 66,840,415	K482E	probably benign	Het
Tpm1	G	A	9: 67,023,412	L310F	probably damaging	Het
Trpm6	A	G	19: 18,853,617	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,505,317	L65*	probably null	Het
Ttc37	T	C	13: 76,118,347	Y238H	probably damaging	Het
Ttc39c	C	A	18: 12,697,935	A284D	probably damaging	Het
Txndc16	G	A	14: 45,165,764	H297Y	probably benign	Het
Utrn	A	T	10: 12,669,806	D1698E	probably benign	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,217,620	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,559,107	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,448,553	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,330,829	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,403,321	D2846E	probably benign	Het

Other mutations in Myh14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Myh14	APN	7	44606292	unclassified	probably benign
IGL01431:Myh14	APN	7	44614358	missense	probably null	0.00
IGL01722:Myh14	APN	7	44643532	missense	probably damaging	1.00
IGL01806:Myh14	APN	7	44657939	missense	probably benign	0.19
IGL02034:Myh14	APN	7	44616293	missense	possibly damaging	0.58
IGL02260:Myh14	APN	7	44611571	missense	probably damaging	1.00
IGL02590:Myh14	APN	7	44624079	missense	probably damaging	1.00
IGL02696:Myh14	APN	7	44665106	missense	probably damaging	1.00
IGL02705:Myh14	APN	7	44608536	missense	possibly damaging	0.66
IGL03193:Myh14	APN	7	44629945	missense	possibly damaging	0.91
PIT4581001:Myh14	UTSW	7	44613482	missense	probably benign	0.04
R0067:Myh14	UTSW	7	44623127	missense	probably benign	0.05
R0083:Myh14	UTSW	7	44634519	missense	probably damaging	0.98
R0108:Myh14	UTSW	7	44634519	missense	probably damaging	0.98
R0152:Myh14	UTSW	7	44623181	missense	probably damaging	1.00
R0369:Myh14	UTSW	7	44660950	missense	probably damaging	1.00
R0552:Myh14	UTSW	7	44613681	missense	probably damaging	1.00
R0699:Myh14	UTSW	7	44624971	missense	possibly damaging	0.67
R0763:Myh14	UTSW	7	44665367	missense	probably damaging	0.98
R1079:Myh14	UTSW	7	44630002	missense	probably damaging	1.00
R1388:Myh14	UTSW	7	44665122	missense	probably damaging	0.98
R1432:Myh14	UTSW	7	44616299	missense	probably damaging	1.00
R1568:Myh14	UTSW	7	44611698	nonsense	probably null
R1579:Myh14	UTSW	7	44655694	splice site	probably null
R1598:Myh14	UTSW	7	44638394	missense	probably damaging	0.96
R1848:Myh14	UTSW	7	44632429	missense	probably damaging	0.98
R1869:Myh14	UTSW	7	44611643	missense	possibly damaging	0.95
R1917:Myh14	UTSW	7	44657925	missense	probably benign
R1933:Myh14	UTSW	7	44615348	missense	probably benign	0.09
R1984:Myh14	UTSW	7	44639022	missense	probably damaging	1.00
R2154:Myh14	UTSW	7	44652429	critical splice donor site	probably null
R2190:Myh14	UTSW	7	44661063	missense	probably damaging	1.00
R2217:Myh14	UTSW	7	44634376	missense	probably damaging	1.00
R2239:Myh14	UTSW	7	44665183	missense	probably damaging	1.00
R2918:Myh14	UTSW	7	44616263	missense	possibly damaging	0.91
R4091:Myh14	UTSW	7	44632991	missense	possibly damaging	0.93
R4110:Myh14	UTSW	7	44628550	missense	probably benign	0.00
R4199:Myh14	UTSW	7	44615503	nonsense	probably null
R4507:Myh14	UTSW	7	44629991	missense	probably benign	0.00
R4539:Myh14	UTSW	7	44627054	missense	probably damaging	1.00
R4550:Myh14	UTSW	7	44634433	missense	probably damaging	1.00
R4673:Myh14	UTSW	7	44624330	missense	probably damaging	1.00
R4768:Myh14	UTSW	7	44613675	missense	probably benign	0.19
R4832:Myh14	UTSW	7	44625142	missense	probably benign	0.31
R4853:Myh14	UTSW	7	44608448	missense	probably damaging	1.00
R4901:Myh14	UTSW	7	44661040	missense	probably damaging	1.00
R4928:Myh14	UTSW	7	44635502	missense	probably benign	0.00
R5070:Myh14	UTSW	7	44616248	missense	possibly damaging	0.91
R5166:Myh14	UTSW	7	44628855	missense	probably damaging	0.99
R5786:Myh14	UTSW	7	44613463	missense	probably benign	0.23
R5895:Myh14	UTSW	7	44606709	missense	probably damaging	1.00
R5961:Myh14	UTSW	7	44623094	missense	probably damaging	0.96
R6014:Myh14	UTSW	7	44625078	missense	probably null
R6080:Myh14	UTSW	7	44655611	missense	probably damaging	1.00
R6187:Myh14	UTSW	7	44627033	missense	probably damaging	1.00
R6657:Myh14	UTSW	7	44637846	missense	probably damaging	1.00
R6833:Myh14	UTSW	7	44624379	nonsense	probably null
R6894:Myh14	UTSW	7	44633512	missense	probably damaging	1.00
R6916:Myh14	UTSW	7	44629313	missense	probably damaging	0.96
R6962:Myh14	UTSW	7	44657939	missense	probably benign	0.36
R7066:Myh14	UTSW	7	44630755	missense	possibly damaging	0.69
R7261:Myh14	UTSW	7	44624337	nonsense	probably null
R7303:Myh14	UTSW	7	44611701	missense	probably damaging	1.00
R7304:Myh14	UTSW	7	44629991	missense	probably benign	0.00
R7327:Myh14	UTSW	7	44611553	missense	possibly damaging	0.53
R7380:Myh14	UTSW	7	44661042	missense	probably damaging	1.00
R7570:Myh14	UTSW	7	44632426	missense	probably benign	0.37
R7622:Myh14	UTSW	7	44632422	missense	probably benign	0.25
R7681:Myh14	UTSW	7	44624148	missense	possibly damaging	0.81
R7718:Myh14	UTSW	7	44661040	missense	probably damaging	1.00
R7910:Myh14	UTSW	7	44632395	missense	probably damaging	1.00
R8054:Myh14	UTSW	7	44625127	missense	probably damaging	0.97
R8088:Myh14	UTSW	7	44665496	start codon destroyed	probably null	0.94
R8164:Myh14	UTSW	7	44625033	missense	probably benign	0.01
R8260:Myh14	UTSW	7	44615376	missense	probably damaging	1.00
R8299:Myh14	UTSW	7	44627048	missense	probably damaging	1.00
R8410:Myh14	UTSW	7	44633483	missense	probably damaging	1.00
R8723:Myh14	UTSW	7	44622983	missense	probably damaging	1.00
R8853:Myh14	UTSW	7	44616254	missense	probably benign	0.08
R8934:Myh14	UTSW	7	44657428	missense	probably benign
R9169:Myh14	UTSW	7	44621857	missense	possibly damaging	0.73
R9395:Myh14	UTSW	7	44625160	missense	possibly damaging	0.66
R9451:Myh14	UTSW	7	44624319	critical splice donor site	probably null
X0026:Myh14	UTSW	7	44614394	missense	probably benign	0.00
X0063:Myh14	UTSW	7	44624133	missense	probably damaging	1.00
Z1176:Myh14	UTSW	7	44608515	missense	probably damaging	1.00
Z1176:Myh14	UTSW	7	44638309	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGGGCTGTCTACCTATCATG -3'
(R):5'- TGCAGTTTGAAAGGCTTAGCTG -3'

Sequencing Primer
(F):5'- GCTGTCTACCTATCATGGTGGG -3'
(R):5'- CTCTGGGGTACTGGACATGAC -3'

Posted On

2017-01-03