Mutagenetix > Incidental Mutations

Incidental Mutation 'R6454:Myh13'

519489

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

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Is this an essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67350365 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 856 (M856K)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: M856K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: M856K

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: M856K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: M856K

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: M856K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: M856K

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,628	H145P	possibly damaging	Het
Arid2	C	T	15: 96,372,413	T1469I	probably benign	Het
Atp12a	A	G	14: 56,370,833	T93A	probably benign	Het
Atp8a2	A	T	14: 60,008,499		probably null	Het
Casz1	A	T	4: 148,951,495	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,393,375	S100P	probably damaging	Het
Creld2	T	A	15: 88,823,071	C197*	probably null	Het
Csmd1	A	T	8: 15,921,150	F3055Y	probably damaging	Het
Ddx58	T	A	4: 40,220,456	I476F	probably damaging	Het
Dnah11	T	A	12: 117,916,855	E3843D	probably benign	Het
Dnah14	T	C	1: 181,783,705	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,206,808	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,864,762	I305S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Faf1	G	T	4: 109,842,334	A359S	probably benign	Het
Fam13b	A	G	18: 34,457,662		probably null	Het
Fam46b	A	G	4: 133,480,409	D37G	probably damaging	Het
Gm14496	A	T	2: 181,996,222	N363I	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm5346	G	T	8: 43,626,808	N126K	probably damaging	Het
Grm8	T	G	6: 27,363,776	H580P	possibly damaging	Het
Itih5	T	C	2: 10,240,668	F523L	probably benign	Het
Klhl1	A	T	14: 96,280,091	M383K	possibly damaging	Het
Lgi4	A	T	7: 31,060,132	T38S	probably benign	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,385,774	R127C	possibly damaging	Het
Notch2	T	C	3: 98,137,406	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,318,767	H179Q	probably damaging	Het
Nup153	T	C	13: 46,709,660		probably null	Het
Odf2l	C	A	3: 145,153,420	Q517K	possibly damaging	Het
Olfr1013	A	G	2: 85,770,373	K191E	probably benign	Het
Olfr1254	T	C	2: 89,789,178	Y58C	probably damaging	Het
Olfr1448	T	A	19: 12,920,031	N93Y	probably benign	Het
Olfr149	A	G	9: 39,701,834	*312Q	probably null	Het
Omd	A	T	13: 49,589,869	I132F	probably damaging	Het
Otog	A	G	7: 46,305,817	N544D	probably damaging	Het
Ovol3	A	G	7: 30,235,375	Y29H	probably damaging	Het
Papolb	T	C	5: 142,529,598	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,499,269	V706L	probably benign	Het
Plekhm1	G	A	11: 103,377,382	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,537,986	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827	F127L	probably damaging	Het
Rnf5	A	C	17: 34,602,309	C47W	probably damaging	Het
Sbno1	A	T	5: 124,400,847	M517K	probably damaging	Het
Slc44a5	C	T	3: 154,243,159	T188M	probably benign	Het
Smco1	A	G	16: 32,273,223	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,374,433	I77F	probably damaging	Het
Spem2	A	G	11: 69,817,428	L237P	probably damaging	Het
Spg7	A	G	8: 123,079,423	K291E	possibly damaging	Het
Tiam2	A	T	17: 3,438,663	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,876,053	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,129,018	*138R	probably null	Het
Tpst1	A	G	5: 130,102,051	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,415,840	V51D	possibly damaging	Het
Tshr	C	A	12: 91,538,549	Q754K	probably benign	Het
Ttc38	T	A	15: 85,838,822	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,634,746		probably benign	Het
Ugt2b37	T	G	5: 87,240,977	D459A	probably damaging	Het
Usp35	A	T	7: 97,311,560	N886K	probably damaging	Het
Usp35	A	T	7: 97,311,644	Y858*	probably null	Het
Wdr33	T	C	18: 31,829,975	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,997,879	T506I	possibly damaging	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
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
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
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'- AGGATGAAGATTCTGAGACCTGTC -3'
(R):5'- TCCTGGGAATCTGTACTTTGC -3'

Sequencing Primer
(F):5'- ATTCTGAGACCTGTCGGGGAG -3'
(R):5'- CTTTGCACTCTCGGGTAGAAGAAAC -3'

Posted On

2018-05-24