Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Myh13'

428745

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

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 67344790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably null
Transcript: ENSMUST00000081911

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180

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

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180

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

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180

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

0.9755

Coding Region Coverage

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

Validation Efficiency

96% (71/74)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,562,493		noncoding transcript	Het
Arpp21	G	A	9: 112,065,932	P755S	probably benign	Het
Aspm	C	T	1: 139,470,541	Q982*	probably null	Het
Atp5e	C	T	2: 174,462,526		probably benign	Het
BC024139	A	G	15: 76,120,686	*598Q	probably null	Het
Bcl6	T	A	16: 23,969,986	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,280,730	D195E	probably damaging	Het
Cd38	A	G	5: 43,868,883	N3S	probably benign	Het
Cfap46	A	T	7: 139,632,181		probably null	Het
Cmtr2	T	C	8: 110,221,412	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378	F449S	probably damaging	Het
Dnah10	C	T	5: 124,743,629	A509V	probably benign	Het
Dsp	A	T	13: 38,194,889	Q1271L	probably damaging	Het
E330021D16Rik	T	A	6: 136,401,373	Y153F	probably benign	Het
Edar	A	C	10: 58,607,452	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,151,301	V294A	probably damaging	Het
Gba	T	A	3: 89,205,471	V140E	probably benign	Het
Gm12185	A	T	11: 48,915,739	S208R	probably benign	Het
Gm21028	C	A	7: 42,578,522	E23*	probably null	Het
Gm6871	A	G	7: 41,573,568	L32P	probably benign	Het
Hhip	C	T	8: 79,997,591	V341M	probably damaging	Het
Kcnq2	C	A	2: 181,135,020	V25L	probably damaging	Het
Krit1	C	A	5: 3,831,551	H548N	probably damaging	Het
Kynu	C	T	2: 43,589,394	A100V	probably benign	Het
Lpp	T	C	16: 24,889,804	C295R	probably damaging	Het
Mdp1	A	G	14: 55,660,349	V9A	probably damaging	Het
Mllt3	T	C	4: 87,840,856	I318M	possibly damaging	Het
Mpzl3	A	G	9: 45,055,212		probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423	V16A	probably benign	Het
Myh4	A	T	11: 67,259,324	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,490,817		probably null	Het
Olfr1173	C	A	2: 88,274,632	C139F	probably damaging	Het
Olfr156	A	T	4: 43,821,058	M101K	probably damaging	Het
Olfr573-ps1	T	A	7: 102,942,512	M22L	probably benign	Het
Olfr908	CACAACAACA	CACAACA	9: 38,516,138		probably benign	Het
Parp11	T	C	6: 127,470,792	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,808,454	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,485,988	F234L	probably damaging	Het
Rras2	A	T	7: 114,050,337	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,579,913		probably benign	Het
Scg3	T	C	9: 75,661,301	T390A	probably damaging	Het
Shh	C	A	5: 28,466,690	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,949,268	K119R	unknown	Het
Speg	G	T	1: 75,431,393	R3244L	possibly damaging	Het
Spns1	A	G	7: 126,373,764		probably benign	Het
Sptbn4	A	C	7: 27,359,741		probably null	Het
Stap1	T	A	5: 86,096,516	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,519,535	M76K	unknown	Het
Tjp1	A	T	7: 65,313,311	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,727,366	C14S	probably benign	Het
Tnfrsf14	T	C	4: 154,922,477		probably null	Het
Tsfm	A	C	10: 127,011,643	V193G	probably benign	Het
Ush2a	A	T	1: 188,443,070	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,847,057	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,069,753	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,901,278	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,451,541	N141S	probably benign	Het
Zcchc4	T	G	5: 52,785,170	C106G	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
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'- AAGAGGACTGTCTTCCTACACC -3'
(R):5'- GCACATCTCTCTTAGTGCATGC -3'

Sequencing Primer
(F):5'- GGACTGTCTTCCTACACCAAGAGTG -3'
(R):5'- TGCCATTTCACTGGACAGAG -3'

Posted On

2016-09-06