Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03336:Myh8'

417026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh8

Ensembl Gene

ENSMUSG00000055775

Gene Name

myosin, heavy polypeptide 8, skeletal muscle, perinatal

Synonyms

Myhsp, MyHC-pn, Myhs-p, 4832426G23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

67167950-67199460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67175528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 328 (D328Y)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019625] [ENSMUST00000108685]

AlphaFold

P13542

Predicted Effect

probably damaging
Transcript: ENSMUST00000019625
AA Change: D328Y

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

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: D328Y

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	76	2.1e-13	PFAM
MYSc	82	782	N/A	SMART
IQ	783	805	5.44e-3	SMART
Pfam:Myosin_tail_1	846	1927	2.4e-164	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108685

SMART Domains

Protein: ENSMUSP00000104325
Gene: ENSMUSG00000055775

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	78	3.8e-17	PFAM
Pfam:Myosin_head	90	172	1.7e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139052

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer with two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. This gene is located in a cluster of related genes on chromosome 11. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,888,251 (GRCm39)	V63A	probably benign	Het
Ankrd11	A	G	8: 123,618,582 (GRCm39)	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,887,150 (GRCm39)	Y629*	probably null	Het
Cenpf	T	C	1: 189,384,844 (GRCm39)	K2479E	probably damaging	Het
Clip1	G	T	5: 123,791,633 (GRCm39)	S179*	probably null	Het
Cmya5	A	G	13: 93,230,013 (GRCm39)	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,474 (GRCm39)	S119G	probably benign	Het
Fndc5	T	C	4: 129,033,711 (GRCm39)	F160L	probably benign	Het
Muc5b	T	C	7: 141,418,100 (GRCm39)	V3682A	probably damaging	Het
Or10a5	T	A	7: 106,635,542 (GRCm39)	M60K	probably damaging	Het
Or4c121	T	C	2: 89,024,241 (GRCm39)	T46A	probably benign	Het
Or51f1	C	T	7: 102,505,823 (GRCm39)	C222Y	probably benign	Het
Or51k2	T	C	7: 103,596,616 (GRCm39)	L281P	probably damaging	Het
Or6c203	T	C	10: 129,010,098 (GRCm39)	E264G	probably benign	Het
Paxbp1	T	C	16: 90,831,060 (GRCm39)	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,436,014 (GRCm39)	V660A	possibly damaging	Het
Pcyt2	T	C	11: 120,506,758 (GRCm39)	D32G	probably damaging	Het
Pdzph1	A	T	17: 59,281,229 (GRCm39)	V351D	probably benign	Het
Ribc2	C	T	15: 85,017,114 (GRCm39)	Q51*	probably null	Het
Scn2a	A	G	2: 65,519,088 (GRCm39)	E438G	probably damaging	Het
Slc18a3	T	C	14: 32,184,785 (GRCm39)		probably benign	Het
Slc5a1	G	A	5: 33,304,287 (GRCm39)	V296I	probably benign	Het
Slit3	A	T	11: 35,560,928 (GRCm39)	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114 (GRCm39)		probably benign	Het
Susd3	A	C	13: 49,392,258 (GRCm39)	S144R	probably benign	Het
Synpo2	T	C	3: 122,907,828 (GRCm39)	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,350,427 (GRCm39)	T269A	probably benign	Het
Tmem156	A	G	5: 65,233,107 (GRCm39)	Y152H	probably benign	Het
Tmem247	A	G	17: 87,225,857 (GRCm39)	E99G	probably damaging	Het
Tuba3b	A	G	6: 145,565,450 (GRCm39)	D306G	possibly damaging	Het
Vps13c	T	A	9: 67,858,924 (GRCm39)	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,567,871 (GRCm39)	Y98C	probably damaging	Het

Other mutations in Myh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Myh8	APN	11	67,174,644 (GRCm39)	missense	probably damaging	0.97
IGL01020:Myh8	APN	11	67,174,229 (GRCm39)	missense	probably damaging	0.99
IGL01348:Myh8	APN	11	67,188,606 (GRCm39)	missense	probably damaging	1.00
IGL01382:Myh8	APN	11	67,192,799 (GRCm39)	missense	probably damaging	1.00
IGL01454:Myh8	APN	11	67,174,422 (GRCm39)	missense	probably damaging	1.00
IGL01457:Myh8	APN	11	67,183,505 (GRCm39)	missense	probably benign	0.00
IGL01472:Myh8	APN	11	67,179,205 (GRCm39)	splice site	probably benign
IGL01473:Myh8	APN	11	67,192,651 (GRCm39)	critical splice donor site	probably null
IGL01613:Myh8	APN	11	67,192,536 (GRCm39)	missense	probably benign	0.11
IGL01763:Myh8	APN	11	67,177,245 (GRCm39)	missense	probably benign	0.01
IGL01828:Myh8	APN	11	67,194,652 (GRCm39)	missense	possibly damaging	0.82
IGL01862:Myh8	APN	11	67,180,520 (GRCm39)	nonsense	probably null
IGL01905:Myh8	APN	11	67,175,477 (GRCm39)	missense	possibly damaging	0.90
IGL02280:Myh8	APN	11	67,174,198 (GRCm39)	unclassified	probably benign
IGL02386:Myh8	APN	11	67,185,266 (GRCm39)	missense	probably damaging	0.99
IGL02449:Myh8	APN	11	67,185,440 (GRCm39)	critical splice donor site	probably null
IGL02500:Myh8	APN	11	67,196,536 (GRCm39)	missense	probably benign	0.00
IGL02745:Myh8	APN	11	67,188,327 (GRCm39)	missense	possibly damaging	0.88
IGL02799:Myh8	APN	11	67,192,418 (GRCm39)	splice site	probably benign
IGL03063:Myh8	APN	11	67,179,031 (GRCm39)	missense	probably benign	0.00
IGL03223:Myh8	APN	11	67,174,644 (GRCm39)	missense	probably damaging	0.97
IGL03338:Myh8	APN	11	67,189,172 (GRCm39)	missense	probably damaging	1.00
IGL03351:Myh8	APN	11	67,194,739 (GRCm39)	missense	possibly damaging	0.94
IGL03392:Myh8	APN	11	67,185,244 (GRCm39)	missense	probably damaging	1.00
BB003:Myh8	UTSW	11	67,169,732 (GRCm39)	missense	possibly damaging	0.94
BB009:Myh8	UTSW	11	67,185,430 (GRCm39)	missense	probably benign	0.00
BB013:Myh8	UTSW	11	67,169,732 (GRCm39)	missense	possibly damaging	0.94
BB019:Myh8	UTSW	11	67,185,430 (GRCm39)	missense	probably benign	0.00
PIT4354001:Myh8	UTSW	11	67,180,456 (GRCm39)	missense	probably benign	0.01
R0012:Myh8	UTSW	11	67,190,847 (GRCm39)	missense	probably benign	0.02
R0016:Myh8	UTSW	11	67,189,351 (GRCm39)	missense	probably damaging	1.00
R0016:Myh8	UTSW	11	67,189,351 (GRCm39)	missense	probably damaging	1.00
R0115:Myh8	UTSW	11	67,197,090 (GRCm39)	splice site	probably benign
R0131:Myh8	UTSW	11	67,183,014 (GRCm39)	missense	probably damaging	0.96
R0131:Myh8	UTSW	11	67,183,014 (GRCm39)	missense	probably damaging	0.96
R0132:Myh8	UTSW	11	67,183,014 (GRCm39)	missense	probably damaging	0.96
R0238:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0238:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0393:Myh8	UTSW	11	67,196,843 (GRCm39)	splice site	probably benign
R0453:Myh8	UTSW	11	67,183,731 (GRCm39)	missense	probably benign	0.03
R0454:Myh8	UTSW	11	67,194,591 (GRCm39)	nonsense	probably null
R0466:Myh8	UTSW	11	67,189,405 (GRCm39)	missense	probably benign	0.01
R0487:Myh8	UTSW	11	67,192,837 (GRCm39)	missense	probably benign
R0511:Myh8	UTSW	11	67,175,333 (GRCm39)	missense	probably benign	0.01
R0557:Myh8	UTSW	11	67,192,624 (GRCm39)	missense	possibly damaging	0.88
R0589:Myh8	UTSW	11	67,189,453 (GRCm39)	missense	probably benign	0.00
R0658:Myh8	UTSW	11	67,175,358 (GRCm39)	critical splice donor site	probably null
R0782:Myh8	UTSW	11	67,180,580 (GRCm39)	missense	probably benign	0.16
R0829:Myh8	UTSW	11	67,174,326 (GRCm39)	unclassified	probably benign
R0845:Myh8	UTSW	11	67,177,090 (GRCm39)	missense	probably damaging	1.00
R0930:Myh8	UTSW	11	67,196,824 (GRCm39)	missense	possibly damaging	0.93
R0972:Myh8	UTSW	11	67,188,585 (GRCm39)	missense	probably damaging	1.00
R1132:Myh8	UTSW	11	67,187,957 (GRCm39)	nonsense	probably null
R1417:Myh8	UTSW	11	67,197,011 (GRCm39)	missense	probably damaging	1.00
R1478:Myh8	UTSW	11	67,183,551 (GRCm39)	missense	probably benign	0.23
R1497:Myh8	UTSW	11	67,180,638 (GRCm39)	missense	probably benign	0.00
R1605:Myh8	UTSW	11	67,192,497 (GRCm39)	missense	probably damaging	0.99
R1701:Myh8	UTSW	11	67,170,964 (GRCm39)	missense	probably damaging	1.00
R1950:Myh8	UTSW	11	67,169,830 (GRCm39)	missense	possibly damaging	0.75
R1989:Myh8	UTSW	11	67,183,550 (GRCm39)	missense	probably benign	0.00
R2010:Myh8	UTSW	11	67,187,990 (GRCm39)	nonsense	probably null
R2095:Myh8	UTSW	11	67,177,050 (GRCm39)	missense	probably benign	0.00
R2132:Myh8	UTSW	11	67,183,702 (GRCm39)	missense	probably damaging	1.00
R2152:Myh8	UTSW	11	67,185,295 (GRCm39)	missense	probably damaging	0.97
R2229:Myh8	UTSW	11	67,199,174 (GRCm39)	missense	probably damaging	0.98
R2302:Myh8	UTSW	11	67,177,065 (GRCm39)	missense	probably damaging	1.00
R2364:Myh8	UTSW	11	67,185,344 (GRCm39)	missense	probably benign	0.03
R2429:Myh8	UTSW	11	67,194,723 (GRCm39)	missense	probably benign	0.21
R2880:Myh8	UTSW	11	67,188,090 (GRCm39)	missense	probably damaging	0.97
R3692:Myh8	UTSW	11	67,192,744 (GRCm39)	missense	probably damaging	0.98
R3756:Myh8	UTSW	11	67,175,443 (GRCm39)	unclassified	probably benign
R3924:Myh8	UTSW	11	67,187,963 (GRCm39)	missense	probably damaging	0.99
R4172:Myh8	UTSW	11	67,183,247 (GRCm39)	missense	probably damaging	1.00
R4255:Myh8	UTSW	11	67,190,560 (GRCm39)	missense	probably benign
R4621:Myh8	UTSW	11	67,177,084 (GRCm39)	missense	probably damaging	1.00
R4623:Myh8	UTSW	11	67,177,084 (GRCm39)	missense	probably damaging	1.00
R4790:Myh8	UTSW	11	67,170,789 (GRCm39)	missense	probably damaging	0.99
R4914:Myh8	UTSW	11	67,183,510 (GRCm39)	missense	probably damaging	1.00
R5074:Myh8	UTSW	11	67,196,742 (GRCm39)	missense	possibly damaging	0.79
R5119:Myh8	UTSW	11	67,189,184 (GRCm39)	missense	probably damaging	1.00
R5159:Myh8	UTSW	11	67,179,179 (GRCm39)	missense	probably damaging	0.99
R5229:Myh8	UTSW	11	67,175,310 (GRCm39)	missense	probably damaging	0.96
R5320:Myh8	UTSW	11	67,177,089 (GRCm39)	missense	probably damaging	1.00
R5455:Myh8	UTSW	11	67,192,244 (GRCm39)	missense	possibly damaging	0.59
R5523:Myh8	UTSW	11	67,196,788 (GRCm39)	missense	possibly damaging	0.95
R5540:Myh8	UTSW	11	67,177,266 (GRCm39)	missense	probably benign	0.00
R5726:Myh8	UTSW	11	67,185,392 (GRCm39)	missense	possibly damaging	0.79
R5770:Myh8	UTSW	11	67,188,026 (GRCm39)	missense	probably damaging	1.00
R6135:Myh8	UTSW	11	67,188,326 (GRCm39)	missense	possibly damaging	0.51
R6253:Myh8	UTSW	11	67,192,793 (GRCm39)	missense	probably benign	0.06
R6318:Myh8	UTSW	11	67,190,167 (GRCm39)	missense	probably benign	0.00
R6432:Myh8	UTSW	11	67,189,405 (GRCm39)	missense	probably benign	0.01
R6452:Myh8	UTSW	11	67,196,565 (GRCm39)	missense	possibly damaging	0.88
R6452:Myh8	UTSW	11	67,183,275 (GRCm39)	missense	probably benign	0.27
R6512:Myh8	UTSW	11	67,180,488 (GRCm39)	nonsense	probably null
R6714:Myh8	UTSW	11	67,197,775 (GRCm39)	missense	probably damaging	1.00
R6842:Myh8	UTSW	11	67,175,481 (GRCm39)	missense	probably damaging	1.00
R7007:Myh8	UTSW	11	67,179,142 (GRCm39)	missense	probably benign	0.03
R7025:Myh8	UTSW	11	67,188,365 (GRCm39)	missense	probably benign	0.02
R7086:Myh8	UTSW	11	67,183,453 (GRCm39)	splice site	probably null
R7098:Myh8	UTSW	11	67,169,879 (GRCm39)	missense	probably benign	0.03
R7498:Myh8	UTSW	11	67,174,263 (GRCm39)	missense	possibly damaging	0.80
R7716:Myh8	UTSW	11	67,189,478 (GRCm39)	missense	possibly damaging	0.51
R7765:Myh8	UTSW	11	67,194,481 (GRCm39)	missense	probably benign	0.44
R7825:Myh8	UTSW	11	67,194,538 (GRCm39)	missense	possibly damaging	0.94
R7921:Myh8	UTSW	11	67,174,644 (GRCm39)	missense	probably damaging	0.97
R7926:Myh8	UTSW	11	67,169,732 (GRCm39)	missense	possibly damaging	0.94
R7932:Myh8	UTSW	11	67,185,430 (GRCm39)	missense	probably benign	0.00
R8003:Myh8	UTSW	11	67,190,586 (GRCm39)	missense	probably damaging	1.00
R8028:Myh8	UTSW	11	67,194,502 (GRCm39)	missense	possibly damaging	0.65
R8121:Myh8	UTSW	11	67,180,647 (GRCm39)	missense	probably benign	0.00
R8125:Myh8	UTSW	11	67,190,598 (GRCm39)	missense	possibly damaging	0.94
R8170:Myh8	UTSW	11	67,179,092 (GRCm39)	missense	probably benign	0.30
R8277:Myh8	UTSW	11	67,183,735 (GRCm39)	missense	probably benign	0.10
R8304:Myh8	UTSW	11	67,195,162 (GRCm39)	missense	possibly damaging	0.72
R8431:Myh8	UTSW	11	67,174,440 (GRCm39)	missense	possibly damaging	0.94
R8535:Myh8	UTSW	11	67,169,741 (GRCm39)	missense	probably damaging	1.00
R8795:Myh8	UTSW	11	67,174,203 (GRCm39)	critical splice acceptor site	probably benign
R8858:Myh8	UTSW	11	67,192,820 (GRCm39)	missense	possibly damaging	0.67
R8927:Myh8	UTSW	11	67,174,081 (GRCm39)	missense	probably benign	0.10
R8928:Myh8	UTSW	11	67,174,081 (GRCm39)	missense	probably benign	0.10
R9031:Myh8	UTSW	11	67,190,141 (GRCm39)	missense	possibly damaging	0.49
R9172:Myh8	UTSW	11	67,183,260 (GRCm39)	missense	possibly damaging	0.82
R9252:Myh8	UTSW	11	67,177,302 (GRCm39)	missense	probably damaging	1.00
R9365:Myh8	UTSW	11	67,174,632 (GRCm39)	missense	probably benign	0.42
R9468:Myh8	UTSW	11	67,197,730 (GRCm39)	missense	probably damaging	1.00
R9564:Myh8	UTSW	11	67,177,215 (GRCm39)	missense	probably benign	0.40
R9565:Myh8	UTSW	11	67,177,215 (GRCm39)	missense	probably benign	0.40
T0722:Myh8	UTSW	11	67,195,262 (GRCm39)	missense	probably benign	0.41
Z1088:Myh8	UTSW	11	67,189,418 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh8	UTSW	11	67,194,500 (GRCm39)	missense	probably damaging	1.00
Z1177:Myh8	UTSW	11	67,199,181 (GRCm39)	missense	possibly damaging	0.64
Z1177:Myh8	UTSW	11	67,192,250 (GRCm39)	missense	probably damaging	0.99
Z1187:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign
Z1188:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign
Z1190:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign
Z1191:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign

Posted On

2016-08-02