Mutagenetix > Incidental Mutation

Incidental Mutation 'R1162:Myh4'

100495

Institutional Source

Beutler Lab

Gene Symbol

Myh4

Ensembl Gene

ENSMUSG00000057003

Gene Name

myosin, heavy polypeptide 4, skeletal muscle

Synonyms

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

MMRRC Submission

039235-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

R1162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67128855-67151272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67149439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1724 (N1724D)

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: N1724D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: N1724D

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: N1724D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: N1724D

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

0.9138

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

98% (55/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	C	4: 156,206,875 (GRCm39)		probably null	Het
Adamts12	T	A	15: 11,277,544 (GRCm39)		probably null	Het
Ccn3	T	A	15: 54,611,178 (GRCm39)	C104*	probably null	Het
Cops4	T	C	5: 100,678,023 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgkh	A	G	14: 78,861,891 (GRCm39)	C125R	probably damaging	Het
Dgkz	A	T	2: 91,774,789 (GRCm39)	I65N	probably damaging	Het
Dock10	T	A	1: 80,546,559 (GRCm39)	H743L	possibly damaging	Het
Dscaml1	T	C	9: 45,663,647 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gbe1	A	T	16: 70,178,738 (GRCm39)		probably benign	Het
Gm7275	A	G	16: 47,894,395 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 35,002,905 (GRCm39)		probably benign	Het
Gpr137c	A	G	14: 45,481,615 (GRCm39)	I144V	possibly damaging	Het
Igsf9b	T	C	9: 27,238,185 (GRCm39)	S563P	probably benign	Het
Insl5	C	T	4: 102,875,438 (GRCm39)	R104Q	probably benign	Het
Kcnj2	T	A	11: 110,963,793 (GRCm39)	V395D	probably benign	Het
Ksr2	A	G	5: 117,693,020 (GRCm39)		probably benign	Het
Lrrc4	C	A	6: 28,831,083 (GRCm39)	L177F	probably damaging	Het
Mapkbp1	A	G	2: 119,855,799 (GRCm39)	E1506G	possibly damaging	Het
Morc3	A	C	16: 93,649,996 (GRCm39)	Y259S	probably damaging	Het
Mrpl43	T	G	19: 44,994,797 (GRCm39)	S13R	possibly damaging	Het
Nab1	A	G	1: 52,529,186 (GRCm39)	M237T	probably damaging	Het
Nav2	A	G	7: 49,185,788 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2h15	A	T	17: 38,441,984 (GRCm39)	V33D	possibly damaging	Het
Or5ac15	T	C	16: 58,939,735 (GRCm39)	R233G	probably damaging	Het
Or5p80	A	G	7: 108,230,120 (GRCm39)	N307S	probably benign	Het
Phf2	A	T	13: 48,973,117 (GRCm39)		probably benign	Het
Ppef2	A	C	5: 92,400,980 (GRCm39)	F13L	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Sap130	C	T	18: 31,781,226 (GRCm39)	P130S	probably damaging	Het
Scn11a	A	G	9: 119,634,710 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,506,087 (GRCm39)	E940*	probably null	Het
Sgce	A	G	6: 4,691,419 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,600 (GRCm39)	I155N	probably damaging	Het
Sirt2	A	T	7: 28,485,247 (GRCm39)	D218V	probably damaging	Het
Slc16a10	T	C	10: 39,952,549 (GRCm39)	H315R	probably benign	Het
Sox5	A	G	6: 143,906,538 (GRCm39)	Y306H	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,483 (GRCm39)	V23A	probably damaging	Het
Trak1	G	T	9: 121,282,407 (GRCm39)	V429F	possibly damaging	Het
Trat1	T	C	16: 48,560,572 (GRCm39)	S102G	possibly damaging	Het
Trub1	G	A	19: 57,461,191 (GRCm39)	V156I	probably benign	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Unc13a	T	A	8: 72,100,561 (GRCm39)	T1076S	probably benign	Het
Vangl2	A	G	1: 171,832,414 (GRCm39)	Y481H	probably damaging	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r60	A	T	7: 41,845,195 (GRCm39)	I853F	probably benign	Het
Yrdc	T	C	4: 124,748,254 (GRCm39)		probably benign	Het
Zfp595	A	T	13: 67,465,259 (GRCm39)	C335S	probably damaging	Het
Zfp872	A	G	9: 22,110,910 (GRCm39)	S149G	possibly damaging	Het

Other mutations in Myh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01471:Myh4	APN	11	67,146,205 (GRCm39)	missense	probably damaging	1.00
IGL01600:Myh4	APN	11	67,151,015 (GRCm39)	missense	possibly damaging	0.85
IGL01737:Myh4	APN	11	67,134,245 (GRCm39)	splice site	probably benign
IGL02208:Myh4	APN	11	67,142,760 (GRCm39)	missense	possibly damaging	0.96
IGL02334:Myh4	APN	11	67,136,373 (GRCm39)	missense	probably damaging	1.00
IGL02376:Myh4	APN	11	67,136,554 (GRCm39)	missense	probably benign	0.00
IGL02429:Myh4	APN	11	67,149,808 (GRCm39)	nonsense	probably null
IGL02450:Myh4	APN	11	67,142,635 (GRCm39)	missense	probably damaging	1.00
IGL02524:Myh4	APN	11	67,140,066 (GRCm39)	missense	possibly damaging	0.79
IGL02612:Myh4	APN	11	67,147,305 (GRCm39)	missense	probably benign
IGL03024:Myh4	APN	11	67,139,305 (GRCm39)	missense	probably damaging	1.00
IGL03065:Myh4	APN	11	67,149,982 (GRCm39)	missense	probably benign	0.12
IGL03084:Myh4	APN	11	67,142,777 (GRCm39)	splice site	probably null
IGL03188:Myh4	APN	11	67,137,369 (GRCm39)	critical splice donor site	probably null
IGL03204:Myh4	APN	11	67,141,122 (GRCm39)	missense	possibly damaging	0.63
IGL03252:Myh4	APN	11	67,143,042 (GRCm39)	missense	probably damaging	0.99
IGL03345:Myh4	APN	11	67,146,304 (GRCm39)	missense	probably damaging	1.00
Mr_chicken	UTSW	11	67,140,711 (GRCm39)	missense	possibly damaging	0.74
Mrs_muir	UTSW	11	67,136,339 (GRCm39)	missense	probably damaging	1.00
Willies	UTSW	11	67,132,335 (GRCm39)	missense	probably damaging	1.00
F6893:Myh4	UTSW	11	67,146,283 (GRCm39)	missense	probably null	0.12
PIT1430001:Myh4	UTSW	11	67,149,658 (GRCm39)	missense	probably benign	0.01
PIT4458001:Myh4	UTSW	11	67,131,821 (GRCm39)	missense	possibly damaging	0.56
R0099:Myh4	UTSW	11	67,150,173 (GRCm39)	missense	probably benign
R0194:Myh4	UTSW	11	67,143,162 (GRCm39)	missense	probably damaging	1.00
R0346:Myh4	UTSW	11	67,151,152 (GRCm39)	missense	probably benign
R0427:Myh4	UTSW	11	67,149,479 (GRCm39)	missense	probably damaging	0.98
R0483:Myh4	UTSW	11	67,143,123 (GRCm39)	missense	probably damaging	1.00
R0571:Myh4	UTSW	11	67,141,157 (GRCm39)	missense	possibly damaging	0.91
R0854:Myh4	UTSW	11	67,149,973 (GRCm39)	missense	possibly damaging	0.90
R0940:Myh4	UTSW	11	67,133,689 (GRCm39)	missense	probably damaging	1.00
R0946:Myh4	UTSW	11	67,142,577 (GRCm39)	missense	possibly damaging	0.70
R1108:Myh4	UTSW	11	67,146,532 (GRCm39)	missense	probably null	0.01
R1194:Myh4	UTSW	11	67,146,560 (GRCm39)	critical splice donor site	probably null
R1347:Myh4	UTSW	11	67,135,567 (GRCm39)	splice site	probably benign
R1457:Myh4	UTSW	11	67,139,287 (GRCm39)	missense	probably damaging	0.99
R1531:Myh4	UTSW	11	67,141,366 (GRCm39)	missense	probably benign	0.01
R1716:Myh4	UTSW	11	67,141,135 (GRCm39)	missense	possibly damaging	0.92
R1766:Myh4	UTSW	11	67,147,121 (GRCm39)	missense	possibly damaging	0.61
R1796:Myh4	UTSW	11	67,151,150 (GRCm39)	missense	probably benign
R1856:Myh4	UTSW	11	67,146,508 (GRCm39)	missense	probably damaging	1.00
R1873:Myh4	UTSW	11	67,145,569 (GRCm39)	missense	probably benign	0.16
R2069:Myh4	UTSW	11	67,137,192 (GRCm39)	splice site	probably benign
R2370:Myh4	UTSW	11	67,146,454 (GRCm39)	missense	probably damaging	1.00
R2406:Myh4	UTSW	11	67,150,000 (GRCm39)	missense	probably damaging	1.00
R2414:Myh4	UTSW	11	67,141,594 (GRCm39)	missense	probably benign	0.01
R2848:Myh4	UTSW	11	67,139,459 (GRCm39)	missense	probably benign	0.20
R3111:Myh4	UTSW	11	67,137,276 (GRCm39)	missense	possibly damaging	0.86
R3744:Myh4	UTSW	11	67,146,141 (GRCm39)	missense	probably damaging	1.00
R3845:Myh4	UTSW	11	67,149,931 (GRCm39)	missense	possibly damaging	0.90
R3877:Myh4	UTSW	11	67,148,009 (GRCm39)	missense	probably benign	0.00
R4498:Myh4	UTSW	11	67,142,578 (GRCm39)	missense	probably damaging	1.00
R4514:Myh4	UTSW	11	67,146,395 (GRCm39)	missense	probably benign	0.06
R4601:Myh4	UTSW	11	67,141,136 (GRCm39)	missense	possibly damaging	0.94
R4673:Myh4	UTSW	11	67,137,227 (GRCm39)	missense	probably benign	0.02
R4684:Myh4	UTSW	11	67,136,637 (GRCm39)	missense	probably damaging	0.99
R4736:Myh4	UTSW	11	67,131,746 (GRCm39)	missense	probably benign	0.01
R4837:Myh4	UTSW	11	67,149,818 (GRCm39)	missense	probably benign	0.38
R4866:Myh4	UTSW	11	67,139,453 (GRCm39)	missense	probably benign	0.00
R4869:Myh4	UTSW	11	67,143,490 (GRCm39)	missense	probably damaging	1.00
R4887:Myh4	UTSW	11	67,131,880 (GRCm39)	missense	probably damaging	0.99
R4921:Myh4	UTSW	11	67,144,854 (GRCm39)	missense	probably damaging	1.00
R5005:Myh4	UTSW	11	67,144,241 (GRCm39)	missense	probably benign	0.05
R5008:Myh4	UTSW	11	67,144,358 (GRCm39)	missense	probably benign	0.00
R5011:Myh4	UTSW	11	67,147,189 (GRCm39)	missense	probably benign	0.03
R5087:Myh4	UTSW	11	67,146,235 (GRCm39)	missense	probably damaging	1.00
R5277:Myh4	UTSW	11	67,143,180 (GRCm39)	missense	probably damaging	1.00
R5336:Myh4	UTSW	11	67,150,017 (GRCm39)	splice site	probably null
R5354:Myh4	UTSW	11	67,146,551 (GRCm39)	missense	possibly damaging	0.69
R5371:Myh4	UTSW	11	67,150,150 (GRCm39)	missense	probably damaging	1.00
R5484:Myh4	UTSW	11	67,142,644 (GRCm39)	missense	probably damaging	1.00
R5774:Myh4	UTSW	11	67,144,034 (GRCm39)	nonsense	probably null
R5902:Myh4	UTSW	11	67,141,733 (GRCm39)	missense	possibly damaging	0.69
R5941:Myh4	UTSW	11	67,150,126 (GRCm39)	missense	probably damaging	0.99
R6045:Myh4	UTSW	11	67,135,550 (GRCm39)	missense	probably benign	0.32
R6156:Myh4	UTSW	11	67,141,618 (GRCm39)	missense	probably benign	0.00
R6301:Myh4	UTSW	11	67,146,159 (GRCm39)	missense	possibly damaging	0.95
R6318:Myh4	UTSW	11	67,134,268 (GRCm39)	missense	probably benign	0.02
R6352:Myh4	UTSW	11	67,143,108 (GRCm39)	missense	probably damaging	1.00
R6385:Myh4	UTSW	11	67,146,663 (GRCm39)	missense	probably damaging	1.00
R6493:Myh4	UTSW	11	67,149,455 (GRCm39)	missense	probably benign	0.16
R6666:Myh4	UTSW	11	67,142,638 (GRCm39)	missense	probably damaging	1.00
R6826:Myh4	UTSW	11	67,137,357 (GRCm39)	missense	probably damaging	1.00
R6852:Myh4	UTSW	11	67,143,794 (GRCm39)	splice site	probably null
R6857:Myh4	UTSW	11	67,140,711 (GRCm39)	missense	possibly damaging	0.74
R7029:Myh4	UTSW	11	67,137,251 (GRCm39)	missense	probably benign	0.40
R7076:Myh4	UTSW	11	67,143,999 (GRCm39)	missense	possibly damaging	0.85
R7145:Myh4	UTSW	11	67,151,054 (GRCm39)	missense	possibly damaging	0.54
R7179:Myh4	UTSW	11	67,135,550 (GRCm39)	missense	probably benign	0.32
R7365:Myh4	UTSW	11	67,133,674 (GRCm39)	missense	probably damaging	1.00
R7514:Myh4	UTSW	11	67,134,148 (GRCm39)	critical splice donor site	probably null
R7553:Myh4	UTSW	11	67,147,221 (GRCm39)	missense	probably damaging	0.99
R7666:Myh4	UTSW	11	67,147,107 (GRCm39)	missense	probably damaging	0.99
R7673:Myh4	UTSW	11	67,136,339 (GRCm39)	missense	probably damaging	1.00
R7685:Myh4	UTSW	11	67,131,756 (GRCm39)	missense	probably benign	0.13
R8154:Myh4	UTSW	11	67,144,200 (GRCm39)	missense	probably damaging	1.00
R8343:Myh4	UTSW	11	67,143,390 (GRCm39)	missense	possibly damaging	0.45
R8446:Myh4	UTSW	11	67,144,347 (GRCm39)	missense	probably benign	0.14
R8534:Myh4	UTSW	11	67,134,335 (GRCm39)	missense	probably benign	0.17
R8710:Myh4	UTSW	11	67,143,158 (GRCm39)	missense	probably benign
R8775:Myh4	UTSW	11	67,148,006 (GRCm39)	missense	probably benign	0.25
R8775-TAIL:Myh4	UTSW	11	67,148,006 (GRCm39)	missense	probably benign	0.25
R8852:Myh4	UTSW	11	67,132,335 (GRCm39)	missense	probably damaging	1.00
R8860:Myh4	UTSW	11	67,132,335 (GRCm39)	missense	probably damaging	1.00
R8897:Myh4	UTSW	11	67,137,362 (GRCm39)	missense	possibly damaging	0.90
R8954:Myh4	UTSW	11	67,143,806 (GRCm39)	missense	possibly damaging	0.95
R8957:Myh4	UTSW	11	67,141,780 (GRCm39)	missense	possibly damaging	0.78
R9065:Myh4	UTSW	11	67,139,573 (GRCm39)	missense	probably benign
R9280:Myh4	UTSW	11	67,146,135 (GRCm39)	missense	probably damaging	0.96
R9296:Myh4	UTSW	11	67,146,130 (GRCm39)	missense	possibly damaging	0.95
R9310:Myh4	UTSW	11	67,145,570 (GRCm39)	missense	probably damaging	1.00
R9314:Myh4	UTSW	11	67,151,141 (GRCm39)	missense	probably benign	0.01
R9462:Myh4	UTSW	11	67,141,811 (GRCm39)	missense	possibly damaging	0.93
R9516:Myh4	UTSW	11	67,141,129 (GRCm39)	missense	probably damaging	1.00
R9516:Myh4	UTSW	11	67,139,290 (GRCm39)	missense	probably damaging	0.99
R9773:Myh4	UTSW	11	67,137,263 (GRCm39)	missense	probably damaging	1.00
X0027:Myh4	UTSW	11	67,137,306 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67,147,097 (GRCm39)	missense	probably benign	0.02
Z1176:Myh4	UTSW	11	67,144,331 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67,139,467 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15