Mutagenetix > Incidental Mutation

Incidental Mutation 'R2029:Myh13'

221024

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

040036-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R2029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67361289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1408 (T1408S)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: T1408S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: T1408S

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: T1408S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: T1408S

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

noncoding transcript
Transcript: ENSMUST00000122618

Predicted Effect

probably benign
Transcript: ENSMUST00000180845
AA Change: T1408S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: T1408S

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: ENSMUST00000181027

Meta Mutation Damage Score

0.1722

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (97/99)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,067,624	S68*	probably null	Het
9130409I23Rik	T	A	1: 181,054,931	I86K	probably benign	Het
Adam18	C	G	8: 24,650,877	G286A	probably damaging	Het
Adcy1	G	A	11: 7,139,142	A519T	probably benign	Het
AI314180	G	A	4: 58,844,165	R534*	probably null	Het
Anxa2	T	A	9: 69,464,480	S2T	possibly damaging	Het
Ap3m1	G	A	14: 21,039,149	S261L	possibly damaging	Het
Asna1	A	T	8: 85,019,774	Y148*	probably null	Het
Baz2b	A	T	2: 59,912,723		probably benign	Het
Brdt	T	A	5: 107,359,224	S497T	probably benign	Het
Cdh11	A	G	8: 102,679,772	F23S	probably benign	Het
Cdh16	A	C	8: 104,617,802	L540R	probably damaging	Het
Ces5a	A	T	8: 93,534,577	L74Q	probably damaging	Het
Cfap69	A	G	5: 5,604,306	S543P	probably damaging	Het
Cfap74	T	C	4: 155,442,081	I763T	possibly damaging	Het
Cma1	T	A	14: 55,943,734	R58S	possibly damaging	Het
Csmd3	C	T	15: 47,838,579	D1599N	probably damaging	Het
Cyld	A	G	8: 88,745,312	K857R	probably benign	Het
Cyp3a16	T	C	5: 145,451,857	D270G	probably damaging	Het
D1Pas1	T	C	1: 186,968,089	S72P	possibly damaging	Het
Ddx3y	T	C	Y: 1,266,389	E331G	probably benign	Het
Dis3l2	T	C	1: 86,854,467		probably benign	Het
Dopey1	G	T	9: 86,521,365	W1539C	probably damaging	Het
Dopey2	A	G	16: 93,769,435	K917E	probably benign	Het
Efcab3	T	C	11: 105,100,025	I5462T	probably damaging	Het
Epo	A	G	5: 137,485,185		probably benign	Het
Figla	T	A	6: 86,020,642		probably benign	Het
Flvcr1	T	C	1: 191,021,156	D273G	probably benign	Het
Fryl	T	A	5: 73,022,122	R304*	probably null	Het
Gcm1	T	G	9: 78,065,044	D422E	possibly damaging	Het
Ggt6	A	G	11: 72,437,541	D251G	possibly damaging	Het
Git2	A	G	5: 114,766,450		probably null	Het
Gm18856	A	T	13: 13,964,791		probably benign	Het
Gm20939	T	A	17: 94,875,824		probably benign	Het
Gm5039	A	T	12: 88,321,421	S21T	unknown	Het
Gm7534	T	C	4: 134,202,358	K212R	possibly damaging	Het
Gpr176	A	G	2: 118,279,432	Y449H	probably benign	Het
H2-Eb1	A	G	17: 34,314,392	E196G	probably damaging	Het
H2-M10.6	A	G	17: 36,813,907	T239A	possibly damaging	Het
Haus5	T	C	7: 30,659,400	N237S	possibly damaging	Het
Hectd3	T	C	4: 117,000,685	M605T	probably damaging	Het
Hps3	T	C	3: 20,030,527	I166V	probably benign	Het
Ighv5-21	A	T	12: 114,322,814		probably benign	Het
Kdm6b	C	T	11: 69,403,592	G1218D	unknown	Het
Klhl30	A	G	1: 91,357,914		probably null	Het
Kmt2a	A	T	9: 44,818,450	S3523R	probably benign	Het
Lnpep	A	T	17: 17,568,399	N481K	probably damaging	Het
Lrp1b	T	C	2: 41,341,849	H1203R	probably benign	Het
Lrrc8a	C	T	2: 30,256,649	R492W	probably damaging	Het
Magel2	T	A	7: 62,380,594	V1082D	unknown	Het
Memo1	A	C	17: 74,245,054	H82Q	probably null	Het
Myh2	A	T	11: 67,194,625	N1792Y	possibly damaging	Het
Myo1e	A	T	9: 70,368,687	N728I	possibly damaging	Het
Myo1e	T	C	9: 70,378,715		probably benign	Het
Myo5c	T	C	9: 75,289,055		probably benign	Het
Olfr1205	T	A	2: 88,831,405	M96K	possibly damaging	Het
Olfr323	T	A	11: 58,625,493	L184F	probably damaging	Het
Olfr378	A	G	11: 73,425,362	V207A	probably benign	Het
Olfr578	T	A	7: 102,984,271	T298S	probably damaging	Het
Olfr594	T	C	7: 103,219,760	F14S	probably damaging	Het
Olfr715b	T	C	7: 107,106,436	I142V	probably benign	Het
Parp2	C	T	14: 50,810,086	A18V	probably benign	Het
Peli1	T	A	11: 21,148,110	C282S	probably damaging	Het
Piezo2	T	C	18: 63,118,935	M404V	possibly damaging	Het
Pkn1	T	A	8: 83,677,963	Q496L	possibly damaging	Het
Pla2r1	A	T	2: 60,431,973	F1093L	probably damaging	Het
Ppp2r3a	A	G	9: 101,145,481	V323A	probably damaging	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prg2	C	T	2: 84,981,998		probably benign	Het
Ptprb	G	A	10: 116,347,053	G1545S	probably benign	Het
Rbm19	A	G	5: 120,120,242	D174G	possibly damaging	Het
Rhbdf2	T	A	11: 116,601,148	T526S	probably damaging	Het
Rpusd4	A	G	9: 35,268,014	N42S	probably benign	Het
Ryr3	T	A	2: 112,647,016	Q4455L	possibly damaging	Het
Sema4a	G	T	3: 88,451,361	H30Q	probably damaging	Het
Skint1	G	A	4: 112,021,456		probably null	Het
Slc1a3	A	G	15: 8,645,669	V284A	probably benign	Het
Slc30a9	A	T	5: 67,339,975	K288*	probably null	Het
Slc36a1	G	T	11: 55,228,338	A380S	probably benign	Het
Slc47a1	G	A	11: 61,378,007		probably benign	Het
Snx19	A	T	9: 30,429,000	E478V	probably benign	Het
Spag6	T	C	2: 18,734,105		probably benign	Het
Stag1	A	T	9: 100,786,687	T223S	probably damaging	Het
Terb1	A	T	8: 104,498,100		probably benign	Het
Terf1	A	G	1: 15,805,946	D90G	possibly damaging	Het
Tex15	A	G	8: 33,571,274	D518G	probably damaging	Het
Tmem174	T	A	13: 98,637,038	M95L	possibly damaging	Het
Tnnt3	GTCCAGGCATCTC	GTC	7: 142,512,627		probably benign	Het
Usp28	A	G	9: 48,985,503	D8G	probably benign	Het
Vmn2r105	T	C	17: 20,224,578	T551A	probably damaging	Het
Vmn2r107	A	G	17: 20,375,287	I701V	probably benign	Het
Vmn2r13	A	C	5: 109,192,077	F11V	probably benign	Het
Vmn2r85	G	C	10: 130,425,574	S298*	probably null	Het
Wdr6	C	G	9: 108,575,355	W443S	probably damaging	Het
Wipi1	A	G	11: 109,583,190	V210A	probably damaging	Het
Zfp317	A	G	9: 19,645,236	T47A	probably benign	Het
Zfp61	T	C	7: 24,292,289	T146A	probably benign	Het
Zfp964	A	G	8: 69,663,917	E389G	unknown	Het
Zfyve16	T	C	13: 92,504,477	D1253G	probably damaging	Het
Zswim7	G	A	11: 62,267,473		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
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
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'- ATGTGCACATGACTACACAGGAC -3'
(R):5'- GTGCAGCTTAGAATGCACGTG -3'

Sequencing Primer
(F):5'- GACCCTCCACTCACATCTGGG -3'
(R):5'- GAGGAGACCACCATGTCCATG -3'

Posted On

2014-08-25