Mutagenetix > Incidental Mutation

Incidental Mutation 'R6156:Myh4'

489604

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

044303-MU

Accession Numbers

Essential gene?

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

Stock #

R6156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67128855-67151272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67141618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 826 (M826V)

Ref Sequence

ENSEMBL: ENSMUSP00000127514 (fasta)

Gene Model

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

AlphaFold

Q5SX39

Predicted Effect

probably benign
Transcript: ENSMUST00000018632
AA Change: M826V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: M826V

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: M826V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: M826V

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,689,488 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,886 (GRCm39)	D2579G	probably damaging	Het
Atp6v1b1	G	C	6: 83,735,115 (GRCm39)	G423R	probably damaging	Het
B4galnt3	T	C	6: 120,191,801 (GRCm39)	N644S	probably benign	Het
Bhmt1b	C	A	18: 87,775,231 (GRCm39)	Y251*	probably null	Het
Capsl	T	G	15: 9,465,920 (GRCm39)	M132R	probably damaging	Het
Cep120	A	G	18: 53,836,295 (GRCm39)	Y797H	probably benign	Het
Cimip4	T	C	15: 78,263,013 (GRCm39)	T214A	probably damaging	Het
Clec2e	T	A	6: 129,072,061 (GRCm39)	D106V	possibly damaging	Het
Col6a2	C	T	10: 76,440,004 (GRCm39)	V634I	possibly damaging	Het
Dis3	T	C	14: 99,336,215 (GRCm39)	E97G	probably benign	Het
Dlec1	T	C	9: 118,939,281 (GRCm39)		probably null	Het
Dock2	C	A	11: 34,197,789 (GRCm39)	V1484F	possibly damaging	Het
Ephb2	T	A	4: 136,388,816 (GRCm39)	M593L	probably benign	Het
Fcgrt	T	C	7: 44,751,484 (GRCm39)	T125A	probably benign	Het
Gabbr1	T	C	17: 37,359,319 (GRCm39)	I98T	probably benign	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gfod1	T	C	13: 43,354,514 (GRCm39)	S154G	possibly damaging	Het
Ggt5	C	T	10: 75,445,160 (GRCm39)	T389I	probably damaging	Het
Got2	A	G	8: 96,598,896 (GRCm39)	F169L	probably benign	Het
Gse1	A	G	8: 121,215,866 (GRCm39)	K5E	possibly damaging	Het
Hyal5	T	C	6: 24,891,437 (GRCm39)	I417T	possibly damaging	Het
Igkv4-91	G	T	6: 68,745,607 (GRCm39)	T97K	probably damaging	Het
Il4i1	T	C	7: 44,489,608 (GRCm39)	Y458H	possibly damaging	Het
Impg1	A	T	9: 80,230,106 (GRCm39)	C740S	probably damaging	Het
Itgb1	C	G	8: 129,458,535 (GRCm39)	T788R	possibly damaging	Het
Lman2l	A	G	1: 36,477,907 (GRCm39)	V143A	probably damaging	Het
Ltbp4	G	T	7: 27,029,587 (GRCm39)	T136K	unknown	Het
Macf1	A	G	4: 123,366,073 (GRCm39)	I1331T	probably benign	Het
Mmp11	G	A	10: 75,762,325 (GRCm39)	A336V	probably damaging	Het
Myh2	A	T	11: 67,071,879 (GRCm39)	I536F	probably damaging	Het
Naca	T	C	10: 127,875,160 (GRCm39)		probably benign	Het
Nr4a2	A	G	2: 57,002,364 (GRCm39)	Y30H	probably damaging	Het
Or12j4	A	G	7: 140,046,758 (GRCm39)	T215A	probably benign	Het
Or1e35	A	T	11: 73,797,447 (GRCm39)	Y290*	probably null	Het
Or2n1d	T	A	17: 38,646,064 (GRCm39)	N5K	probably damaging	Het
Or4a67	T	A	2: 88,597,934 (GRCm39)	I242L	probably benign	Het
Or4f14d	A	T	2: 111,960,445 (GRCm39)	L237Q	probably damaging	Het
Or4k42	A	T	2: 111,320,095 (GRCm39)	M136K	probably damaging	Het
Or4z4	A	G	19: 12,076,484 (GRCm39)	V173A	possibly damaging	Het
Or8g22	T	A	9: 38,958,671 (GRCm39)	M15L	possibly damaging	Het
Paqr3	A	C	5: 97,256,128 (GRCm39)	L82R	probably damaging	Het
Pex6	C	T	17: 47,031,567 (GRCm39)	P456S	probably benign	Het
Pih1d2	A	T	9: 50,532,452 (GRCm39)	K186I	possibly damaging	Het
Plekhh3	A	G	11: 101,061,013 (GRCm39)		probably benign	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Rcor3	T	A	1: 191,812,142 (GRCm39)		probably benign	Het
Rgs11	T	A	17: 26,429,439 (GRCm39)	Y403*	probably null	Het
Scn10a	T	C	9: 119,464,649 (GRCm39)	N984D	probably benign	Het
Snx14	C	T	9: 88,289,392 (GRCm39)	A287T	possibly damaging	Het
Stx3	T	C	19: 11,780,874 (GRCm39)	D33G	probably damaging	Het
Tacc2	A	G	7: 130,227,494 (GRCm39)	K1393R	probably damaging	Het
Tas2r129	T	C	6: 132,928,455 (GRCm39)	S131P	probably benign	Het
Tbx15	G	T	3: 99,220,431 (GRCm39)		probably null	Het
Thada	A	G	17: 84,700,795 (GRCm39)	V1237A	probably damaging	Het
Tnc	A	G	4: 63,888,589 (GRCm39)	Y1735H	probably damaging	Het
Ttc22	A	G	4: 106,495,780 (GRCm39)	K378R	probably benign	Het
Tubg2	A	G	11: 101,051,635 (GRCm39)	K287E	possibly damaging	Het
Ugt3a1	T	C	15: 9,310,762 (GRCm39)	I348T	possibly damaging	Het
Unc79	A	G	12: 103,027,717 (GRCm39)	N436S	probably damaging	Het
Unc80	A	T	1: 66,651,409 (GRCm39)	I1585F	probably benign	Het
Vmn2r104	T	C	17: 20,261,909 (GRCm39)	Y407C	probably damaging	Het
Vmn2r108	T	A	17: 20,692,447 (GRCm39)	L136F	probably benign	Het
Vmn2r38	A	G	7: 9,097,611 (GRCm39)	S161P	probably damaging	Het
Vmn2r90	T	C	17: 17,953,606 (GRCm39)	I590T	probably benign	Het
Washc5	T	C	15: 59,217,248 (GRCm39)	E323G	probably damaging	Het
Wdhd1	C	T	14: 47,505,653 (GRCm39)	G273D	probably damaging	Het
Xpo6	G	T	7: 125,708,016 (GRCm39)	Q851K	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	probably damaging	Het
Zfp536	A	G	7: 37,173,281 (GRCm39)	C274R	unknown	Het
Zfp64	A	G	2: 168,768,088 (GRCm39)	I508T	probably benign	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
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

PCR Primer
(F):5'- ACCTGATGAGGGTGGAGTTC -3'
(R):5'- ACACTCACAGCTTGAACCTGG -3'

Sequencing Primer
(F):5'- CCTGATGAGGGTGGAGTTCAAAAAG -3'
(R):5'- TCACAGCTTGAACCTGGAGCTG -3'

Posted On

2017-10-10