Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Myh4'

678123

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67128855-67151272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67137362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 528 (E528K)

Ref Sequence

ENSEMBL: ENSMUSP00000127514 (fasta)

Gene Model

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

AlphaFold

Q5SX39

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018632
AA Change: E528K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: E528K

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

possibly damaging
Transcript: ENSMUST00000170942
AA Change: E528K

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: E528K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Ap4b1	A	T	3: 103,729,065 (GRCm39)	I736L	probably benign	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cacna1s	C	G	1: 136,045,392 (GRCm39)	T1680S	probably benign	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mc4r	A	G	18: 66,992,304 (GRCm39)	S270P	probably damaging	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sez6l	C	A	5: 112,588,744 (GRCm39)	Q656H	possibly damaging	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tab2	T	C	10: 7,786,897 (GRCm39)	D605G	probably damaging	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Thap12	T	C	7: 98,364,534 (GRCm39)	M234T	probably benign	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	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
R1162:Myh4	UTSW	11	67,149,439 (GRCm39)	missense	probably damaging	0.97
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
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

PCR Primer
(F):5'- CTATTTAGTTCAACACCTTGGAGCAG -3'
(R):5'- GATGAAAATGTGAATCCATGTGTGC -3'

Sequencing Primer
(F):5'- AACACCTTGGAGCAGCTGTG -3'
(R):5'- TTTCTTTCCTGGAGACTACTCTAC -3'

Posted On

2021-08-02