Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Myh14'

595040

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7718 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44605803-44670843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44661040 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 140 (V140I)

Ref Sequence

ENSEMBL: ENSMUSP00000147115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048102] [ENSMUST00000107899] [ENSMUST00000107900] [ENSMUST00000207775] [ENSMUST00000208131]

AlphaFold

Q6URW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048102
AA Change: V140I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046059
Gene: ENSMUSG00000030739
AA Change: V140I

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: V140I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103531
Gene: ENSMUSG00000030739
AA Change: V140I

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

possibly damaging
Transcript: ENSMUST00000107900
AA Change: V140I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103532
Gene: ENSMUSG00000030739
AA Change: V140I

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

possibly damaging
Transcript: ENSMUST00000182648
AA Change: V140I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138739
Gene: ENSMUSG00000030739
AA Change: V140I

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 damaging
Transcript: ENSMUST00000207775
AA Change: V140I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000208131

Meta Mutation Damage Score

0.1266

Coding Region Coverage

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

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	A	6: 50,589,098		probably null	Het
9530053A07Rik	T	C	7: 28,147,201	F1106S	probably damaging	Het
A430033K04Rik	A	T	5: 138,647,860	H669L	possibly damaging	Het
A930017K11Rik	T	A	17: 25,947,024	R430*	probably null	Het
Abcb1a	A	T	5: 8,715,788	N700I	probably damaging	Het
Abcc6	T	C	7: 45,977,392	K1414E	possibly damaging	Het
Adcy5	T	C	16: 35,280,415	V779A	probably benign	Het
Agap2	A	G	10: 127,079,865	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,323	N864S	probably damaging	Het
Ang2	A	T	14: 51,195,760	V55E	probably benign	Het
Ank2	A	G	3: 126,965,013	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,740,183	C1090*	probably null	Het
Atxn1l	A	G	8: 109,733,234	L132P	probably damaging	Het
Bptf	A	G	11: 107,081,456	V862A	possibly damaging	Het
Capn11	C	A	17: 45,643,781	K143N	probably damaging	Het
Card6	A	G	15: 5,099,787	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,128	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,767,338	N511Y	probably benign	Het
Dsc2	A	T	18: 20,041,778	I480N	probably damaging	Het
Elf2	G	T	3: 51,265,964		probably benign	Het
Enoph1	T	C	5: 100,062,160	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,554,191	D186E	probably benign	Het
Fam196b	T	C	11: 34,402,539	S194P	probably benign	Het
Gfra1	T	C	19: 58,453,457	D14G	possibly damaging	Het
Gm9573	T	C	17: 35,622,836	T153A	unknown	Het
Gmip	C	T	8: 69,817,733	R698W	probably damaging	Het
Grk4	A	G	5: 34,694,816	N135D	probably benign	Het
Hspb6	A	G	7: 30,554,347	D95G	probably benign	Het
Htatip2	T	G	7: 49,770,884	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,969,036	E1264G	probably benign	Het
Katnb1	T	A	8: 95,095,208	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 130,013,352		probably null	Het
Masp2	C	T	4: 148,602,747	R29C	probably damaging	Het
Mcm3	A	T	1: 20,817,274	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420	V2225A	probably damaging	Het
Me1	A	G	9: 86,679,900	L44S	probably damaging	Het
Mlxip	A	G	5: 123,445,514	N380S	probably benign	Het
Myocd	A	T	11: 65,218,626	D106E	probably damaging	Het
Oat	T	C	7: 132,558,259	I411V	probably benign	Het
Olfr1085	A	G	2: 86,658,029	V143A	probably benign	Het
Olfr483	T	C	7: 108,103,648	V113A	probably benign	Het
Olfr715	A	T	7: 107,128,718	V225D	probably damaging	Het
Orc2	A	T	1: 58,480,317	H246Q	possibly damaging	Het
Pank4	A	G	4: 154,974,643	E411G	probably damaging	Het
Patl2	A	T	2: 122,126,774		probably null	Het
Pcdhb15	A	G	18: 37,475,163	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,505,651	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,317,999	C125R	probably damaging	Het
Peli3	C	G	19: 4,934,556		probably null	Het
Pkd1	A	G	17: 24,586,500	D3313G	probably benign	Het
Plec	A	C	15: 76,177,439	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,498,162	V99M	probably damaging	Het
Psg19	G	A	7: 18,792,443	A374V	probably benign	Het
Psmd7	A	T	8: 107,586,629	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,720,988	G397R	probably null	Het
Ranbp3	A	G	17: 56,696,718	D39G	probably damaging	Het
Rcor3	T	C	1: 192,101,721	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,824,919	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968	N197S	possibly damaging	Het
Rpia	A	T	6: 70,766,618	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,871,825	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,342,497	K499M	probably damaging	Het
Slc5a4b	A	G	10: 76,070,573	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St7	A	C	6: 17,854,999	T312P	probably damaging	Het
Strbp	T	C	2: 37,625,282	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,376,980	T871P	probably benign	Het
Tcp1	T	A	17: 12,922,162	I286N	probably damaging	Het
Tead3	C	A	17: 28,333,517	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,563,440	T892S	probably benign	Het
Trmt2a	T	C	16: 18,250,623	S65P	probably benign	Het
Ubp1	A	G	9: 113,973,529	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,409,231	L18F	possibly damaging	Het
Uevld	T	G	7: 46,938,056	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,029,122	K874E	probably damaging	Het
Zbtb37	G	A	1: 161,032,232	R168W	possibly damaging	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
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
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'- CCACCTTCCAATGTATTACCAAGTC -3'
(R):5'- ACCAAGAGAACAAAGTAGCTTTATG -3'

Sequencing Primer
(F):5'- ATTACTCAAGCCTAGCCCTGG -3'
(R):5'- AACAAAGTAGCTTTATGTTGTCTGGG -3'

Posted On

2019-11-12