Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Myh14'

585710

Institutional Source

Beutler Lab

Gene Symbol

Myh14

Ensembl Gene

ENSMUSG00000030739

Gene Name

myosin, heavy polypeptide 14

Synonyms

NMHC II-C, 2400004E04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44605803-44670843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44632426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 803 (I803V)

Ref Sequence

ENSEMBL: ENSMUSP00000103531 (fasta)

Gene Model

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

AlphaFold

Q6URW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048102
AA Change: I811V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: I811V

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 benign
Transcript: ENSMUST00000107899
AA Change: I803V

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: I803V

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: I811V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: I811V

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: I844V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000208200
AA Change: I489V

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610	T613I	probably benign	Het
9130019O22Rik	T	A	7: 127,385,283	S216C	probably benign	Het
Ajuba	T	C	14: 54,576,402	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383	V339M	unknown	Het
Cr2	G	A	1: 195,169,340	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,424,569	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,119,373	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699	Y594C	probably damaging	Het
Dph7	A	G	2: 24,965,630	D147G	probably damaging	Het
Drap1	T	C	19: 5,423,352	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059		probably null	Het
Fam208b	A	G	13: 3,573,621	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405		probably benign	Het
Fbn1	G	T	2: 125,397,852	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542		probably null	Het
Heatr4	T	C	12: 83,979,644	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775		probably null	Het
Ky	A	G	9: 102,542,329	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248		probably benign	Het
Magel2	A	G	7: 62,378,910	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674	W37*	probably null	Het
Ncor2	T	A	5: 125,030,089	T744S		Het
Ndufv3	A	G	17: 31,527,622	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379	E1288A	probably benign	Het
Olfr1205	A	G	2: 88,831,128	N4D	possibly damaging	Het
Olfr623	C	A	7: 103,660,881	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500		probably null	Het
Pcm1	T	G	8: 41,267,344	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748		probably null	Het
Prdm9	T	C	17: 15,555,652	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,031,574	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,320,473	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,531,395		probably null	Het
Serpina1a	A	T	12: 103,853,837	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164	D251E		Het
Stc2	G	T	11: 31,367,798	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592		probably benign	Het
Zfp110	T	A	7: 12,849,340	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013	T445A	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
R5726:Myh14	UTSW	7	44643462	critical splice donor site	probably null
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
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'- CCCCAACCTTTAGAACTCGG -3'
(R):5'- AGAAAGACGTTGCCTTGAGTCC -3'

Sequencing Primer
(F):5'- TTTAGAACTCGGGCAGCATAC -3'
(R):5'- TAGGGTCTGGACAGGGATCC -3'

Posted On

2019-10-17