Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Myh13'

366738

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

042416-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67341270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 459 (I459F)

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: I459F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: I459F

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: I459F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: I459F

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: I459F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: I459F

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

0.6953

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,105,200	R54*	probably null	Het
Acsl6	A	T	11: 54,336,993	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,095,445	T6279A	probably damaging	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Ascc2	G	A	11: 4,646,653	R58H	probably benign	Het
Brinp3	A	G	1: 146,727,640		probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccdc47	T	A	11: 106,203,604	H7L	probably benign	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Cdr2	A	T	7: 120,958,421	F294I	probably benign	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,800,395	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Emsy	T	C	7: 98,646,479	N72S	possibly damaging	Het
Fam155a	T	C	8: 9,208,026	Y374C	probably damaging	Het
Fam160a1	G	T	3: 85,688,570	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Flnb	A	T	14: 7,905,701	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189	V318A	probably damaging	Het
Git1	T	G	11: 77,499,837	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915	M213I	probably benign	Het
Gm7233	A	G	14: 43,179,966	E25G	probably benign	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,268,539	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,666,193	T66M	probably damaging	Het
Ifi206	A	T	1: 173,480,866	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,393,514	T413I	probably damaging	Het
Lrrc7	A	G	3: 158,127,213		probably null	Het
Mapk11	T	C	15: 89,149,488	Y9C	probably damaging	Het
Mccc1	C	A	3: 35,975,873	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924	E40G	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Nedd4l	C	A	18: 65,172,927	D424E	probably damaging	Het
Nid1	C	T	13: 13,499,741	R902W	probably damaging	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Numa1	A	G	7: 102,013,566	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Nxf1	G	A	19: 8,766,798	A339T	probably benign	Het
Oas1b	C	A	5: 120,814,513	Q90K	probably benign	Het
Olfr1175-ps	A	G	2: 88,323,156	I183T	probably damaging	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr186	G	T	16: 59,027,897	D3E	probably benign	Het
Olfr199	G	T	16: 59,215,859	F251L	probably damaging	Het
Olfr398	A	G	11: 73,984,008	F200S	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938	T133A	probably benign	Het
Optn	T	C	2: 5,054,627	M27V	probably benign	Het
Oxgr1	T	C	14: 120,022,364	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,687,679		probably null	Het
Pdxk	A	G	10: 78,464,792	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,417,825	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,340,848	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,590,858		probably null	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Psmd1	A	G	1: 86,078,712	N267D	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rasal3	T	A	17: 32,396,781	D361V	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,852,903	D182G	probably damaging	Het
Rif1	T	C	2: 52,112,747	V2071A	probably damaging	Het
Rilp	C	T	11: 75,510,641	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,774,333	V332A	probably benign	Het
Sbpl	T	A	17: 23,953,330	D205V	unknown	Het
Scn9a	T	C	2: 66,540,623	I538V	probably benign	Het
Serpina1d	T	C	12: 103,767,824	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,409,110	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,604,742	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,855,334	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,344,006		probably null	Het
Snx13	T	A	12: 35,098,286	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,171,298	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,472,101	I67N	probably damaging	Het
Thbs1	T	C	2: 118,114,792	V282A	probably benign	Het
Tmc8	A	G	11: 117,791,605		probably null	Het
Trim11	T	A	11: 58,988,924	F284Y	probably null	Het
Ttn	G	T	2: 76,721,797	Y29419*	probably null	Het
Ttn	A	G	2: 76,769,603	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,421,733	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 86,891,473	E443G	probably damaging	Het
Usp29	A	G	7: 6,961,391	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,735,134		noncoding transcript	Het
Vmn1r85	A	T	7: 13,084,861	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,086,513	V611E	probably damaging	Het
Vmn2r97	A	T	17: 18,929,288	M313L	probably benign	Het
Zap70	T	C	1: 36,779,173	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,305,685	F451I	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
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'- GGCAACACTCAATTACTTTTGACC -3'
(R):5'- AAGTTGATGCACAGCTGCTC -3'

Sequencing Primer
(F):5'- GACCATCATGATGTCAATTTGATGC -3'
(R):5'- TGCTCCAGGCTGTTGAAC -3'

Posted On

2015-12-29