Mutagenetix > Incidental Mutation

Incidental Mutation 'R3744:Myh4'

271128

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

040730-MU

Accession Numbers

Essential gene?

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

Stock #

R3744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67128855-67151272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67146141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1400 (R1400C)

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: R1400C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: R1400C

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: R1400C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: R1400C

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

0.2564

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (33/33)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,330,190 (GRCm39)		probably benign	Het
Aox4	C	T	1: 58,285,029 (GRCm39)	H594Y	probably damaging	Het
Aspn	G	A	13: 49,720,036 (GRCm39)	E351K	probably damaging	Het
BC004004	A	G	17: 29,520,423 (GRCm39)	*349W	probably null	Het
Elmo2	C	T	2: 165,157,922 (GRCm39)	D39N	probably damaging	Het
Fam161a	T	C	11: 22,970,410 (GRCm39)	F196S	probably damaging	Het
Fam186a	A	G	15: 99,845,416 (GRCm39)	V276A	unknown	Het
Fn3krp	T	C	11: 121,317,531 (GRCm39)		probably null	Het
Gnai3	T	C	3: 108,016,714 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,292,815 (GRCm39)		probably benign	Het
Igkv5-43	G	A	6: 69,752,921 (GRCm39)	H54Y	probably benign	Het
Kif26b	A	G	1: 178,506,595 (GRCm39)	I224V	probably benign	Het
Lyg1	T	C	1: 37,988,923 (GRCm39)	Y99C	probably benign	Het
Nf1	T	C	11: 79,439,573 (GRCm39)	S2262P	probably benign	Het
Pop5	T	C	5: 115,378,567 (GRCm39)	Y117H	possibly damaging	Het
Prpf8	T	A	11: 75,397,547 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rapgef6	T	C	11: 54,516,760 (GRCm39)	F54S	probably benign	Het
Sptb	T	C	12: 76,647,174 (GRCm39)	T1954A	probably benign	Het
Ssbp2	T	C	13: 91,828,765 (GRCm39)		probably benign	Het
Tap1	A	T	17: 34,412,586 (GRCm39)	D541V	probably damaging	Het
Tcte1	A	G	17: 45,850,597 (GRCm39)	D291G	probably damaging	Het
Tpbg	A	G	9: 85,727,215 (GRCm39)	R395G	probably damaging	Het
Trappc10	T	A	10: 78,034,924 (GRCm39)	S941C	probably benign	Het
Usp19	G	A	9: 108,377,380 (GRCm39)	R886Q	probably damaging	Het
Utp14b	G	T	1: 78,642,973 (GRCm39)	E290D	probably benign	Het
Vmn1r30	A	T	6: 58,412,804 (GRCm39)	Y9*	probably null	Het
Vmn2r97	A	G	17: 19,149,890 (GRCm39)	H426R	probably benign	Het
Vwa3a	A	G	7: 120,351,817 (GRCm39)	D27G	probably benign	Het
Zfp36	A	G	7: 28,077,201 (GRCm39)	S236P	probably benign	Het
Zfp616	C	A	11: 73,974,813 (GRCm39)	H452N	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
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

PCR Primer
(F):5'- ATGGAAAAGAGCTCCCCTGG -3'
(R):5'- AGTTGTAAGTCCCAGGTCCG -3'

Sequencing Primer
(F):5'- TCCCCTGGGAAATCAGAATTCTGG -3'
(R):5'- CAGGTCCGGTGGGCCAC -3'

Posted On

2015-03-18