Mutagenetix > Incidental Mutations

Incidental Mutation 'R5510:Myh13'

431167

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

043071-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67337723 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 363 (N363S)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: N363S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: N363S

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: N363S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: N363S

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: N363S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: N363S

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

0.3537

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
1700014D04Rik	T	C	13: 59,742,420		probably null	Het
Adgrl4	T	G	3: 151,497,830	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,445,244	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,906,529		probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,729,693	V392A	probably benign	Het
Ap2b1	A	G	11: 83,336,737		probably null	Het
Arsg	A	G	11: 109,527,874	E232G	probably benign	Het
Axdnd1	A	G	1: 156,335,350	F144S	probably benign	Het
Bud13	T	A	9: 46,292,200	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,013	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046	T1194A	probably damaging	Het
Ccdc88c	T	C	12: 100,945,031	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,672,099	W176R	probably damaging	Het
Cenpf	A	T	1: 189,682,903	D136E	probably benign	Het
Dclk2	T	C	3: 86,906,037	I201V	possibly damaging	Het
Defa24	T	A	8: 21,734,596	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,277,175	N566D	probably damaging	Het
Dido1	C	A	2: 180,685,173	V386L	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,192,938	P141S	probably benign	Het
Fmn1	T	C	2: 113,596,369	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113	L535P	probably damaging	Het
Gimap3	T	A	6: 48,765,249	E249V	possibly damaging	Het
Git2	A	T	5: 114,743,774		probably null	Het
Gm4922	T	C	10: 18,783,997	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,828,196	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,082,118	G31S	possibly damaging	Het
Herc2	A	T	7: 56,206,771	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 31,946,747	R134C	unknown	Het
Igf1r	G	C	7: 68,193,359	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,681,459	E102G	probably damaging	Het
Kif1a	T	G	1: 93,041,692	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,848,624	L245S	probably damaging	Het
Med17	A	G	9: 15,270,404	S17P	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps18b	A	G	17: 35,914,323		probably benign	Het
Ms4a8a	A	G	19: 11,079,464	S85P	probably benign	Het
Msln	T	C	17: 25,749,873	Q487R	probably benign	Het
Myo6	T	C	9: 80,245,660	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,814,020	D688G	probably damaging	Het
Nsun4	C	T	4: 116,051,777	V529I	possibly damaging	Het
Olfr105-ps	A	T	17: 37,383,301	M245L	probably benign	Het
Olfr345	G	A	2: 36,640,963	R308K	probably benign	Het
Olfr495	G	A	7: 108,395,125	A2T	probably benign	Het
Phf11a	C	A	14: 59,279,385	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,566,847	C520Y	probably benign	Het
Plxna4	C	A	6: 32,178,358	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,521,397	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,249,627	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,272,936		probably null	Het
Prss55	T	A	14: 64,077,125	M199L	probably damaging	Het
Qrich1	G	A	9: 108,556,460	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,776,945	V47A	probably damaging	Het
Raph1	A	T	1: 60,522,946		probably benign	Het
Rgs12	T	C	5: 34,966,039	Y389H	probably damaging	Het
Sec24b	C	A	3: 130,040,895	G82V	probably damaging	Het
Sema4a	A	G	3: 88,449,986		probably null	Het
Slc25a11	A	T	11: 70,645,535	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,160,094	S340A	probably benign	Het
Slc32a1	T	A	2: 158,614,796	M457K	probably damaging	Het
Spint4	C	T	2: 164,700,892	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,738,303	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,333,395	G863D	probably damaging	Het
Tmem156	G	A	5: 65,075,574	T151M	probably benign	Het
Trip12	T	C	1: 84,768,680	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,386,121	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 10,102,618	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 85,151,815	D304E	probably benign	Het
Wdr93	T	A	7: 79,750,031	F123I	probably damaging	Het
Zfp672	A	T	11: 58,316,630	C288*	probably null	Het
Zp1	T	C	19: 10,919,405	Y90C	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
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
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'- TGGGAGAGGTTACAGCTAGTTC -3'
(R):5'- GGACAACTCAAATGCAGGGC -3'

Sequencing Primer
(F):5'- GGAGAGGTTACAGCTAGTTCTTATC -3'
(R):5'- TGCAGGGCATATAATTTTGGAAG -3'

Posted On

2016-10-05