Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Myh4'

34288

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

038553-MU

Accession Numbers

Genbank: NM_010855; MGI: 1339713

Is this an essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67238029-67260446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67260326 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1936 (I1936L)

Ref Sequence

ENSEMBL: ENSMUSP00000127514 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000018632
AA Change: I1936L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: I1936L

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 benign
Transcript: ENSMUST00000170942
AA Change: I1936L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: I1936L

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

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	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
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
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
R1856:Myh4	UTSW	11	67255682	missense	probably damaging	1.00
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
X0027:Myh4	UTSW	11	67246480	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67248641	missense	not run
Z1176:Myh4	UTSW	11	67253505	missense	not run
Z1176:Myh4	UTSW	11	67256271	missense	not run

Predicted Primers

PCR Primer
(F):5'- GGGCAGGGACAGTGTAAGCATATTC -3'
(R):5'- TGCACGTAGTAGGCACTCAGCAAG -3'

Sequencing Primer
(F):5'- ACTTCTTTTAGCAGCAAAGGC -3'
(R):5'- GTGTTTAAGAAATAAATTGGCCCCC -3'

Posted On

2013-05-09