Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Myh4'

206148

Institutional Source

Beutler Lab

Gene Symbol

Myh4

Ensembl Gene

ENSMUSG00000057003

Gene Name

myosin, heavy polypeptide 4, skeletal muscle

Synonyms

MM, Minimsc, MYH-2B, MyHC-IIb, Minmus, MHC2B, Myhsf

MMRRC Submission

039880-MU

Accession Numbers

Genbank: NM_010855; MGI: 1339713

Essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R1856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67238029-67260446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67255682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1494 (E1494K)

Ref Sequence

ENSEMBL: ENSMUSP00000127514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018632] [ENSMUST00000170942]

AlphaFold

Q5SX39

Predicted Effect

probably damaging
Transcript: ENSMUST00000018632
AA Change: E1494K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: E1494K

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	4.7e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	8.84e-3	SMART
Pfam:Myosin_tail_1	847	1928	2.5e-168	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170942
AA Change: E1494K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: E1494K

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-15	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	8.84e-3	SMART
low complexity region	928	942	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit decreased growth and muscle defects including reduced muscle mass, muscle fiber loss, compensatory fiber hypertrophy, and impaired strength. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,306,603	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atp13a2	C	T	4: 141,004,012	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Ctc1	T	A	11: 69,034,658	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,940,302	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pappa	A	T	4: 65,340,743	D1576V	probably damaging	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,632,311	M232T	probably benign	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	probably benign	Het

Other mutations in Myh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01471:Myh4	APN	11	67255379	missense	probably damaging	1.00
IGL01600:Myh4	APN	11	67260189	missense	possibly damaging	0.85
IGL01737:Myh4	APN	11	67243419	splice site	probably benign
IGL02208:Myh4	APN	11	67251934	missense	possibly damaging	0.96
IGL02334:Myh4	APN	11	67245547	missense	probably damaging	1.00
IGL02376:Myh4	APN	11	67245728	missense	probably benign	0.00
IGL02429:Myh4	APN	11	67258982	nonsense	probably null
IGL02450:Myh4	APN	11	67251809	missense	probably damaging	1.00
IGL02524:Myh4	APN	11	67249240	missense	possibly damaging	0.79
IGL02612:Myh4	APN	11	67256479	missense	probably benign
IGL03024:Myh4	APN	11	67248479	missense	probably damaging	1.00
IGL03065:Myh4	APN	11	67259156	missense	probably benign	0.12
IGL03084:Myh4	APN	11	67251951	splice site	probably null
IGL03188:Myh4	APN	11	67246543	critical splice donor site	probably null
IGL03204:Myh4	APN	11	67250296	missense	possibly damaging	0.63
IGL03252:Myh4	APN	11	67252216	missense	probably damaging	0.99
IGL03345:Myh4	APN	11	67255478	missense	probably damaging	1.00
Mr_chicken	UTSW	11	67249885	missense	possibly damaging	0.74
Mrs_muir	UTSW	11	67245513	missense	probably damaging	1.00
Willies	UTSW	11	67241509	missense	probably damaging	1.00
F6893:Myh4	UTSW	11	67255457	missense	probably null	0.12
PIT1430001:Myh4	UTSW	11	67258832	missense	probably benign	0.01
PIT4458001:Myh4	UTSW	11	67240995	missense	possibly damaging	0.56
R0099:Myh4	UTSW	11	67259347	missense	probably benign
R0194:Myh4	UTSW	11	67252336	missense	probably damaging	1.00
R0346:Myh4	UTSW	11	67260326	missense	probably benign
R0427:Myh4	UTSW	11	67258653	missense	probably damaging	0.98
R0483:Myh4	UTSW	11	67252297	missense	probably damaging	1.00
R0571:Myh4	UTSW	11	67250331	missense	possibly damaging	0.91
R0854:Myh4	UTSW	11	67259147	missense	possibly damaging	0.90
R0940:Myh4	UTSW	11	67242863	missense	probably damaging	1.00
R0946:Myh4	UTSW	11	67251751	missense	possibly damaging	0.70
R1108:Myh4	UTSW	11	67255706	missense	probably null	0.01
R1162:Myh4	UTSW	11	67258613	missense	probably damaging	0.97
R1194:Myh4	UTSW	11	67255734	critical splice donor site	probably null
R1347:Myh4	UTSW	11	67244741	splice site	probably benign
R1457:Myh4	UTSW	11	67248461	missense	probably damaging	0.99
R1531:Myh4	UTSW	11	67250540	missense	probably benign	0.01
R1716:Myh4	UTSW	11	67250309	missense	possibly damaging	0.92
R1766:Myh4	UTSW	11	67256295	missense	possibly damaging	0.61
R1796:Myh4	UTSW	11	67260324	missense	probably benign
R1873:Myh4	UTSW	11	67254743	missense	probably benign	0.16
R2069:Myh4	UTSW	11	67246366	splice site	probably benign
R2370:Myh4	UTSW	11	67255628	missense	probably damaging	1.00
R2406:Myh4	UTSW	11	67259174	missense	probably damaging	1.00
R2414:Myh4	UTSW	11	67250768	missense	probably benign	0.01
R2848:Myh4	UTSW	11	67248633	missense	probably benign	0.20
R3111:Myh4	UTSW	11	67246450	missense	possibly damaging	0.86
R3744:Myh4	UTSW	11	67255315	missense	probably damaging	1.00
R3845:Myh4	UTSW	11	67259105	missense	possibly damaging	0.90
R3877:Myh4	UTSW	11	67257183	missense	probably benign	0.00
R4498:Myh4	UTSW	11	67251752	missense	probably damaging	1.00
R4514:Myh4	UTSW	11	67255569	missense	probably benign	0.06
R4601:Myh4	UTSW	11	67250310	missense	possibly damaging	0.94
R4673:Myh4	UTSW	11	67246401	missense	probably benign	0.02
R4684:Myh4	UTSW	11	67245811	missense	probably damaging	0.99
R4736:Myh4	UTSW	11	67240920	missense	probably benign	0.01
R4837:Myh4	UTSW	11	67258992	missense	probably benign	0.38
R4866:Myh4	UTSW	11	67248627	missense	probably benign	0.00
R4869:Myh4	UTSW	11	67252664	missense	probably damaging	1.00
R4887:Myh4	UTSW	11	67241054	missense	probably damaging	0.99
R4921:Myh4	UTSW	11	67254028	missense	probably damaging	1.00
R5005:Myh4	UTSW	11	67253415	missense	probably benign	0.05
R5008:Myh4	UTSW	11	67253532	missense	probably benign	0.00
R5011:Myh4	UTSW	11	67256363	missense	probably benign	0.03
R5087:Myh4	UTSW	11	67255409	missense	probably damaging	1.00
R5277:Myh4	UTSW	11	67252354	missense	probably damaging	1.00
R5336:Myh4	UTSW	11	67259191	splice site	probably null
R5354:Myh4	UTSW	11	67255725	missense	possibly damaging	0.69
R5371:Myh4	UTSW	11	67259324	missense	probably damaging	1.00
R5484:Myh4	UTSW	11	67251818	missense	probably damaging	1.00
R5774:Myh4	UTSW	11	67253208	nonsense	probably null
R5902:Myh4	UTSW	11	67250907	missense	possibly damaging	0.69
R5941:Myh4	UTSW	11	67259300	missense	probably damaging	0.99
R6045:Myh4	UTSW	11	67244724	missense	probably benign	0.32
R6156:Myh4	UTSW	11	67250792	missense	probably benign	0.00
R6301:Myh4	UTSW	11	67255333	missense	possibly damaging	0.95
R6318:Myh4	UTSW	11	67243442	missense	probably benign	0.02
R6352:Myh4	UTSW	11	67252282	missense	probably damaging	1.00
R6385:Myh4	UTSW	11	67255837	missense	probably damaging	1.00
R6493:Myh4	UTSW	11	67258629	missense	probably benign	0.16
R6666:Myh4	UTSW	11	67251812	missense	probably damaging	1.00
R6826:Myh4	UTSW	11	67246531	missense	probably damaging	1.00
R6852:Myh4	UTSW	11	67252968	splice site	probably null
R6857:Myh4	UTSW	11	67249885	missense	possibly damaging	0.74
R7029:Myh4	UTSW	11	67246425	missense	probably benign	0.40
R7076:Myh4	UTSW	11	67253173	missense	possibly damaging	0.85
R7145:Myh4	UTSW	11	67260228	missense	possibly damaging	0.54
R7179:Myh4	UTSW	11	67244724	missense	probably benign	0.32
R7365:Myh4	UTSW	11	67242848	missense	probably damaging	1.00
R7514:Myh4	UTSW	11	67243322	critical splice donor site	probably null
R7553:Myh4	UTSW	11	67256395	missense	probably damaging	0.99
R7666:Myh4	UTSW	11	67256281	missense	probably damaging	0.99
R7673:Myh4	UTSW	11	67245513	missense	probably damaging	1.00
R7685:Myh4	UTSW	11	67240930	missense	probably benign	0.13
R8154:Myh4	UTSW	11	67253374	missense	probably damaging	1.00
R8343:Myh4	UTSW	11	67252564	missense	possibly damaging	0.45
R8446:Myh4	UTSW	11	67253521	missense	probably benign	0.14
R8534:Myh4	UTSW	11	67243509	missense	probably benign	0.17
R8710:Myh4	UTSW	11	67252332	missense	probably benign
R8775:Myh4	UTSW	11	67257180	missense	probably benign	0.25
R8775-TAIL:Myh4	UTSW	11	67257180	missense	probably benign	0.25
R8852:Myh4	UTSW	11	67241509	missense	probably damaging	1.00
R8860:Myh4	UTSW	11	67241509	missense	probably damaging	1.00
R8897:Myh4	UTSW	11	67246536	missense	possibly damaging	0.90
R8954:Myh4	UTSW	11	67252980	missense	possibly damaging	0.95
R8957:Myh4	UTSW	11	67250954	missense	possibly damaging	0.78
R9065:Myh4	UTSW	11	67248747	missense	probably benign
R9280:Myh4	UTSW	11	67255309	missense	probably damaging	0.96
R9296:Myh4	UTSW	11	67255304	missense	possibly damaging	0.95
R9310:Myh4	UTSW	11	67254744	missense	probably damaging	1.00
R9314:Myh4	UTSW	11	67260315	missense	probably benign	0.01
R9462:Myh4	UTSW	11	67250985	missense	possibly damaging	0.93
R9516:Myh4	UTSW	11	67248464	missense	probably damaging	0.99
R9516:Myh4	UTSW	11	67250303	missense	probably damaging	1.00
R9773:Myh4	UTSW	11	67246437	missense	probably damaging	1.00
X0027:Myh4	UTSW	11	67246480	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67248641	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67253505	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67256271	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CGCTGCGCTTGATAAGAAGC -3'
(R):5'- AATCTGCTCGGTCAGGTCAG -3'

Sequencing Primer
(F):5'- AACTTTGACAAGGTGGCCC -3'
(R):5'- GAGATCTCCTCTGCGGAAGAAC -3'

Posted On

2014-06-23