Mutagenetix > Incidental Mutations

Incidental Mutation 'R8397:Myh13'

647673

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

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67350287 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 830 (H830R)

Ref Sequence

ENSEMBL: ENSMUSP00000080584 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081911
AA Change: H830R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: H830R

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

possibly damaging
Transcript: ENSMUST00000108684
AA Change: H830R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: H830R

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

possibly damaging
Transcript: ENSMUST00000180845
AA Change: H830R

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: H830R

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,040,513	T499A	probably benign	Het
Ahsa1	G	T	12: 87,273,677	E311*	probably null	Het
Apol9a	C	T	15: 77,404,613	V185I	probably benign	Het
Arhgap27	T	A	11: 103,333,247	D580V	probably damaging	Het
Arpp21	A	C	9: 112,149,372	S298A	possibly damaging	Het
B4galnt2	T	A	11: 95,866,163	T481S	probably benign	Het
Cct8	G	A	16: 87,493,763	R59C	possibly damaging	Het
Cdhr5	C	T	7: 141,271,888	G501E	possibly damaging	Het
Chka	G	A	19: 3,852,414		probably null	Het
Cit	C	A	5: 115,886,797	N366K	probably benign	Het
Dennd4a	A	T	9: 64,889,109	M806L	probably benign	Het
Dhx9	T	A	1: 153,468,911	H510L	probably damaging	Het
Esyt3	C	T	9: 99,327,913	V305I	probably benign	Het
Fbxo40	A	T	16: 36,970,623	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,732,647	M160V	probably damaging	Het
Frem2	A	G	3: 53,653,141	V1315A	probably benign	Het
Gbp9	T	A	5: 105,083,598	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,061,305	S249A	probably damaging	Het
Gm14418	T	A	2: 177,387,293	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,259,894	P295Q	probably damaging	Het
Kdm2b	T	C	5: 122,880,516	N954D	probably benign	Het
Klf15	C	T	6: 90,466,796	H118Y	probably damaging	Het
Lrit2	G	T	14: 37,069,077	A238S	probably damaging	Het
Man2c1	A	C	9: 57,135,499	M218L	probably benign	Het
Map3k1	T	A	13: 111,755,604	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,722,362	S971P	probably benign	Het
Map4k3	C	T	17: 80,664,017	V74I	probably damaging	Het
Mars	A	T	10: 127,300,499	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,544,318	S327R	possibly damaging	Het
Mkks	G	A	2: 136,881,003	T78M	possibly damaging	Het
Mst1	C	T	9: 108,081,499		probably benign	Het
Myh1	G	T	11: 67,221,639	A1811S	probably damaging	Het
Nek4	A	G	14: 30,970,548	D443G	possibly damaging	Het
Nf1	T	C	11: 79,547,692	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049		probably null	Het
Nos1ap	G	T	1: 170,327,625	P220T	unknown	Het
Nrxn3	T	A	12: 90,331,809	I368N	probably benign	Het
Nup133	T	A	8: 123,922,417	Q562L	probably benign	Het
Nup214	T	A	2: 31,990,254	L342Q	probably damaging	Het
Nxn	A	G	11: 76,272,406	S264P	probably damaging	Het
Olfr739	G	T	14: 50,424,680	D54Y	probably damaging	Het
Otud4	T	C	8: 79,669,298	S567P	probably benign	Het
Patl2	A	C	2: 122,125,273	S261A	probably damaging	Het
Pcdh15	C	T	10: 74,291,033	P315S	probably damaging	Het
Pcm1	T	A	8: 41,283,579	H827Q	probably damaging	Het
Pirb	G	A	7: 3,716,046	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,489,769	H236L	probably damaging	Het
Prkd1	C	T	12: 50,392,892	G384E	probably benign	Het
Rmnd1	C	A	10: 4,427,278	E134*	probably null	Het
Rusc2	T	A	4: 43,424,206	H1090Q	possibly damaging	Het
Sema5b	A	C	16: 35,651,321	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,975,998	I301L	probably benign	Het
Slc38a11	C	T	2: 65,330,291	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,289,326		probably null	Het
Slc7a6	T	C	8: 106,193,533	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,199,768	I837T	probably benign	Het
Spag1	C	T	15: 36,197,749	R286*	probably null	Het
Tlr3	A	T	8: 45,398,859	F334I	possibly damaging	Het
Unc13b	A	G	4: 43,217,290	I530V	probably benign	Het
Vmn2r68	T	C	7: 85,237,514	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,456,256	Y239N	probably 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
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
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
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
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'- CTCTGCAATGCTTAGGTGTACC -3'
(R):5'- ACAGACTGGACTTGCAACTG -3'

Sequencing Primer
(F):5'- GTGTACCACCTCCTACCCAG -3'
(R):5'- CTGGACTTGCAACTGAAGGTC -3'

Posted On

2020-09-02