Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Myh1'

565809

Institutional Source

Beutler Lab

Gene Symbol

Myh1

Ensembl Gene

ENSMUSG00000056328

Gene Name

myosin, heavy polypeptide 1, skeletal muscle, adult

Synonyms

A530084A17Rik, Myhsf2, Myhs-f2, Myhs-f, IId/x, IId, myosin heavy chain 2X, MYHC-IIX, MyHC-IId/x

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67200052-67224575 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 67201844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018637] [ENSMUST00000018637] [ENSMUST00000018641] [ENSMUST00000075734] [ENSMUST00000124516] [ENSMUST00000129018] [ENSMUST00000170159]

AlphaFold

Q5SX40

Predicted Effect

probably null
Transcript: ENSMUST00000018637

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000018637

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000018641

SMART Domains

Protein: ENSMUSP00000018641
Gene: ENSMUSG00000033196

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.1e-16	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	3.13e-3	SMART
IQ	813	835	3.14e2	SMART
low complexity region	850	862	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075734

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	7.2e-14	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
Pfam:Myosin_tail_1	850	1931	1.9e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124516

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129018

SMART Domains

Protein: ENSMUSP00000115583
Gene: ENSMUSG00000056328

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170159

SMART Domains

Protein: ENSMUSP00000129544
Gene: ENSMUSG00000033196

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	1.4e-14	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	3.13e-3	SMART
IQ	813	835	3.14e2	SMART
Pfam:Myosin_tail_1	850	1931	4e-166	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	Het

Other mutations in Myh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myh1	APN	11	67220865	missense	probably damaging	0.99
IGL00514:Myh1	APN	11	67219784	missense	probably damaging	1.00
IGL00851:Myh1	APN	11	67217910	missense	probably damaging	0.96
IGL01061:Myh1	APN	11	67217862	missense	probably benign	0.05
IGL01113:Myh1	APN	11	67202180	missense	probably benign	0.00
IGL01125:Myh1	APN	11	67220660	missense	probably benign
IGL01391:Myh1	APN	11	67217863	missense	probably benign	0.00
IGL01392:Myh1	APN	11	67221301	missense	probably benign	0.20
IGL01404:Myh1	APN	11	67222151	missense	possibly damaging	0.83
IGL01700:Myh1	APN	11	67211412	missense	probably damaging	1.00
IGL01739:Myh1	APN	11	67214528	missense	probably damaging	0.99
IGL01759:Myh1	APN	11	67219906	missense	probably damaging	1.00
IGL01922:Myh1	APN	11	67210466	critical splice donor site	probably null
IGL01952:Myh1	APN	11	67220392	splice site	probably null
IGL02007:Myh1	APN	11	67220556	missense	probably benign	0.03
IGL02028:Myh1	APN	11	67210615	missense	probably damaging	1.00
IGL02245:Myh1	APN	11	67211487	missense	possibly damaging	0.58
IGL02628:Myh1	APN	11	67206262	unclassified	probably benign
IGL02942:Myh1	APN	11	67202482	missense	probably damaging	1.00
IGL02967:Myh1	APN	11	67209070	missense	possibly damaging	0.76
IGL03031:Myh1	APN	11	67206387	missense	possibly damaging	0.47
IGL03187:Myh1	APN	11	67206525	missense	possibly damaging	0.56
IGL03302:Myh1	APN	11	67211502	missense	probably benign	0.01
compelling	UTSW	11	67219805	critical splice donor site	probably null
convincing	UTSW	11	67202539	missense	probably damaging	1.00
muscle	UTSW	11	67206048	nonsense	probably null
Persuasive	UTSW	11	67209064	missense	possibly damaging	0.90
G1patch:Myh1	UTSW	11	67201893	missense	probably damaging	1.00
R0041:Myh1	UTSW	11	67209078	missense	possibly damaging	0.88
R0079:Myh1	UTSW	11	67213411	missense	probably damaging	1.00
R0081:Myh1	UTSW	11	67215857	missense	probably benign
R0317:Myh1	UTSW	11	67217512	missense	probably damaging	1.00
R0465:Myh1	UTSW	11	67210417	missense	possibly damaging	0.50
R0528:Myh1	UTSW	11	67220619	missense	probably damaging	1.00
R0731:Myh1	UTSW	11	67202533	missense	probably damaging	0.98
R0964:Myh1	UTSW	11	67205925	missense	probably benign
R0964:Myh1	UTSW	11	67221604	missense	probably damaging	1.00
R1427:Myh1	UTSW	11	67219747	missense	probably damaging	0.99
R1429:Myh1	UTSW	11	67217910	missense	possibly damaging	0.78
R1481:Myh1	UTSW	11	67205499	unclassified	probably benign
R1562:Myh1	UTSW	11	67211370	missense	probably benign	0.04
R1727:Myh1	UTSW	11	67210466	critical splice donor site	probably benign
R1796:Myh1	UTSW	11	67224357	missense	probably benign	0.00
R1808:Myh1	UTSW	11	67211474	nonsense	probably null
R1836:Myh1	UTSW	11	67204822	missense	probably damaging	0.98
R1848:Myh1	UTSW	11	67213630	missense	probably benign	0.10
R1851:Myh1	UTSW	11	67204398	missense	probably damaging	1.00
R1925:Myh1	UTSW	11	67211170	missense	probably benign	0.01
R1967:Myh1	UTSW	11	67213447	missense	probably benign	0.08
R1999:Myh1	UTSW	11	67222408	missense	probably benign	0.04
R2067:Myh1	UTSW	11	67214620	missense	possibly damaging	0.83
R2111:Myh1	UTSW	11	67214620	missense	possibly damaging	0.83
R2150:Myh1	UTSW	11	67222408	missense	probably benign	0.04
R2189:Myh1	UTSW	11	67221604	missense	probably damaging	1.00
R2352:Myh1	UTSW	11	67220537	missense	probably benign	0.00
R2436:Myh1	UTSW	11	67213271	missense	probably benign	0.04
R2483:Myh1	UTSW	11	67211226	missense	probably benign
R2508:Myh1	UTSW	11	67213598	missense	possibly damaging	0.61
R2509:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R2511:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R2908:Myh1	UTSW	11	67220696	nonsense	probably null
R2966:Myh1	UTSW	11	67214584	missense	probably damaging	1.00
R3829:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R4106:Myh1	UTSW	11	67211577	missense	probably benign	0.33
R4108:Myh1	UTSW	11	67211577	missense	probably benign	0.33
R4457:Myh1	UTSW	11	67220615	missense	probably benign	0.42
R4629:Myh1	UTSW	11	67209293	missense	probably benign	0.01
R4981:Myh1	UTSW	11	67224474	utr 3 prime	probably benign
R5032:Myh1	UTSW	11	67206048	nonsense	probably null
R5239:Myh1	UTSW	11	67215225	missense	probably benign	0.19
R5241:Myh1	UTSW	11	67204449	missense	probably benign
R5303:Myh1	UTSW	11	67202017	missense	probably benign	0.09
R5666:Myh1	UTSW	11	67221352	missense	probably benign	0.30
R5717:Myh1	UTSW	11	67208956	missense	probably benign
R5761:Myh1	UTSW	11	67219252	missense	probably damaging	0.98
R5870:Myh1	UTSW	11	67201979	missense	possibly damaging	0.70
R6077:Myh1	UTSW	11	67211447	missense	probably damaging	1.00
R6089:Myh1	UTSW	11	67202167	splice site	probably null
R6089:Myh1	UTSW	11	67220787	splice site	probably null
R6197:Myh1	UTSW	11	67220967	missense	probably benign	0.01
R6460:Myh1	UTSW	11	67221376	missense	probably benign
R6627:Myh1	UTSW	11	67215009	missense	probably damaging	1.00
R6634:Myh1	UTSW	11	67209064	missense	possibly damaging	0.90
R6725:Myh1	UTSW	11	67201893	missense	probably damaging	1.00
R6784:Myh1	UTSW	11	67214570	missense	probably damaging	0.99
R6813:Myh1	UTSW	11	67220460	missense	probably benign	0.34
R6866:Myh1	UTSW	11	67224393	missense	probably damaging	0.99
R6997:Myh1	UTSW	11	67220637	missense	possibly damaging	0.94
R7028:Myh1	UTSW	11	67220421	missense	possibly damaging	0.64
R7133:Myh1	UTSW	11	67202586	missense	probably benign
R7185:Myh1	UTSW	11	67207459	missense	probably damaging	1.00
R7194:Myh1	UTSW	11	67211357	missense	probably benign
R7336:Myh1	UTSW	11	67220609	missense	probably benign	0.00
R7348:Myh1	UTSW	11	67202539	missense	probably damaging	1.00
R7369:Myh1	UTSW	11	67220698	missense	probably damaging	1.00
R7375:Myh1	UTSW	11	67210428	missense	probably damaging	1.00
R7384:Myh1	UTSW	11	67224375	missense	possibly damaging	0.46
R7387:Myh1	UTSW	11	67208889	missense	probably benign	0.14
R7424:Myh1	UTSW	11	67213663	missense	probably damaging	1.00
R7430:Myh1	UTSW	11	67205567	nonsense	probably null
R7443:Myh1	UTSW	11	67220505	missense	probably benign
R7447:Myh1	UTSW	11	67219180	missense	probably benign	0.01
R7509:Myh1	UTSW	11	67210461	missense	probably benign	0.40
R7583:Myh1	UTSW	11	67220913	missense	probably benign	0.00
R7611:Myh1	UTSW	11	67210417	missense	possibly damaging	0.50
R7617:Myh1	UTSW	11	67215875	missense	possibly damaging	0.94
R7727:Myh1	UTSW	11	67215922	missense	probably benign	0.00
R8029:Myh1	UTSW	11	67211240	critical splice donor site	probably null
R8042:Myh1	UTSW	11	67206603	missense	probably damaging	1.00
R8060:Myh1	UTSW	11	67215251	missense	probably benign
R8080:Myh1	UTSW	11	67211402	missense	probably benign	0.10
R8117:Myh1	UTSW	11	67222205	missense	probably damaging	1.00
R8171:Myh1	UTSW	11	67202572	missense	probably damaging	1.00
R8183:Myh1	UTSW	11	67202006	missense	possibly damaging	0.50
R8397:Myh1	UTSW	11	67221639	missense	probably damaging	0.97
R8545:Myh1	UTSW	11	67202201	missense	probably benign	0.00
R8807:Myh1	UTSW	11	67220528	missense	probably benign	0.02
R8812:Myh1	UTSW	11	67209141	missense	probably benign	0.00
R8855:Myh1	UTSW	11	67211421	missense	probably damaging	1.00
R8906:Myh1	UTSW	11	67205913	missense	probably benign	0.02
R8959:Myh1	UTSW	11	67211502	missense	probably benign
R8992:Myh1	UTSW	11	67205781	missense	probably benign
R9140:Myh1	UTSW	11	67209263	missense	probably benign	0.04
R9293:Myh1	UTSW	11	67209103	missense	probably benign	0.25
R9366:Myh1	UTSW	11	67219288	missense	probably damaging	1.00
R9371:Myh1	UTSW	11	67219805	critical splice donor site	probably null
R9378:Myh1	UTSW	11	67202433	missense	probably damaging	0.99
R9482:Myh1	UTSW	11	67217919	missense	probably damaging	1.00
R9507:Myh1	UTSW	11	67211223	missense	probably benign	0.00
R9558:Myh1	UTSW	11	67217792	missense	possibly damaging	0.90
R9561:Myh1	UTSW	11	67217792	missense	possibly damaging	0.90
R9587:Myh1	UTSW	11	67211370	missense	probably benign	0.03
X0062:Myh1	UTSW	11	67207541	missense	probably damaging	0.99
Z1177:Myh1	UTSW	11	67206318	missense	probably damaging	1.00
Z1187:Myh1	UTSW	11	67204446	missense	probably benign
Z1188:Myh1	UTSW	11	67204446	missense	probably benign
Z1190:Myh1	UTSW	11	67204446	missense	probably benign
Z1191:Myh1	UTSW	11	67204446	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGGCGAGCCACAAACAATTC -3'
(R):5'- GCACCGTTGCTTTTACAAAAG -3'

Sequencing Primer
(F):5'- GCATGATTAAGTACTTGTCAGCACTG -3'
(R):5'- ACCGTTGCTTTTACAAAAGACTCC -3'

Posted On

2019-06-26