Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Myh13'

553730

Institutional Source

Beutler Lab

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, MyHC-eo, extraocular myosin

MMRRC Submission

045223-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67217929-67262413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67245566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1069 (S1069A)

Ref Sequence

ENSEMBL: ENSMUSP00000080584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081911] [ENSMUST00000108684] [ENSMUST00000180845]

AlphaFold

B1AR69

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: S1069A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: S1069A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	8e-13	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
Pfam:Myosin_tail_1	847	1928	4.6e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108684
AA Change: S1069A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: S1069A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.8e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
low complexity region	847	858	N/A	INTRINSIC
low complexity region	925	940	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180845
AA Change: S1069A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: S1069A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.8e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
low complexity region	847	858	N/A	INTRINSIC
low complexity region	925	940	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: 99.2%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,820 (GRCm39)	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,346,212 (GRCm39)	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,250,992 (GRCm39)	E584K	probably benign	Het
Ano3	A	T	2: 110,693,205 (GRCm39)	V131D	probably benign	Het
Arhgdig	C	T	17: 26,418,337 (GRCm39)	W215*	probably null	Het
Cad	G	T	5: 31,224,956 (GRCm39)	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,124,080 (GRCm39)	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,156,468 (GRCm39)	D1681E	probably benign	Het
Cenpl	T	A	1: 160,910,482 (GRCm39)	L143H	possibly damaging	Het
Cherp	T	C	8: 73,222,230 (GRCm39)	K270E		Het
Cmss1	A	G	16: 57,131,718 (GRCm39)	I136T	probably benign	Het
Col23a1	T	C	11: 51,456,050 (GRCm39)		probably null	Het
Crnn	C	A	3: 93,055,689 (GRCm39)	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,922,844 (GRCm39)	Q149L	probably benign	Het
Dst	T	A	1: 34,228,963 (GRCm39)	N2185K	probably benign	Het
Eif1ad18	G	T	12: 88,050,597 (GRCm39)	C44F	probably benign	Het
Elp2	T	A	18: 24,737,126 (GRCm39)	N25K	probably benign	Het
Ephb4	A	T	5: 137,370,308 (GRCm39)	D845V	probably damaging	Het
Esyt3	T	C	9: 99,201,627 (GRCm39)	T561A	probably damaging	Het
F3	G	T	3: 121,525,235 (GRCm39)	V159L	probably damaging	Het
Fam81a	A	T	9: 70,017,560 (GRCm39)	D128E	probably damaging	Het
Flot1	T	G	17: 36,135,835 (GRCm39)	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507 (GRCm39)	K102N	probably damaging	Het
Gm6309	T	C	5: 146,107,100 (GRCm39)	Q82R	possibly damaging	Het
H13	A	G	2: 152,522,992 (GRCm39)	N102D	probably damaging	Het
Lamc2	C	G	1: 153,006,518 (GRCm39)	A878P	possibly damaging	Het
Lepr	C	T	4: 101,609,394 (GRCm39)	T327I	probably benign	Het
Lrp2	A	G	2: 69,285,152 (GRCm39)		probably null	Het
Ly86	A	G	13: 37,560,986 (GRCm39)	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,343,201 (GRCm39)	F648I	possibly damaging	Het
Muc16	G	A	9: 18,566,876 (GRCm39)	T1881I	unknown	Het
Myh4	T	A	11: 67,151,054 (GRCm39)	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,965,545 (GRCm39)	L1341*	probably null	Het
Naa25	G	T	5: 121,555,552 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapg	C	T	5: 45,827,372 (GRCm39)	A3V	possibly damaging	Het
Ncln	T	C	10: 81,324,086 (GRCm39)	H481R	probably benign	Het
Nek4	C	A	14: 30,704,305 (GRCm39)	Q607K	probably damaging	Het
Neo1	T	C	9: 58,796,462 (GRCm39)	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,615,692 (GRCm39)	N165S	probably benign	Het
Or2l5	C	G	16: 19,333,649 (GRCm39)	V246L	probably damaging	Het
Or4p22	C	T	2: 88,317,721 (GRCm39)	S215L	probably damaging	Het
Or8b8	A	G	9: 37,808,859 (GRCm39)	H53R	probably benign	Het
Or8k30	T	C	2: 86,338,872 (GRCm39)	L23P	probably damaging	Het
Otulin	T	C	15: 27,608,856 (GRCm39)	Y229C	probably damaging	Het
Palld	A	T	8: 61,985,051 (GRCm39)	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,638,142 (GRCm39)	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,840,781 (GRCm39)	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,854,843 (GRCm39)	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,896,050 (GRCm39)	Y373*	probably null	Het
Plxna2	G	T	1: 194,331,830 (GRCm39)	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,959,434 (GRCm39)		probably null	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Scaper	C	T	9: 55,819,395 (GRCm39)	D107N	unknown	Het
Scgb2b3	T	A	7: 31,059,573 (GRCm39)	Y67F	probably benign	Het
Scn5a	G	A	9: 119,315,437 (GRCm39)	T1757I	probably damaging	Het
Sgo2b	G	A	8: 64,381,218 (GRCm39)	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,298,797 (GRCm39)	K72R	probably damaging	Het
Smchd1	T	A	17: 71,685,202 (GRCm39)	T1409S	probably benign	Het
Stab1	A	T	14: 30,867,030 (GRCm39)		probably null	Het
Sult2b1	T	C	7: 45,383,056 (GRCm39)	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,663,687 (GRCm39)	H64Q	probably damaging	Het
Tle6	T	C	10: 81,435,910 (GRCm39)	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,412,285 (GRCm39)	V203A	probably benign	Het
Tmem45b	G	A	9: 31,340,337 (GRCm39)	T108I	probably damaging	Het
Tmf1	A	T	6: 97,153,079 (GRCm39)	D331E	probably damaging	Het
Txndc9	T	C	1: 38,029,377 (GRCm39)	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,168,711 (GRCm39)	R806S	probably benign	Het
Vmn2r59	G	A	7: 41,695,188 (GRCm39)	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67,233,314 (GRCm39)	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67,225,830 (GRCm39)	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67,252,154 (GRCm39)	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67,246,773 (GRCm39)	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67,238,832 (GRCm39)	missense	probably null	1.00
IGL01414:Myh13	APN	11	67,233,298 (GRCm39)	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67,242,894 (GRCm39)	missense	probably benign
IGL01523:Myh13	APN	11	67,238,769 (GRCm39)	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67,260,045 (GRCm39)	unclassified	probably benign
IGL01997:Myh13	APN	11	67,257,992 (GRCm39)	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67,251,100 (GRCm39)	unclassified	probably benign
IGL02478:Myh13	APN	11	67,260,204 (GRCm39)	missense	probably benign
IGL02663:Myh13	APN	11	67,245,753 (GRCm39)	nonsense	probably null
IGL02851:Myh13	APN	11	67,239,742 (GRCm39)	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67,223,367 (GRCm39)	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67,257,991 (GRCm39)	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67,225,788 (GRCm39)	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67,235,679 (GRCm39)	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67,244,411 (GRCm39)	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67,241,068 (GRCm39)	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67,242,817 (GRCm39)	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67,242,978 (GRCm39)	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67,242,777 (GRCm39)	splice site	probably benign
P0042:Myh13	UTSW	11	67,225,817 (GRCm39)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,258,063 (GRCm39)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,258,063 (GRCm39)	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67,260,121 (GRCm39)	unclassified	probably benign
R0496:Myh13	UTSW	11	67,239,641 (GRCm39)	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67,251,200 (GRCm39)	nonsense	probably null
R0595:Myh13	UTSW	11	67,235,672 (GRCm39)	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67,232,058 (GRCm39)	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67,240,436 (GRCm39)	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67,225,427 (GRCm39)	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67,235,828 (GRCm39)	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67,247,007 (GRCm39)	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67,245,576 (GRCm39)	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67,261,747 (GRCm39)	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67,244,544 (GRCm39)	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67,261,776 (GRCm39)	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67,221,872 (GRCm39)	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67,244,500 (GRCm39)	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67,253,407 (GRCm39)	unclassified	probably benign
R1673:Myh13	UTSW	11	67,242,945 (GRCm39)	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67,232,310 (GRCm39)	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67,225,402 (GRCm39)	missense	probably benign
R2029:Myh13	UTSW	11	67,252,115 (GRCm39)	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67,241,064 (GRCm39)	missense	probably benign
R2247:Myh13	UTSW	11	67,225,384 (GRCm39)	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67,231,184 (GRCm39)	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67,255,748 (GRCm39)	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67,228,469 (GRCm39)	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67,235,870 (GRCm39)	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67,218,014 (GRCm39)	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67,249,020 (GRCm39)	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67,220,064 (GRCm39)	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67,221,715 (GRCm39)	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67,255,636 (GRCm39)	intron	probably benign
R4183:Myh13	UTSW	11	67,240,436 (GRCm39)	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67,235,707 (GRCm39)	splice site	probably null
R4639:Myh13	UTSW	11	67,232,377 (GRCm39)	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67,255,564 (GRCm39)	nonsense	probably null
R4783:Myh13	UTSW	11	67,232,096 (GRCm39)	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67,228,477 (GRCm39)	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67,218,085 (GRCm39)	nonsense	probably null
R5278:Myh13	UTSW	11	67,225,390 (GRCm39)	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67,235,616 (GRCm39)	splice site	probably null
R5479:Myh13	UTSW	11	67,239,648 (GRCm39)	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67,228,549 (GRCm39)	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67,220,101 (GRCm39)	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67,225,828 (GRCm39)	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67,251,294 (GRCm39)	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67,244,484 (GRCm39)	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67,255,556 (GRCm39)	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67,245,588 (GRCm39)	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67,253,327 (GRCm39)	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67,241,191 (GRCm39)	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67,252,226 (GRCm39)	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67,241,086 (GRCm39)	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67,241,245 (GRCm39)	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67,246,984 (GRCm39)	missense	probably benign
R6911:Myh13	UTSW	11	67,245,753 (GRCm39)	nonsense	probably null
R6997:Myh13	UTSW	11	67,217,980 (GRCm39)	nonsense	probably null
R7033:Myh13	UTSW	11	67,260,142 (GRCm39)	missense	possibly damaging	0.92
R7232:Myh13	UTSW	11	67,239,672 (GRCm39)	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67,223,390 (GRCm39)	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67,255,286 (GRCm39)	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67,258,537 (GRCm39)	missense
R7474:Myh13	UTSW	11	67,217,990 (GRCm39)	missense	possibly damaging	0.93
R7766:Myh13	UTSW	11	67,249,155 (GRCm39)	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67,241,167 (GRCm39)	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67,218,056 (GRCm39)	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67,231,206 (GRCm39)	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67,225,613 (GRCm39)	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67,241,113 (GRCm39)	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67,254,011 (GRCm39)	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67,255,351 (GRCm39)	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67,233,311 (GRCm39)	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67,242,960 (GRCm39)	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67,252,161 (GRCm39)	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67,252,161 (GRCm39)	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67,255,432 (GRCm39)	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67,242,885 (GRCm39)	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67,252,149 (GRCm39)	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67,253,318 (GRCm39)	missense	probably benign
R9182:Myh13	UTSW	11	67,228,579 (GRCm39)	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67,254,109 (GRCm39)	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67,242,894 (GRCm39)	missense	probably benign
R9446:Myh13	UTSW	11	67,255,325 (GRCm39)	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67,255,712 (GRCm39)	missense
R9690:Myh13	UTSW	11	67,249,194 (GRCm39)	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67,251,294 (GRCm39)	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67,249,016 (GRCm39)	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67,220,121 (GRCm39)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,255,417 (GRCm39)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,241,278 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AAAGAGGTACCTGGAAGCCC -3'
(R):5'- CTCCTTCCTGCAAGCAGATTG -3'

Sequencing Primer
(F):5'- GTACCTGGAAGCCCCCAAGATATC -3'
(R):5'- GCCCTTTTTTAAGGGAGG -3'

Posted On

2019-05-15