Mutagenetix > Incidental Mutation

Incidental Mutation 'R7766:Myh13'

598250

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

045822-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R7766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67358329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1292 (S1292R)

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: S1292R

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: S1292R

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: S1292R

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: S1292R

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: S1292R

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: S1292R

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,638,341	F58S	probably benign	Het
Abca2	T	A	2: 25,441,528	M1309K	probably benign	Het
Ascc1	A	T	10: 60,004,819	M1L	probably damaging	Het
Ccdc85b	A	T	19: 5,456,852	S182R	probably damaging	Het
Cnpy3	G	T	17: 46,737,235	Q185K	possibly damaging	Het
Cyp3a41a	A	G	5: 145,718,017	Y25H	probably damaging	Het
Dscam	A	T	16: 96,790,901	F725I	probably benign	Het
Duox1	T	C	2: 122,337,301	F1022L	probably benign	Het
Ednrb	A	G	14: 103,843,289	L63P	probably benign	Het
Egr4	C	T	6: 85,512,199	G293D	probably damaging	Het
Fv1	T	A	4: 147,869,270	F98I	possibly damaging	Het
Gfm2	C	T	13: 97,150,400	S169F	probably damaging	Het
Gm13089	T	A	4: 143,699,239	I45F	probably damaging	Het
Hexim2	C	G	11: 103,139,012	P297A	probably benign	Het
Hnrnpab	G	A	11: 51,601,466	T314I	unknown	Het
Ift88	T	C	14: 57,447,654	F309S	possibly damaging	Het
Ins2	T	A	7: 142,678,757	T97S	probably benign	Het
Itga2	T	C	13: 114,853,891	I905V	probably benign	Het
Itgb8	T	C	12: 119,163,359	Y720C	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205		probably null	Het
Kcna6	T	A	6: 126,739,719	D69V	probably damaging	Het
Kcp	A	G	6: 29,496,847	C588R	probably damaging	Het
Lrrc17	A	T	5: 21,561,044	T175S	probably benign	Het
Morc2b	A	T	17: 33,138,423	M125K	probably benign	Het
Ms4a4b	A	C	19: 11,449,988	M24L	probably benign	Het
Nat10	T	C	2: 103,725,707	D923G	probably benign	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Nipbl	T	C	15: 8,296,849	I2425M	probably benign	Het
Oasl1	G	T	5: 114,937,110	A410S	probably damaging	Het
Olfr1015	T	A	2: 85,785,658	I49N	probably damaging	Het
Olfr508	C	T	7: 108,630,376	S128F	probably benign	Het
Olfr646	T	A	7: 104,106,994	C238*	probably null	Het
Padi6	T	C	4: 140,730,975	K507E	probably benign	Het
Pdcl2	T	C	5: 76,317,896	N159S	probably benign	Het
Pla2g4a	T	C	1: 149,861,058	K445E	probably benign	Het
Plxnb2	A	G	15: 89,161,271	S1028P	probably benign	Het
Polb	T	C	8: 22,653,091	S30G	probably benign	Het
Slc17a6	A	T	7: 51,669,166	I519F	probably benign	Het
Tacc2	C	T	7: 130,743,598	H2582Y	probably damaging	Het
Tmem176a	A	T	6: 48,844,182		probably null	Het
Tnr	A	T	1: 159,888,310	T881S	probably benign	Het
Trp63	A	T	16: 25,868,219	R394S	probably damaging	Het
Tsga8	A	G	X: 83,487,098	L135P	unknown	Het
Ttn	T	C	2: 76,814,698	T12938A	probably damaging	Het
Ugt2b35	A	T	5: 87,001,202	D104V	possibly damaging	Het
Usp28	T	C	9: 49,035,883	S835P	probably damaging	Het
Vmn2r44	A	T	7: 8,368,220	V609E	probably damaging	Het
Zfp180	A	G	7: 24,104,659	S168G	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
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
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'- AAAGAATGTGCCGGTCTGTG -3'
(R):5'- TAAGCTACCCACCTTGCATCAG -3'

Sequencing Primer
(F):5'- TTTAACGAAATCAAAGCCAAGGATG -3'
(R):5'- TGCATCAGCCTCCCTCGAG -3'

Posted On

2019-11-26