Mutagenetix > Incidental Mutations

Incidental Mutation 'R4670:Myh13'

348374

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

041926-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 67364738 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1645 (K1645*)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000081911
AA Change: K1645*

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: K1645*

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: K1645*

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: K1645*

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 null
Transcript: ENSMUST00000180845
AA Change: K1645*

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: K1645*

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

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

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
Acsm5	T	A	7: 119,531,760		probably null	Het
Alb	T	A	5: 90,462,806	S82T	probably benign	Het
Arf4	A	G	14: 26,653,093		probably benign	Het
Arhgap22	T	C	14: 33,362,543	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,170,145	E153G	probably benign	Het
Arhgef18	T	A	8: 3,434,897	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,235,000	N647Y	probably benign	Het
Atp5c1	A	T	2: 10,059,617	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,384,325	K310R	probably damaging	Het
Cadm3	T	A	1: 173,346,446	T67S	probably damaging	Het
Cartpt	C	T	13: 99,900,080		probably null	Het
Cenpj	A	T	14: 56,553,383	V403E	possibly damaging	Het
Chst7	C	A	X: 20,060,871	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,625,152	M77L	probably benign	Het
Dnah7b	A	T	1: 46,078,524	D50V	probably damaging	Het
Galnt4	A	G	10: 99,109,298	D295G	possibly damaging	Het
Gin1	C	T	1: 97,784,840	P154S	probably damaging	Het
Gm6471	G	A	7: 142,831,623		noncoding transcript	Het
Gm6818	T	A	7: 38,402,557		noncoding transcript	Het
Gm9271	T	A	7: 39,364,310		noncoding transcript	Het
Gpam	A	G	19: 55,096,119		probably null	Het
Gpr183	T	C	14: 121,954,737	D124G	probably damaging	Het
Ift140	C	A	17: 25,098,961		probably benign	Het
Itih5	A	C	2: 10,190,369	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175	T646A	probably benign	Het
Kank1	T	C	19: 25,410,580	M511T	probably benign	Het
Krt74	A	T	15: 101,758,869		noncoding transcript	Het
Lrrc37a	A	G	11: 103,504,537	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,608,374	V672I	probably benign	Het
Lypd4	T	C	7: 24,866,726	R58G	probably benign	Het
Magi1	A	T	6: 93,686,643		probably null	Het
Mefv	T	A	16: 3,708,207	L745F	possibly damaging	Het
Naip6	A	G	13: 100,294,731		probably null	Het
Nlrp1c-ps	T	C	11: 71,280,556		noncoding transcript	Het
Nsmce3	A	T	7: 64,872,782	L46Q	probably benign	Het
Olfr1084	T	C	2: 86,639,168	D180G	possibly damaging	Het
Olfr231	T	A	1: 174,117,861	M52L	probably benign	Het
Olfr612	A	G	7: 103,539,186	V16A	possibly damaging	Het
P2ry12	T	C	3: 59,217,904		probably null	Het
Pcx	T	A	19: 4,619,888	V861E	probably damaging	Het
Pkp3	C	T	7: 141,082,699	P75S	probably benign	Het
Plscr4	T	C	9: 92,482,867		probably null	Het
Pole	A	G	5: 110,306,387	T923A	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Rhot2	A	C	17: 25,841,331		probably benign	Het
Rsrp1	A	G	4: 134,924,177	Y84C	unknown	Het
Sbf2	T	C	7: 110,335,399	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,869,754	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,254,998	T127A	possibly damaging	Het
Snx8	A	G	5: 140,355,958		probably null	Het
Spag8	A	G	4: 43,653,378		probably benign	Het
Srebf2	T	C	15: 82,192,302	F718L	probably damaging	Het
Szt2	C	G	4: 118,375,829		probably benign	Het
Traf3ip2	C	T	10: 39,639,260	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,173,665	Y62*	probably null	Het
Usp29	T	A	7: 6,962,915	S586T	possibly damaging	Het
Vasp	T	C	7: 19,264,425	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,034,971	M212V	probably benign	Het
Wipi2	G	C	5: 142,659,590	A194P	probably benign	Het
Zbtb4	T	A	11: 69,776,529	I220N	probably damaging	Het
Zcchc2	A	T	1: 105,990,266		probably benign	Het
Zfp729a	T	A	13: 67,621,415	K232*	probably null	Het
Zfp995	A	T	17: 21,887,339	M1K	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
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
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
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'- CAGGTAAAATCTGAGCTTGATCGC -3'
(R):5'- CAATGGCTAGCTGCTCCTTG -3'

Sequencing Primer
(F):5'- TCGCAAGGTCACAGAAAAGGATG -3'
(R):5'- GCTAGCTGCTCCTTGAGGTC -3'

Posted On

2015-10-08