Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Myh13'

77741

Institutional Source

Beutler Lab

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, extraocular myosin, MyHC-eo

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R0834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67349610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 780 (M780T)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081911
AA Change: M780T

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: M780T

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

possibly damaging
Transcript: ENSMUST00000108684
AA Change: M780T

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: M780T

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

possibly damaging
Transcript: ENSMUST00000180845
AA Change: M780T

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: M780T

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

Meta Mutation Damage Score

0.1106

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	T	C	16: 14,093,931 (GRCm38)	L47P	probably damaging	Het
Add2	A	T	6: 86,086,917 (GRCm38)	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,412,910 (GRCm38)	I156V	probably benign	Het
Ang4	T	A	14: 51,764,268 (GRCm38)	K74N	probably benign	Het
Arcn1	A	T	9: 44,758,875 (GRCm38)		probably benign	Het
Arhgef33	T	A	17: 80,347,597 (GRCm38)		probably benign	Het
Arntl2	A	G	6: 146,822,687 (GRCm38)	H359R	probably damaging	Het
Atn1	A	G	6: 124,743,225 (GRCm38)		probably benign	Het
Brip1	T	C	11: 86,192,827 (GRCm38)	T123A	probably benign	Het
Camkv	A	G	9: 107,945,846 (GRCm38)	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,204,385 (GRCm38)	S340T	probably benign	Het
Ckap2l	G	A	2: 129,296,304 (GRCm38)		probably benign	Het
Clmn	A	T	12: 104,771,826 (GRCm38)	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,771,827 (GRCm38)	L1042M	probably damaging	Het
Cluh	T	C	11: 74,663,805 (GRCm38)	V737A	probably benign	Het
Cpne8	A	G	15: 90,540,259 (GRCm38)	V309A	probably benign	Het
Cpxm2	T	A	7: 132,154,613 (GRCm38)		probably benign	Het
Csmd3	A	T	15: 47,883,677 (GRCm38)		probably benign	Het
Ctr9	T	A	7: 111,050,952 (GRCm38)	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,699,957 (GRCm38)	A309V	probably damaging	Het
D10Jhu81e	T	C	10: 78,162,705 (GRCm38)	D229G	probably damaging	Het
Dbndd2	C	T	2: 164,490,202 (GRCm38)	T115I	possibly damaging	Het
Ddx58	T	A	4: 40,239,596 (GRCm38)	E34V	possibly damaging	Het
Dhcr7	A	G	7: 143,841,227 (GRCm38)	N157S	probably benign	Het
Dlx2	C	A	2: 71,545,515 (GRCm38)	V155F	probably damaging	Het
Duox1	A	T	2: 122,346,501 (GRCm38)	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,470,297 (GRCm38)	I68F	probably benign	Het
Fhod3	T	A	18: 25,115,805 (GRCm38)	L1347*	probably null	Het
Fip1l1	T	C	5: 74,595,060 (GRCm38)		probably benign	Het
Frem3	A	G	8: 80,687,008 (GRCm38)	Y1966C	probably damaging	Het
Ggt5	C	T	10: 75,604,770 (GRCm38)	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,995,687 (GRCm38)	V185I	probably benign	Het
Gnptab	T	C	10: 88,429,952 (GRCm38)	V409A	probably damaging	Het
Gramd1a	A	G	7: 31,138,164 (GRCm38)	F390S	possibly damaging	Het
Helz2	A	G	2: 181,230,777 (GRCm38)	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,089,122 (GRCm38)	K3E	probably benign	Het
Ift172	T	C	5: 31,257,371 (GRCm38)	H1395R	probably benign	Het
Jam2	T	A	16: 84,812,967 (GRCm38)	C180S	probably damaging	Het
Kalrn	A	C	16: 34,049,919 (GRCm38)	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,622,635 (GRCm38)	I343T	probably damaging	Het
Kif13a	T	C	13: 46,814,236 (GRCm38)	E334G	probably damaging	Het
Klhl41	A	G	2: 69,678,147 (GRCm38)	K482E	possibly damaging	Het
Lig3	A	G	11: 82,798,287 (GRCm38)	E794G	probably damaging	Het
Ndst2	A	G	14: 20,729,693 (GRCm38)	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,722,674 (GRCm38)	M90V	probably damaging	Het
Obscn	T	C	11: 59,133,278 (GRCm38)	K522R	probably benign	Het
Olfml2b	T	C	1: 170,647,844 (GRCm38)	S113P	probably benign	Het
Olfr1251	A	G	2: 89,667,079 (GRCm38)	I269T	probably benign	Het
Olfr1424	T	A	19: 12,059,615 (GRCm38)	M46L	probably benign	Het
Olfr298	T	A	7: 86,489,490 (GRCm38)	E20D	probably benign	Het
Olfr420	T	A	1: 174,159,364 (GRCm38)	M197K	possibly damaging	Het
Olfr620	T	C	7: 103,612,237 (GRCm38)	T39A	probably benign	Het
Parg	T	C	14: 32,214,554 (GRCm38)		probably benign	Het
Pde7a	C	T	3: 19,230,318 (GRCm38)	C367Y	probably damaging	Het
Pigr	T	A	1: 130,844,544 (GRCm38)	C166*	probably null	Het
Pip4k2c	A	T	10: 127,200,835 (GRCm38)		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Prkd2	A	T	7: 16,865,677 (GRCm38)		probably benign	Het
Ptprt	G	T	2: 161,812,139 (GRCm38)		probably null	Het
Rapgef5	C	T	12: 117,647,121 (GRCm38)		probably benign	Het
Retreg1	T	C	15: 25,971,670 (GRCm38)	L356P	probably benign	Het
Rnf43	A	G	11: 87,731,251 (GRCm38)	T393A	probably benign	Het
Samd3	T	C	10: 26,271,827 (GRCm38)	S467P	probably benign	Het
Scarf1	C	A	11: 75,514,403 (GRCm38)	C89*	probably null	Het
Sdk1	T	C	5: 141,242,024 (GRCm38)	L59S	probably benign	Het
Sgca	C	T	11: 94,970,686 (GRCm38)	W244*	probably null	Het
Sh3d21	T	C	4: 126,151,272 (GRCm38)	K538R	probably benign	Het
Smyd4	T	A	11: 75,391,132 (GRCm38)	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,668,776 (GRCm38)	M87T	probably benign	Het
Ssh2	T	C	11: 77,437,633 (GRCm38)	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,740,357 (GRCm38)	Y197C	probably damaging	Het
Strn3	A	G	12: 51,627,096 (GRCm38)		probably benign	Het
Tgm3	A	G	2: 130,026,757 (GRCm38)	T205A	probably benign	Het
Tll2	G	A	19: 41,113,073 (GRCm38)	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,660,944 (GRCm38)	D782Y	possibly damaging	Het
Trim10	G	A	17: 36,872,391 (GRCm38)	S193N	probably benign	Het
Ttf1	A	T	2: 29,073,950 (GRCm38)	K613*	probably null	Het
Tube1	T	A	10: 39,134,172 (GRCm38)		probably null	Het
Uimc1	T	A	13: 55,076,409 (GRCm38)		probably null	Het
Wwp2	G	T	8: 107,556,796 (GRCm38)		probably benign	Het
Zfp101	C	T	17: 33,382,444 (GRCm38)	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114 (GRCm38)	D1310G	probably benign	Het
Zfp575	A	T	7: 24,585,820 (GRCm38)	L132H	probably damaging	Het
Zmym2	T	C	14: 56,956,963 (GRCm38)	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,726,454 (GRCm38)		noncoding transcript	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67,342,488 (GRCm38)	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67,335,004 (GRCm38)	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67,361,328 (GRCm38)	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67,355,947 (GRCm38)	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67,348,006 (GRCm38)	missense	probably null	1.00
IGL01414:Myh13	APN	11	67,342,472 (GRCm38)	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67,352,068 (GRCm38)	missense	probably benign
IGL01523:Myh13	APN	11	67,347,943 (GRCm38)	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67,369,219 (GRCm38)	unclassified	probably benign
IGL01997:Myh13	APN	11	67,367,166 (GRCm38)	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67,360,274 (GRCm38)	unclassified	probably benign
IGL02478:Myh13	APN	11	67,369,378 (GRCm38)	missense	probably benign
IGL02663:Myh13	APN	11	67,354,927 (GRCm38)	nonsense	probably null
IGL02851:Myh13	APN	11	67,348,916 (GRCm38)	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67,332,541 (GRCm38)	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67,367,165 (GRCm38)	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67,334,962 (GRCm38)	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67,344,853 (GRCm38)	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67,353,585 (GRCm38)	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67,350,242 (GRCm38)	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67,351,991 (GRCm38)	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67,352,152 (GRCm38)	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67,351,951 (GRCm38)	splice site	probably benign
P0042:Myh13	UTSW	11	67,334,991 (GRCm38)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,367,237 (GRCm38)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,367,237 (GRCm38)	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67,369,295 (GRCm38)	unclassified	probably benign
R0496:Myh13	UTSW	11	67,348,815 (GRCm38)	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67,360,374 (GRCm38)	nonsense	probably null
R0595:Myh13	UTSW	11	67,344,846 (GRCm38)	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67,341,232 (GRCm38)	missense	probably damaging	0.98
R0893:Myh13	UTSW	11	67,334,601 (GRCm38)	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67,345,002 (GRCm38)	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67,356,181 (GRCm38)	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67,354,750 (GRCm38)	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67,370,921 (GRCm38)	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67,353,718 (GRCm38)	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67,370,950 (GRCm38)	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67,331,046 (GRCm38)	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67,353,674 (GRCm38)	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67,362,581 (GRCm38)	unclassified	probably benign
R1673:Myh13	UTSW	11	67,352,119 (GRCm38)	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67,341,484 (GRCm38)	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67,334,576 (GRCm38)	missense	probably benign
R2029:Myh13	UTSW	11	67,361,289 (GRCm38)	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67,350,238 (GRCm38)	missense	probably benign
R2247:Myh13	UTSW	11	67,334,558 (GRCm38)	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67,340,358 (GRCm38)	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67,364,922 (GRCm38)	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67,337,643 (GRCm38)	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67,345,044 (GRCm38)	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67,327,188 (GRCm38)	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67,358,194 (GRCm38)	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67,329,238 (GRCm38)	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67,330,889 (GRCm38)	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67,364,810 (GRCm38)	intron	probably benign
R4183:Myh13	UTSW	11	67,349,610 (GRCm38)	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67,344,881 (GRCm38)	splice site	probably null
R4639:Myh13	UTSW	11	67,341,551 (GRCm38)	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67,364,738 (GRCm38)	nonsense	probably null
R4783:Myh13	UTSW	11	67,341,270 (GRCm38)	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67,337,651 (GRCm38)	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67,327,259 (GRCm38)	nonsense	probably null
R5278:Myh13	UTSW	11	67,334,564 (GRCm38)	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67,344,790 (GRCm38)	splice site	probably null
R5479:Myh13	UTSW	11	67,348,822 (GRCm38)	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67,337,723 (GRCm38)	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67,329,275 (GRCm38)	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67,335,002 (GRCm38)	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67,360,468 (GRCm38)	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67,353,658 (GRCm38)	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67,364,730 (GRCm38)	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67,354,762 (GRCm38)	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67,362,501 (GRCm38)	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67,350,365 (GRCm38)	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67,361,400 (GRCm38)	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67,350,260 (GRCm38)	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67,350,419 (GRCm38)	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67,356,158 (GRCm38)	missense	probably benign
R6911:Myh13	UTSW	11	67,354,927 (GRCm38)	nonsense	probably null
R6997:Myh13	UTSW	11	67,327,154 (GRCm38)	nonsense	probably null
R7033:Myh13	UTSW	11	67,369,316 (GRCm38)	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67,354,740 (GRCm38)	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67,348,846 (GRCm38)	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67,332,564 (GRCm38)	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67,364,460 (GRCm38)	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67,367,711 (GRCm38)	missense
R7474:Myh13	UTSW	11	67,327,164 (GRCm38)	missense	possibly damaging	0.93
R7766:Myh13	UTSW	11	67,358,329 (GRCm38)	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67,350,341 (GRCm38)	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67,327,230 (GRCm38)	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67,340,380 (GRCm38)	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67,334,787 (GRCm38)	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67,350,287 (GRCm38)	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67,363,185 (GRCm38)	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67,364,525 (GRCm38)	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67,342,485 (GRCm38)	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67,352,134 (GRCm38)	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67,361,335 (GRCm38)	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67,361,335 (GRCm38)	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67,364,606 (GRCm38)	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67,352,059 (GRCm38)	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67,361,323 (GRCm38)	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67,362,492 (GRCm38)	missense	probably benign
R9182:Myh13	UTSW	11	67,337,753 (GRCm38)	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67,363,283 (GRCm38)	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67,352,068 (GRCm38)	missense	probably benign
R9446:Myh13	UTSW	11	67,364,499 (GRCm38)	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67,364,886 (GRCm38)	missense
R9690:Myh13	UTSW	11	67,358,368 (GRCm38)	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67,360,468 (GRCm38)	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67,358,190 (GRCm38)	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67,329,295 (GRCm38)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,364,591 (GRCm38)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,350,452 (GRCm38)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GCCTGGAAATACCTCAGGTGTCAAG -3'
(R):5'- TCCATGCCAACTCCAGTATGTGAAC -3'

Sequencing Primer
(F):5'- TACCTCAGGTGTCAAGGATGG -3'
(R):5'- TTGAACTCCACCCTCATCAGGT -3'

Posted On

2013-10-16