Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Myh1'

226780

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

040072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67200052-67224575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67214620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1079 (D1079N)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

AlphaFold

Q5SX40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018637
AA Change: D1079N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: D1079N

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

possibly damaging
Transcript: ENSMUST00000075734
AA Change: D1079N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: D1079N

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

possibly damaging
Transcript: ENSMUST00000124516
AA Change: D1079N

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: D1079N

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

noncoding transcript
Transcript: ENSMUST00000145021

Meta Mutation Damage Score

0.1357

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Abca2	A	T	2: 25,437,505	I669F	possibly damaging	Het
Acin1	T	A	14: 54,665,254	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,921,755	D72V	probably benign	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Alpl	T	C	4: 137,749,545		probably benign	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Bod1l	G	A	5: 41,817,086	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,278,550		probably null	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Csmd1	A	G	8: 15,900,782	S3476P	probably benign	Het
Ddias	A	T	7: 92,859,699	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Espl1	T	C	15: 102,299,090	S330P	probably damaging	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Gc	T	A	5: 89,446,517	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,057,754	I178T	probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm3944	C	A	12: 18,853,894	S8*	probably null	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Gpr156	A	G	16: 37,978,751	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366	T89S	probably benign	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Krt4	C	A	15: 101,924,664	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622		probably benign	Het
Myo1a	A	G	10: 127,705,478	N43D	probably benign	Het
Napa	A	T	7: 16,115,278		probably benign	Het
Ndufa12	A	G	10: 94,220,707	D99G	probably damaging	Het
Neb	A	G	2: 52,284,263	I1528T	probably benign	Het
Nek1	T	C	8: 61,007,162	S41P	probably damaging	Het
Nolc1	C	T	19: 46,083,607	T612M	probably damaging	Het
Nsun5	T	G	5: 135,375,072	Y301D	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr1085	G	T	2: 86,658,437	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr397	A	G	11: 73,964,914	Y102C	probably damaging	Het
Olfr522	T	A	7: 140,162,909	I14F	possibly damaging	Het
Olfr910	T	A	9: 38,539,280	N128K	probably benign	Het
Osmr	T	C	15: 6,815,415	N957D	probably benign	Het
Parn	G	A	16: 13,603,069	S473L	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,099,611	S1283P	probably damaging	Het
Pole2	G	A	12: 69,228,152	R5W	probably benign	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,389		probably benign	Het
Rapgef3	C	A	15: 97,766,961	G7V	probably damaging	Het
Ripor1	T	A	8: 105,617,708	S491R	probably benign	Het
Rnf141	A	G	7: 110,821,365		probably benign	Het
Ryr3	C	T	2: 112,946,957	R285Q	probably damaging	Het
Sall4	T	C	2: 168,756,545	N125S	probably benign	Het
Schip1	A	G	3: 68,617,786	K360R	probably damaging	Het
Senp6	T	A	9: 80,089,869	V55E	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc25a16	T	A	10: 62,932,751	H130Q	probably benign	Het
Styx	T	C	14: 45,373,563	V217A	probably benign	Het
Syne2	G	A	12: 75,888,342		probably null	Het
Tagap1	A	G	17: 6,956,860	S146P	probably benign	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,580,551	L135P	probably damaging	Het
Tmc1	A	G	19: 20,824,309	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,797,727	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,680,382	R16H	possibly damaging	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 89,104,489	E803G	probably benign	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Ugt2b35	A	G	5: 87,001,553	D221G	probably damaging	Het
Unc45b	G	A	11: 82,911,689	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,634,337	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,853,510	N129S	probably benign	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	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
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
R7283:Myh1	UTSW	11	67201844	critical splice acceptor site	probably null
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'- CTCAGCCTGGGACAAAAGTG -3'
(R):5'- ATAGAAGCCATGGTTGTACCTG -3'

Sequencing Primer
(F):5'- CCTGGGACAAAAGTGCTAGTCTTG -3'
(R):5'- GCCATGGTTGTACCTGCAACTC -3'

Posted On

2014-09-17