Mutagenetix > Incidental Mutation

Incidental Mutation 'R6911:Myh13'

539037

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

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 67354927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1095 (Q1095*)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably null
Transcript: ENSMUST00000081911
AA Change: Q1095*

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: Q1095*

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: Q1095*

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: Q1095*

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: Q1095*

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: Q1095*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,268,353	I459N	probably damaging	Het
4930407I10Rik	T	A	15: 82,063,867	M655K	probably benign	Het
Amt	G	T	9: 108,301,229		probably null	Het
Anapc7	A	T	5: 122,440,280	K443*	probably null	Het
Apcs	A	G	1: 172,894,185	V198A	probably benign	Het
Atp2a1	A	G	7: 126,456,836	V271A	probably damaging	Het
Cdh20	T	C	1: 104,984,686	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,656,215	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 57,892,014	D101G	probably damaging	Het
Coq7	T	A	7: 118,510,162	H221L	unknown	Het
Depdc5	A	T	5: 32,924,192	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,247,102	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268	H298N	probably benign	Het
Fam162a	A	G	16: 36,046,377		probably null	Het
Fancd2	A	G	6: 113,548,385	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,340,290	Q147K	probably damaging	Het
Ganab	T	A	19: 8,907,788		probably null	Het
Gfm1	T	C	3: 67,451,303	V409A	possibly damaging	Het
Gm5346	A	T	8: 43,625,109	F693I	probably benign	Het
Gnptab	G	A	10: 88,431,396	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grid1	A	T	14: 34,820,228	M1L	probably benign	Het
Helz	C	T	11: 107,619,225	T558I	probably benign	Het
Htra4	A	G	8: 25,025,705	V439A	probably damaging	Het
Kctd17	A	G	15: 78,434,006	E95G	probably damaging	Het
Kif18b	T	C	11: 102,916,380	D43G	probably damaging	Het
Lrpprc	G	A	17: 84,756,283	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,114,807	C311*	probably null	Het
Mcoln2	C	T	3: 146,192,256	T44I	probably damaging	Het
Med13l	A	G	5: 118,755,658	T2010A	possibly damaging	Het
Med23	C	T	10: 24,902,181	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Nktr	C	A	9: 121,754,326	Y93*	probably null	Het
Nox3	A	G	17: 3,685,923	S143P	probably damaging	Het
Ntrk2	A	T	13: 58,859,215	E210D	probably damaging	Het
Nup210	G	T	6: 91,030,130	A568E	probably damaging	Het
Olfr1111	T	A	2: 87,149,767	K298I	probably damaging	Het
Olfr1279	A	G	2: 111,306,273	T23A	probably benign	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr1393	A	G	11: 49,280,807	I220V	probably benign	Het
Pdlim5	T	C	3: 142,304,315	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per1	C	T	11: 69,103,257	T443M	probably damaging	Het
Plxna1	A	G	6: 89,320,974	V1774A	probably damaging	Het
Poteg	A	G	8: 27,450,298	Y165C	probably damaging	Het
Prlr	A	G	15: 10,329,184	T582A	probably benign	Het
Psma5	A	G	3: 108,265,148	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr2	T	C	13: 11,827,559	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,393,264	I328T	possibly damaging	Het
Slc12a2	G	T	18: 57,919,469	V787L	probably benign	Het
St14	C	T	9: 31,106,785	R177Q	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,644,161		probably null	Het
Ttf1	A	G	2: 29,064,851	R76G	probably benign	Het
Ube4a	C	T	9: 44,942,758	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,291,130	V792A	probably damaging	Het
Wdr11	T	C	7: 129,607,095	I430T	probably benign	Het
Xkr4	T	C	1: 3,671,321	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,803,456		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
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
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'- TTGAAGATGTCCCAGGAATCC -3'
(R):5'- AAAACTGATGTGCTGCTGAAG -3'

Sequencing Primer
(F):5'- TGAAGATGTCCCAGGAATCCATCATG -3'
(R):5'- GCTGAAGCAGAGAGGAGAAAG -3'

Posted On

2018-11-06