Mutagenetix > Incidental Mutations

Incidental Mutation 'R5250:Myh13'

398961

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

042821-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R5250 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 67327259 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 53 (Q53*)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000081911
AA Change: Q53*

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: Q53*

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 null
Transcript: ENSMUST00000108684
AA Change: Q53*

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: Q53*

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 null
Transcript: ENSMUST00000180845
AA Change: Q53*

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: Q53*

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

0.9654

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	C	A	11: 97,772,727	W99L	possibly damaging	Het
4930430A15Rik	T	G	2: 111,228,077	T124P	possibly damaging	Het
Adamtsl1	A	T	4: 86,216,945	K236*	probably null	Het
Adgre5	A	G	8: 83,733,440	V109A	probably benign	Het
Adora2a	T	C	10: 75,326,048	I7T	probably damaging	Het
Ankrd6	A	G	4: 32,860,335	V36A	probably damaging	Het
Arhgef2	T	C	3: 88,633,648		probably null	Het
Atg14	G	A	14: 47,568,199	R70C	probably damaging	Het
Atg2b	G	A	12: 105,635,765	R1651W	probably damaging	Het
Atp6v0a1	T	A	11: 101,043,044	V553D	possibly damaging	Het
Bard1	G	A	1: 71,074,563	L420F	probably damaging	Het
BC067074	A	G	13: 113,319,771	N784D	possibly damaging	Het
Bcat1	C	G	6: 145,047,439		probably null	Het
Bpifb5	A	T	2: 154,224,961	N45Y	probably benign	Het
Btbd17	G	T	11: 114,791,408		probably benign	Het
Ccdc24	T	C	4: 117,869,629	T296A	possibly damaging	Het
Col11a1	A	G	3: 114,217,170		probably benign	Het
Dhx38	A	T	8: 109,556,520	V555D	probably damaging	Het
Dixdc1	T	G	9: 50,683,735	E230A	possibly damaging	Het
Dnah7b	T	G	1: 46,373,354	V4041G	probably damaging	Het
Dnhd1	A	T	7: 105,685,761	I1021L	probably damaging	Het
Fgl2	A	G	5: 21,375,523	S288G	possibly damaging	Het
Flt4	T	A	11: 49,630,400	I412N	possibly damaging	Het
Gabrb1	A	G	5: 71,869,579	I141V	possibly damaging	Het
Gpc2	A	G	5: 138,278,968	Y66H	probably damaging	Het
Hoxd3	C	T	2: 74,744,306	Q99*	probably null	Het
Inpp5d	T	C	1: 87,709,675	V781A	probably damaging	Het
Larp4b	T	C	13: 9,170,977		probably benign	Het
Lrrfip1	T	A	1: 91,115,896	S674R	possibly damaging	Het
Megf6	A	G	4: 154,256,010	T561A	possibly damaging	Het
Mpo	A	T	11: 87,803,433	Q83L	probably benign	Het
Mucl2	T	C	15: 103,897,467	N75D	possibly damaging	Het
Myot	T	A	18: 44,346,070	D291E	probably damaging	Het
Nae1	A	G	8: 104,530,391		probably null	Het
Ncoa2	A	T	1: 13,224,689	S2R	probably damaging	Het
Nktr	T	A	9: 121,749,792		probably benign	Het
Nrxn1	A	G	17: 90,535,441		probably benign	Het
Olfr115	A	G	17: 37,609,960	S264P	probably damaging	Het
Olfr1437	T	C	19: 12,322,066	T254A	probably benign	Het
Olfr432	T	G	1: 174,051,272	F300V	probably benign	Het
P2rx2	T	C	5: 110,341,588	E160G	probably damaging	Het
Pcdhga11	A	T	18: 37,757,937	D666V	probably damaging	Het
Pcm1	A	T	8: 41,312,205	E1484D	probably damaging	Het
Pdia4	C	T	6: 47,796,685	A577T	possibly damaging	Het
Ppm1e	T	C	11: 87,230,918	I738V	probably benign	Het
Ppp1r13b	G	T	12: 111,844,960	R165S	probably benign	Het
Rasgrp2	T	C	19: 6,404,313	W129R	probably damaging	Het
Smurf2	A	G	11: 106,856,179		probably null	Het
Ubr2	G	T	17: 46,930,442	Q1729K	probably benign	Het
Zfp260	T	A	7: 30,104,967	H97Q	probably damaging	Het
Zfp429	G	T	13: 67,390,519	R269S	probably benign	Het
Zfp568	T	C	7: 30,017,230	V185A	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
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
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
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'- GCTCAAGCCTCAGAAGTCCC -3'
(R):5'- ACTGGCAGCCTTCTCTAGC -3'

Sequencing Primer
(F):5'- TCAGAAGTCCCCATCTTTTCAG -3'
(R):5'- TCTAGCTCCTCCACCACAGAATG -3'

Posted On

2016-07-06