Mutagenetix > Incidental Mutation

Incidental Mutation 'R7033:Myh13'

546468

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

045134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R7033 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67217929-67262413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67260142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1860 (E1860G)

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: E1860G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: E1860G

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: E1860G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: E1860G

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: E1860G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: E1860G

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: ENSMUST00000181027

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,819,374 (GRCm39)	Y105C	probably damaging	Het
Acr	T	C	15: 89,453,703 (GRCm39)	S81P	probably benign	Het
Akr1c14	T	C	13: 4,129,178 (GRCm39)		probably null	Het
Ank2	C	A	3: 126,738,499 (GRCm39)	E2375*	probably null	Het
Avpi1	A	G	19: 42,113,416 (GRCm39)	W14R	probably damaging	Het
Brd4	A	G	17: 32,417,989 (GRCm39)	V55A	probably benign	Het
Casp8ap2	A	G	4: 32,639,392 (GRCm39)	N149D	probably damaging	Het
Ccl25	A	T	8: 4,399,641 (GRCm39)		probably benign	Het
Celf5	A	G	10: 81,298,548 (GRCm39)	L299P	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cfap57	T	G	4: 118,470,323 (GRCm39)	T186P	possibly damaging	Het
Chrm4	A	G	2: 91,758,692 (GRCm39)	M367V	probably benign	Het
Col1a2	A	T	6: 4,516,904 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,528 (GRCm39)	P2242L	probably damaging	Het
Cspg4	T	C	9: 56,795,358 (GRCm39)	V1031A	probably damaging	Het
Dbnl	C	A	11: 5,748,102 (GRCm39)	P313T	probably benign	Het
Dnah1	A	G	14: 30,986,882 (GRCm39)	F3637L	probably damaging	Het
Dnah7a	A	T	1: 53,518,820 (GRCm39)	I2979N	probably damaging	Het
Dusp10	T	C	1: 183,769,802 (GRCm39)	V256A	possibly damaging	Het
Dync2i1	T	C	12: 116,175,511 (GRCm39)	M889V	probably benign	Het
Erlin2	T	C	8: 27,521,792 (GRCm39)	V164A	probably benign	Het
Fam110a	T	C	2: 151,812,131 (GRCm39)	D213G	probably damaging	Het
Fkbp1a	T	C	2: 151,399,420 (GRCm39)		probably null	Het
Foxg1	G	A	12: 49,431,503 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,826 (GRCm39)	S122G	probably benign	Het
Gm2042	A	T	12: 87,927,051 (GRCm39)	D456V	probably damaging	Het
Grin2b	A	G	6: 135,900,036 (GRCm39)	Y282H	probably damaging	Het
Gys2	T	C	6: 142,418,448 (GRCm39)	D27G	probably benign	Het
H2-DMa	T	A	17: 34,355,971 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,502,631 (GRCm39)	I4245N	possibly damaging	Het
Incenp	A	G	19: 9,870,736 (GRCm39)	Y298H	unknown	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kifc1	A	T	17: 34,102,671 (GRCm39)	V314E	probably damaging	Het
Lurap1l	C	T	4: 80,829,604 (GRCm39)	P5S	probably benign	Het
Mtmr11	A	G	3: 96,077,262 (GRCm39)	Y540C	probably damaging	Het
Muc4	C	A	16: 32,576,698 (GRCm39)		probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nbeal1	G	A	1: 60,350,106 (GRCm39)	G2385D	probably damaging	Het
Ncaph2	G	A	15: 89,255,559 (GRCm39)	A578T	probably benign	Het
Ncr1	T	C	7: 4,341,144 (GRCm39)	V8A	possibly damaging	Het
Nutm1	T	C	2: 112,086,513 (GRCm39)	T73A	probably damaging	Het
Olfm1	G	A	2: 28,119,348 (GRCm39)	D313N	probably damaging	Het
Or11h4	A	G	14: 50,974,164 (GRCm39)	F152L	possibly damaging	Het
Or13f5	A	G	4: 52,826,089 (GRCm39)	M231V	probably benign	Het
Or4a66	T	A	2: 88,531,164 (GRCm39)	N170Y	probably damaging	Het
Otog	T	A	7: 45,916,822 (GRCm39)		probably null	Het
Peak1	G	T	9: 56,166,991 (GRCm39)	D312E	probably damaging	Het
Plekhg1	T	C	10: 3,890,251 (GRCm39)	I331T	probably damaging	Het
Polr1b	T	C	2: 128,957,562 (GRCm39)	V539A	possibly damaging	Het
Polr2a	A	T	11: 69,638,039 (GRCm39)	H143Q	possibly damaging	Het
Ppargc1b	G	T	18: 61,440,785 (GRCm39)	A711D	probably damaging	Het
Prnd	T	A	2: 131,795,362 (GRCm39)	C161S	possibly damaging	Het
Prrt4	A	G	6: 29,171,147 (GRCm39)	L435P	possibly damaging	Het
Psen2	C	T	1: 180,055,085 (GRCm39)		probably null	Het
Psg23	T	C	7: 18,348,669 (GRCm39)	E46G	possibly damaging	Het
Rasgef1b	C	T	5: 99,380,195 (GRCm39)	R350H	probably damaging	Het
Rfxank	G	C	8: 70,590,820 (GRCm39)	P16A	probably benign	Het
Sema6a	A	G	18: 47,381,637 (GRCm39)	I944T	probably damaging	Het
Serpinc1	A	G	1: 160,825,091 (GRCm39)	T313A	probably benign	Het
Slc27a4	T	C	2: 29,694,283 (GRCm39)	S36P	possibly damaging	Het
Slc36a1	C	A	11: 55,114,563 (GRCm39)	R214S	probably benign	Het
Sorl1	C	T	9: 41,942,279 (GRCm39)	S982N	possibly damaging	Het
Speer1k	G	T	5: 11,000,518 (GRCm39)		probably null	Het
Syt1	A	C	10: 108,526,797 (GRCm39)	D37E	probably benign	Het
Tcl1b5	A	T	12: 105,142,750 (GRCm39)	D26V	probably damaging	Het
Tenm4	A	T	7: 96,544,430 (GRCm39)	K2149*	probably null	Het
Ubc	T	A	5: 125,465,238 (GRCm39)	I30F	probably damaging	Het
Ugt1a7c	A	T	1: 88,023,250 (GRCm39)	E136D	possibly damaging	Het
Utp20	A	G	10: 88,590,337 (GRCm39)		probably null	Het
Vmn1r159	C	T	7: 22,542,289 (GRCm39)	V248I	probably damaging	Het
Vmn2r105	T	C	17: 20,428,874 (GRCm39)	H734R	probably damaging	Het
Xrcc2	T	G	5: 25,897,707 (GRCm39)	I81L	possibly damaging	Het
Zfat	A	C	15: 68,052,864 (GRCm39)	I310S	probably damaging	Het
Zfp119a	A	G	17: 56,173,009 (GRCm39)	V278A	probably benign	Het
Zfp53	A	G	17: 21,720,508 (GRCm39)	K33E	probably benign	Het
Zfp866	G	T	8: 70,218,491 (GRCm39)	H376Q	probably damaging	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
R7145:Myh13	UTSW	11	67,245,566 (GRCm39)	missense	probably benign	0.08
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'- TCTGGGGTATACTCTGCACC -3'
(R):5'- TCTGATCAGGTTGTGGCTCC -3'

Sequencing Primer
(F):5'- CACACAGGTGCGGGAGTTG -3'
(R):5'- GGCTCCCACTCAGACCTCATG -3'

Posted On

2019-05-13