Mutagenetix > Incidental Mutations

Incidental Mutation 'R3875:Myh13'

276804

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

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R3875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67358194 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1275 (H1275Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: H1275Q

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: H1275Q

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: H1275Q

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: H1275Q

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: H1275Q

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: H1275Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (50/50)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,434,080	S72P	probably benign	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Adgrg2	A	G	X: 160,478,996	S337G	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Baz2a	T	A	10: 128,124,110	M1419K	probably damaging	Het
Cacna1g	G	A	11: 94,437,923	T1033I	probably damaging	Het
Car12	C	A	9: 66,717,552		probably benign	Het
Cpne1	G	A	2: 156,076,282	H352Y	probably damaging	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dhodh	T	C	8: 109,594,960	D310G	probably null	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Drd5	T	G	5: 38,319,814	V50G	possibly damaging	Het
Dst	C	A	1: 34,171,247	H934Q	probably damaging	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Fbxo43	A	T	15: 36,162,103	F319L	probably benign	Het
Flii	T	C	11: 60,720,492	S418G	probably benign	Het
Glyctk	T	A	9: 106,157,621	Y82F	probably damaging	Het
Gm11353	G	T	13: 26,492,668		noncoding transcript	Het
Gm6505	T	A	3: 28,765,137		noncoding transcript	Het
Gm8332	T	C	12: 88,249,706	D132G	unknown	Het
Gpr151	A	G	18: 42,578,596	V339A	probably benign	Het
H2-T22	T	C	17: 36,040,303	I296V	probably benign	Het
Igfn1	T	C	1: 135,954,614	N2831S	probably damaging	Het
Igkv13-85	A	G	6: 68,930,500	V39A	probably damaging	Het
Irx5	A	G	8: 92,360,165	T242A	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Mcoln1	A	G	8: 3,508,355	D203G	probably benign	Het
Mlph	T	C	1: 90,928,122	C57R	probably damaging	Het
Nbeal1	T	A	1: 60,194,599		probably benign	Het
Orc5	T	A	5: 22,537,566	M115L	probably benign	Het
Pcdha6	T	A	18: 36,968,066	I104N	probably damaging	Het
Plcb4	T	C	2: 136,002,632	S157P	probably damaging	Het
Polq	A	G	16: 37,074,027	D1787G	probably damaging	Het
Prkar2b	T	G	12: 31,965,123	I142L	probably benign	Het
Ptprq	A	G	10: 107,685,104	S736P	possibly damaging	Het
Qrich2	A	T	11: 116,445,651	V2046D	probably damaging	Het
Rad21	A	T	15: 51,969,965	F373I	probably damaging	Het
Rcvrn	A	G	11: 67,700,054	I155V	probably benign	Het
Rsrc2	C	T	5: 123,736,628		probably benign	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Ssc5d	A	T	7: 4,927,262	D114V	probably damaging	Het
St6gal2	C	A	17: 55,482,697	P244Q	probably benign	Het
Tarbp1	A	G	8: 126,438,799		probably benign	Het
Tmem221	T	C	8: 71,555,755		probably null	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Trim32	A	T	4: 65,613,466	I87F	possibly damaging	Het
Tti2	A	G	8: 31,151,147	K100E	probably benign	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vps13d	A	G	4: 145,190,544	Y17H	probably damaging	Het
Zfp106	T	C	2: 120,534,613	K438E	probably benign	Het
Zfp60	T	C	7: 27,749,581	I558T	probably damaging	Het
Zzef1	A	C	11: 72,889,040	I1880L	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
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
R8397:Myh13	UTSW	11	67350287	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67363185	critical splice acceptor site	probably null
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'- CCCGCACTACTGCTGATTAAAC -3'
(R):5'- AGCTGTGAAACCAGAGACTCC -3'

Sequencing Primer
(F):5'- GGTTTCATTTAGTCCAACAAGAAGCC -3'
(R):5'- GAGACTCCTTCTCTTCGACTTGGTG -3'

Posted On

2015-04-06