Mutagenetix > Incidental Mutation

Incidental Mutation 'R7685:Myh4'

593022

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

045750-MU

Accession Numbers

Essential gene?

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

Stock #

R7685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67128855-67151272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67131756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 72 (V72A)

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: V72A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: V72A

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: V72A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: V72A

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (79/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,116,081 (GRCm39)	L251S	probably damaging	Het
Acsbg1	C	T	9: 54,535,843 (GRCm39)	S53N	unknown	Het
Adamts18	A	G	8: 114,439,855 (GRCm39)	C913R	probably damaging	Het
Adck5	C	A	15: 76,479,588 (GRCm39)	Y524*	probably null	Het
Adgrv1	G	T	13: 81,251,443 (GRCm39)	Q6225K	possibly damaging	Het
Ahr	T	C	12: 35,554,016 (GRCm39)	N701S	probably damaging	Het
Apc	T	C	18: 34,447,261 (GRCm39)	C1386R	probably damaging	Het
Bbs1	A	G	19: 4,956,182 (GRCm39)	S38P	probably benign	Het
Celsr1	G	T	15: 85,862,933 (GRCm39)	C1366*	probably null	Het
Cep290	A	C	10: 100,375,919 (GRCm39)	H1424P	probably benign	Het
Clcn3	C	T	8: 61,386,119 (GRCm39)	R311K	possibly damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Dhx9	A	G	1: 153,334,152 (GRCm39)	Y1002H	probably damaging	Het
Dnah8	C	T	17: 30,876,947 (GRCm39)	T533I	probably damaging	Het
Ermard	T	C	17: 15,279,724 (GRCm39)	S505P	probably benign	Het
Fbxw17	G	A	13: 50,579,680 (GRCm39)	D166N	probably damaging	Het
Fmo3	T	C	1: 162,785,901 (GRCm39)	K363R	possibly damaging	Het
Frey1	C	A	2: 92,213,817 (GRCm39)	P68Q	probably damaging	Het
Gadd45gip1	A	T	8: 85,558,980 (GRCm39)	R21W	probably damaging	Het
Galnt4	A	G	10: 98,945,826 (GRCm39)	N517S	probably benign	Het
Ganc	T	A	2: 120,264,273 (GRCm39)	W409R	probably damaging	Het
Glrx3	T	C	7: 137,060,920 (GRCm39)	S185P	probably damaging	Het
Gm49368	T	C	7: 127,712,414 (GRCm39)	S853P	probably damaging	Het
Gtf3c2	A	C	5: 31,325,611 (GRCm39)	L443V	probably damaging	Het
Gxylt2	A	T	6: 100,781,489 (GRCm39)	Q388L	probably benign	Het
Hcar2	C	T	5: 124,003,396 (GRCm39)	V36M	possibly damaging	Het
Ifit3b	A	T	19: 34,589,955 (GRCm39)	D377V	possibly damaging	Het
Ints5	A	G	19: 8,874,168 (GRCm39)	D709G	probably benign	Het
Lyst	A	G	13: 13,844,450 (GRCm39)	E1880G	probably benign	Het
Mep1a	C	T	17: 43,790,065 (GRCm39)	S428N	probably benign	Het
Mllt6	T	C	11: 97,567,790 (GRCm39)	L739P	probably damaging	Het
Mlst8	T	C	17: 24,695,031 (GRCm39)	Y284C	probably damaging	Het
Mmel1	T	C	4: 154,956,111 (GRCm39)	M1T	probably null	Het
Muc5ac	C	T	7: 141,363,120 (GRCm39)	P2144S	unknown	Het
Naa15	T	A	3: 51,377,395 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,248,028 (GRCm39)		probably null	Het
Nme8	T	A	13: 19,835,145 (GRCm39)	M514L	probably benign	Het
Nudt9	C	A	5: 104,194,946 (GRCm39)	S14*	probably null	Het
Optn	G	A	2: 5,059,461 (GRCm39)	T19I	probably benign	Het
Or11h23	A	T	14: 50,948,215 (GRCm39)	I143F	possibly damaging	Het
Or13a24	T	C	7: 140,154,159 (GRCm39)	F31S	probably damaging	Het
Osbpl8	T	A	10: 111,112,370 (GRCm39)	L495*	probably null	Het
Panx2	T	C	15: 88,951,973 (GRCm39)	S147P	possibly damaging	Het
Pclo	T	A	5: 14,730,630 (GRCm39)	V3044D	unknown	Het
Pcnt	T	C	10: 76,258,642 (GRCm39)	K608E	probably benign	Het
Pde7a	T	A	3: 19,281,909 (GRCm39)	N447I	probably damaging	Het
Peli2	G	T	14: 48,517,491 (GRCm39)	C186F	not run	Het
Pgm5	A	G	19: 24,705,215 (GRCm39)	F433L	probably benign	Het
Plce1	G	A	19: 38,736,877 (GRCm39)	V1588I	probably benign	Het
Plin4	T	A	17: 56,409,413 (GRCm39)	H1295L	probably benign	Het
Poli	T	C	18: 70,658,590 (GRCm39)	E134G	probably benign	Het
Pramel11	T	A	4: 143,624,371 (GRCm39)	D42V	probably benign	Het
Ptprq	T	A	10: 107,479,839 (GRCm39)	I1144F	probably damaging	Het
Ptprz1	A	T	6: 23,024,977 (GRCm39)	T1738S	probably damaging	Het
Pxdc1	A	G	13: 34,836,267 (GRCm39)	L51P	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhd	T	A	4: 134,611,820 (GRCm39)		probably null	Het
Rpp14	T	C	14: 8,090,453 (GRCm38)	S126P	probably damaging	Het
Scn7a	C	T	2: 66,506,536 (GRCm39)	C1451Y	probably damaging	Het
Sdr39u1	G	A	14: 56,135,191 (GRCm39)	R251*	probably null	Het
Sephs2	G	T	7: 126,872,506 (GRCm39)	P196T	possibly damaging	Het
Slc22a16	T	C	10: 40,450,085 (GRCm39)	Y195H	possibly damaging	Het
Spg11	C	A	2: 121,899,361 (GRCm39)	V1575F	probably damaging	Het
Sqle	C	T	15: 59,187,890 (GRCm39)	S66L	probably benign	Het
Tas2r124	T	G	6: 132,732,056 (GRCm39)	W122G	probably damaging	Het
Tex52	A	T	6: 128,361,921 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,993,454 (GRCm39)	C604*	probably null	Het
Tmc3	T	C	7: 83,246,666 (GRCm39)	S136P	probably damaging	Het
Tmem212	T	A	3: 27,950,462 (GRCm39)	T11S	probably benign	Het
Ubn2	A	G	6: 38,468,727 (GRCm39)	N1147S	probably benign	Het
Uggt2	A	G	14: 119,312,759 (GRCm39)	I350T	probably damaging	Het
Ust	A	T	10: 8,083,339 (GRCm39)	Y346N	probably damaging	Het
Vwa8	A	G	14: 79,335,740 (GRCm39)	T1399A	probably benign	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp800	C	A	6: 28,244,193 (GRCm39)	K257N	probably damaging	Het
Zfp985	T	A	4: 147,667,331 (GRCm39)	D66E	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
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
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'- TTTTGATGCCAAGTCATCGGTG -3'
(R):5'- TTCAACAGCAGAAAGTACACGG -3'

Sequencing Primer
(F):5'- TGCTAAGGAGTCCTATGTGAAAGC -3'
(R):5'- GTACACGGACTGGATGAAACCC -3'

Posted On

2019-11-12