Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Myh13'

553730

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

045223-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67354740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1069 (S1069A)

Ref Sequence

ENSEMBL: ENSMUSP00000080584 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: S1069A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: S1069A

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 benign
Transcript: ENSMUST00000108684
AA Change: S1069A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: S1069A

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: ENSMUST00000180845
AA Change: S1069A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: S1069A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,070,059	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,307,053	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,200,992	E584K	probably benign	Het
Ano3	A	T	2: 110,862,860	V131D	probably benign	Het
Arhgdig	C	T	17: 26,199,363	W215*	probably null	Het
Cad	G	T	5: 31,067,612	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,135,641	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,238,231	D1681E	probably benign	Het
Cenpl	T	A	1: 161,082,912	L143H	possibly damaging	Het
Cherp	T	C	8: 72,468,386	K270E		Het
Cmss1	A	G	16: 57,311,355	I136T	probably benign	Het
Col23a1	T	C	11: 51,565,223		probably null	Het
Crnn	C	A	3: 93,148,382	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,872,844	Q149L	probably benign	Het
Dst	T	A	1: 34,189,882	N2185K	probably benign	Het
Elp2	T	A	18: 24,604,069	N25K	probably benign	Het
Ephb4	A	T	5: 137,372,046	D845V	probably damaging	Het
Esyt3	T	C	9: 99,319,574	T561A	probably damaging	Het
F3	G	T	3: 121,731,586	V159L	probably damaging	Het
Fam81a	A	T	9: 70,110,278	D128E	probably damaging	Het
Flot1	T	G	17: 35,824,943	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507	K102N	probably damaging	Het
Gm16368	G	T	12: 88,083,827	C44F	probably benign	Het
Gm6309	T	C	5: 146,170,290	Q82R	possibly damaging	Het
H13	A	G	2: 152,681,072	N102D	probably damaging	Het
Lamc2	C	G	1: 153,130,772	A878P	possibly damaging	Het
Lepr	C	T	4: 101,752,197	T327I	probably benign	Het
Lrp2	A	G	2: 69,454,808		probably null	Het
Ly86	A	G	13: 37,377,010	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,458,998	F648I	possibly damaging	Het
Muc16	G	A	9: 18,655,580	T1881I	unknown	Het
Myh4	T	A	11: 67,260,228	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,817,679	L1341*	probably null	Het
Naa25	G	T	5: 121,417,489		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapg	C	T	5: 45,670,030	A3V	possibly damaging	Het
Ncln	T	C	10: 81,488,252	H481R	probably benign	Het
Nek4	C	A	14: 30,982,348	Q607K	probably damaging	Het
Neo1	T	C	9: 58,889,179	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,909,931	N165S	probably benign	Het
Olfr1076	T	C	2: 86,508,528	L23P	probably damaging	Het
Olfr1184	C	T	2: 88,487,377	S215L	probably damaging	Het
Olfr145	A	G	9: 37,897,563	H53R	probably benign	Het
Olfr167	C	G	16: 19,514,899	V246L	probably damaging	Het
Otulin	T	C	15: 27,608,770	Y229C	probably damaging	Het
Palld	A	T	8: 61,532,017	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,505,089	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,707,728	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,721,790	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,762,997	Y373*	probably null	Het
Plxna2	G	T	1: 194,649,522	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,232,806		probably null	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Scaper	C	T	9: 55,912,111	D107N	unknown	Het
Scgb2b3	T	A	7: 31,360,148	Y67F	probably benign	Het
Scn5a	G	A	9: 119,486,371	T1757I	probably damaging	Het
Sgo2b	G	A	8: 63,928,184	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,150,678	K72R	probably damaging	Het
Smchd1	T	A	17: 71,378,207	T1409S	probably benign	Het
Stab1	A	T	14: 31,145,073		probably null	Het
Sult2b1	T	C	7: 45,733,632	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,686,753	H64Q	probably damaging	Het
Tle6	T	C	10: 81,600,076	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,535,086	V203A	probably benign	Het
Tmem45b	G	A	9: 31,429,041	T108I	probably damaging	Het
Tmf1	A	T	6: 97,176,118	D331E	probably damaging	Het
Txndc9	T	C	1: 37,990,296	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,191,752	R806S	probably benign	Het
Vmn2r59	G	A	7: 42,045,764	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,816,608	V92A	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
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
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'- AAAGAGGTACCTGGAAGCCC -3'
(R):5'- CTCCTTCCTGCAAGCAGATTG -3'

Sequencing Primer
(F):5'- GTACCTGGAAGCCCCCAAGATATC -3'
(R):5'- GCCCTTTTTTAAGGGAGG -3'

Posted On

2019-05-15