Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Myh13'

43955

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

038692-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R0496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67348815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 730 (N730K)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably damaging
Transcript: ENSMUST00000081911
AA Change: N730K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: N730K

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 damaging
Transcript: ENSMUST00000108684
AA Change: N730K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: N730K

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 damaging
Transcript: ENSMUST00000180845
AA Change: N730K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: N730K

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,244	K1065E	probably damaging	Het
4932438A13Rik	A	G	3: 36,987,635	T2721A	probably damaging	Het
4933402N03Rik	T	C	7: 131,146,131	N44S	probably benign	Het
Abca13	A	G	11: 9,291,701	D1188G	probably benign	Het
Abcb11	C	T	2: 69,277,884		probably benign	Het
Abcc8	A	T	7: 46,108,820	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,341,198	C827Y	probably damaging	Het
Agap3	T	A	5: 24,501,243	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,473,041	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,472,938		probably benign	Het
Arhgef40	A	T	14: 52,004,907		probably benign	Het
Atad5	A	G	11: 80,100,356	I692V	probably benign	Het
Atp5b	G	T	10: 128,086,174	R310L	possibly damaging	Het
AY358078	A	T	14: 51,803,532	M103L	unknown	Het
Bcl9l	T	G	9: 44,509,518	V1370G	probably benign	Het
Bglap3	T	A	3: 88,369,137	Q38L	probably damaging	Het
Cd38	T	C	5: 43,868,891	F6L	probably damaging	Het
Cela3a	A	C	4: 137,404,468	V138G	probably damaging	Het
Clvs1	T	A	4: 9,424,241	I229N	probably damaging	Het
Cpne1	G	A	2: 156,079,419	H16Y	probably damaging	Het
Ctc1	T	C	11: 69,035,507	L1069P	probably damaging	Het
Ctgf	G	T	10: 24,597,515	M317I	possibly damaging	Het
Dgkd	G	A	1: 87,936,900	S996N	probably null	Het
Dnah9	A	T	11: 66,075,135	M1685K	probably null	Het
Dnajb12	C	T	10: 59,879,801	R42*	probably null	Het
Dock5	T	C	14: 67,817,518	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180	M868T	probably benign	Het
Enpp1	G	T	10: 24,672,052	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292	D152E	probably damaging	Het
Fancd2	T	C	6: 113,555,130		probably benign	Het
Gart	G	A	16: 91,623,037		probably benign	Het
Gm10964	A	T	3: 103,739,429		probably null	Het
Gm7075	G	T	10: 63,421,602	C46*	probably null	Het
Gpbar1	T	C	1: 74,278,981	F128L	probably benign	Het
Gsx2	T	A	5: 75,077,065	M226K	probably benign	Het
Gucd1	T	C	10: 75,511,266	D50G	possibly damaging	Het
Has1	A	G	17: 17,843,746	Y544H	probably benign	Het
Hc	A	T	2: 35,013,571	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Ift122	T	A	6: 115,905,902	H659Q	probably benign	Het
Itga2	T	C	13: 114,853,899	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,434,701	K181E	possibly damaging	Het
Jak3	A	T	8: 71,682,397	H558L	probably damaging	Het
Kcnh8	A	G	17: 52,725,858	T58A	probably benign	Het
Klhl6	GT	G	16: 19,956,966	279	probably null	Het
Krt33a	C	T	11: 100,012,329		probably benign	Het
Magi2	A	T	5: 20,661,359		probably benign	Het
Map4	G	A	9: 110,039,850		probably benign	Het
Map4k4	T	A	1: 40,006,822	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 24,914,450		probably benign	Het
Mib1	A	G	18: 10,804,773	S918G	probably benign	Het
Mipol1	T	A	12: 57,457,177	V377D	probably damaging	Het
Mlh1	T	C	9: 111,241,556	T364A	probably benign	Het
Mta1	C	T	12: 113,131,321	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,090,006	R806G	probably benign	Het
Myom1	A	G	17: 71,084,306	K937E	probably damaging	Het
Naxd	T	C	8: 11,510,224		probably benign	Het
Negr1	G	T	3: 157,016,267	K159N	probably damaging	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1170	A	T	2: 88,224,155	Y292*	probably null	Het
Olfr137	A	G	17: 38,304,658	S268P	probably damaging	Het
Olfr397	T	C	11: 73,964,880	S91P	probably benign	Het
Olfr584	T	C	7: 103,085,590	I19T	probably damaging	Het
Olfr620	C	T	7: 103,611,997	A119T	probably benign	Het
Pcsk6	G	A	7: 65,927,249	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,150,570	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,568,714	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,929,430	H474N	probably damaging	Het
Pltp	A	G	2: 164,852,461		probably benign	Het
Qtrt1	C	T	9: 21,419,548	T324M	probably benign	Het
Racgap1	A	T	15: 99,639,832		probably benign	Het
Rhbg	A	G	3: 88,254,498	V50A	probably benign	Het
Rnf135	G	A	11: 80,183,950	V12M	probably damaging	Het
Rufy2	T	C	10: 62,993,170	V117A	probably damaging	Het
Safb	A	G	17: 56,605,630	M866V	probably benign	Het
Slc35c2	G	T	2: 165,280,815	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,029,538	L377P	probably damaging	Het
Slit1	G	A	19: 41,608,311		probably benign	Het
Spaca9	G	A	2: 28,693,010	H133Y	probably damaging	Het
Spout1	A	G	2: 30,174,971	F339S	probably benign	Het
St6gal2	A	G	17: 55,482,014	I16M	probably damaging	Het
Stat2	T	C	10: 128,276,509	M6T	probably benign	Het
Swt1	T	A	1: 151,411,270	H157L	probably benign	Het
Syne2	A	G	12: 76,038,940	N147D	possibly damaging	Het
Tmem2	A	T	19: 21,797,345	N117I	possibly damaging	Het
Tmem222	A	T	4: 133,277,591	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,777,285	H95L	probably damaging	Het
Tns3	A	C	11: 8,547,262		probably benign	Het
Trpm3	A	G	19: 22,698,778	I103V	probably benign	Het
Ube2n	T	C	10: 95,541,344	F57S	probably benign	Het
Vil1	T	C	1: 74,421,340	S219P	possibly damaging	Het
Wdfy4	A	G	14: 33,140,738		probably benign	Het
Wdr7	T	C	18: 63,791,843	S966P	probably benign	Het
Wnt8a	A	G	18: 34,544,847	N103D	probably damaging	Het
Zfp523	G	A	17: 28,200,445	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,109,980	D418E	probably benign	Het
Zscan20	A	G	4: 128,591,889	V192A	probably benign	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
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
R1574:Myh13	UTSW	11	67362581	unclassified	probably benign
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

PCR Primer
(F):5'- TCCAGGTCAGAGAAGAGCCATTTCC -3'
(R):5'- TGCAAGACCAGGCTGCTCAAGTTG -3'

Sequencing Primer
(F):5'- AGAGCCATTTCCTCTGAAGG -3'
(R):5'- TTGACTGGAAGAAGAATGACCC -3'

Posted On

2013-05-29