Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Myh13'

202745

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

045014-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 67362581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably benign
Transcript: ENSMUST00000081911

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180

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

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180

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

noncoding transcript
Transcript: ENSMUST00000122618

Predicted Effect

probably benign
Transcript: ENSMUST00000180845

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180

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: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,787,449	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,884,060	E6G	probably damaging	Het
Ankrd12	A	T	17: 65,986,274	D721E	probably benign	Het
Anpep	A	G	7: 79,838,407		probably null	Het
Apeh	A	T	9: 108,092,726		probably null	Het
Apob	A	T	12: 7,990,839	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,996,948	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,351,822	R222S	probably damaging	Het
Cdc25b	T	A	2: 131,191,137		probably benign	Het
Cdon	A	G	9: 35,452,937		probably benign	Het
Cenpf	C	T	1: 189,652,713	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,215,433		probably null	Het
Ces2b	G	T	8: 104,835,889	A284S	probably benign	Het
Clock	T	C	5: 76,242,832	D311G	probably damaging	Het
Csmd3	T	C	15: 47,695,861		probably null	Het
Dbil5	A	G	11: 76,218,482	M71V	probably benign	Het
Ddhd1	A	C	14: 45,595,547	L864R	probably damaging	Het
Ddx19a	T	C	8: 110,993,111		probably benign	Het
Dnah11	A	G	12: 118,060,317	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,514,688	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,423	M754K	probably benign	Het
Dnajc15	A	T	14: 77,826,414	S145T	probably benign	Het
Drap1	A	G	19: 5,424,257	F25S	probably damaging	Het
Fam83e	G	A	7: 45,726,711	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,953,368		probably benign	Het
Fndc3a	A	T	14: 72,556,557	I892N	probably damaging	Het
Gcn1l1	A	G	5: 115,615,552	T2321A	probably benign	Het
Gm1110	G	T	9: 26,881,126		probably benign	Het
Gm5499	T	C	17: 87,078,995		noncoding transcript	Het
Gmnc	G	T	16: 26,963,979		probably benign	Het
Greb1l	A	G	18: 10,554,997	D1681G	possibly damaging	Het
Hc	G	A	2: 35,000,765		probably benign	Het
Hmcn2	A	C	2: 31,404,887	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,600,235	K39N	probably damaging	Het
Kank2	A	G	9: 21,774,575	S668P	probably damaging	Het
Kcng1	T	A	2: 168,269,041	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,786,633		probably null	Het
Lama2	T	A	10: 27,324,754	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,402,908	I132N	probably damaging	Het
Lrmp	T	G	6: 145,158,630		probably benign	Het
Mad2l2	G	T	4: 148,142,972		probably benign	Het
Mcph1	T	C	8: 18,801,412	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315	I2366V	probably benign	Het
Moxd1	T	C	10: 24,300,319	W558R	probably damaging	Het
Myrf	T	C	19: 10,225,487	D141G	probably damaging	Het
Ncoa7	T	C	10: 30,694,101	I249M	probably damaging	Het
Obox5	T	C	7: 15,758,633	V171A	probably damaging	Het
Olfr1352	C	A	10: 78,983,986	N32K	probably damaging	Het
Olfr15	T	C	16: 3,839,657	I228T	probably damaging	Het
Olfr70	A	T	4: 43,697,134	V13D	possibly damaging	Het
Olfr818	A	G	10: 129,945,510	L69P	probably damaging	Het
Olfr988	A	T	2: 85,353,899	V9E	probably damaging	Het
Parp4	A	G	14: 56,602,295	T487A	probably damaging	Het
Pclo	A	G	5: 14,679,831		probably benign	Het
Pcnx2	G	A	8: 125,773,930	R1474C	probably damaging	Het
Prrxl1	A	G	14: 32,605,324		probably benign	Het
Qtrt2	A	G	16: 43,871,832		probably benign	Het
Sart1	G	A	19: 5,380,259	P788L	probably damaging	Het
Sdk1	A	G	5: 141,998,879	T740A	probably benign	Het
Serpinb1c	T	C	13: 32,888,996	D61G	possibly damaging	Het
Slc24a5	G	A	2: 125,080,862	G152S	probably damaging	Het
Slc6a4	A	T	11: 77,019,196	I426F	possibly damaging	Het
Stk33	C	T	7: 109,279,820	V441I	probably benign	Het
Sult1c2	A	G	17: 53,836,899		probably null	Het
Tdpoz4	T	A	3: 93,796,528	V44E	probably benign	Het
Tmprss13	C	A	9: 45,343,231	T432K	probably damaging	Het
Traf7	A	G	17: 24,510,553	L428P	probably damaging	Het
Tubb1	T	C	2: 174,457,422	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,790,347	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,845,077	I170T	possibly damaging	Het
Vmn2r116	A	T	17: 23,387,089	H325L	probably damaging	Het
Zfp516	T	A	18: 82,993,175	L1111H	possibly damaging	Het
Zfp61	C	G	7: 24,291,210	K505N	probably damaging	Het
Zfp653	C	A	9: 22,057,978	E331*	probably null	Het
Zfp949	A	T	9: 88,569,777	K467*	probably null	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67342488	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67335004	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67361328	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67355947	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67348006	missense	probably null	1.00
IGL01414:Myh13	APN	11	67342472	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67352068	missense	probably benign
IGL01523:Myh13	APN	11	67347943	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67369219	unclassified	probably benign
IGL01997:Myh13	APN	11	67367166	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67360274	unclassified	probably benign
IGL02478:Myh13	APN	11	67369378	missense	probably benign
IGL02663:Myh13	APN	11	67354927	nonsense	probably null
IGL02851:Myh13	APN	11	67348916	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67332541	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67367165	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67334962	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67344853	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67353585	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67350242	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67351991	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67352152	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67351951	splice site	probably benign
P0042:Myh13	UTSW	11	67334991	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67367237	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67367237	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67369295	unclassified	probably benign
R0496:Myh13	UTSW	11	67348815	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67360374	nonsense	probably null
R0595:Myh13	UTSW	11	67344846	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67341232	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67349610	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67334601	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67345002	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67332520	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67332520	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67332520	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67356181	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67354750	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67370921	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67353718	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67370950	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67331046	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67353674	missense	probably benign	0.43
R1673:Myh13	UTSW	11	67352119	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67341484	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67334576	missense	probably benign
R2029:Myh13	UTSW	11	67361289	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67350238	missense	probably benign
R2247:Myh13	UTSW	11	67334558	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67340358	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67364922	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67337643	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67345044	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67327188	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67358194	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67329238	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67330889	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67364810	intron	probably benign
R4183:Myh13	UTSW	11	67349610	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67344881	splice site	probably null
R4639:Myh13	UTSW	11	67341551	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67364738	nonsense	probably null
R4783:Myh13	UTSW	11	67341270	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67337651	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67327259	nonsense	probably null
R5278:Myh13	UTSW	11	67334564	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67344790	splice site	probably null
R5479:Myh13	UTSW	11	67348822	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67337723	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67329275	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67335002	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67360468	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67353658	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67364730	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67354762	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67362501	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67350365	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67361400	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67350260	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67350419	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67356158	missense	probably benign
R6911:Myh13	UTSW	11	67354927	nonsense	probably null
R6997:Myh13	UTSW	11	67327154	nonsense	probably null
R7033:Myh13	UTSW	11	67369316	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67354740	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67348846	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67332564	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67364460	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67327164	missense	possibly damaging	0.93
R7474:Myh13	UTSW	11	67367711	missense
R7766:Myh13	UTSW	11	67358329	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67350341	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67327230	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67340380	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67334787	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67350287	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67363185	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67364525	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67342485	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67352134	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67361335	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67361335	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67364606	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67352059	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67361323	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67362492	missense	probably benign
R9182:Myh13	UTSW	11	67337753	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67363283	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67352068	missense	probably benign
R9446:Myh13	UTSW	11	67364499	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67364886	missense
R9690:Myh13	UTSW	11	67358368	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67360468	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67358190	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67329295	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67350452	missense	possibly damaging	0.55
Z1177:Myh13	UTSW	11	67364591	missense	possibly damaging	0.93

Predicted Primers

Posted On

2014-06-23