Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Myh13'

537754

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

044935-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67356158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1235 (M1235T)

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: M1235T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: M1235T

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: M1235T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: M1235T

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: M1235T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: M1235T

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

0.0943

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,754,886		probably null	Het
Adgrv1	A	G	13: 81,557,081	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,364,723	S384G	probably benign	Het
Anxa8	A	T	14: 34,094,765	D204V	possibly damaging	Het
Asap3	A	T	4: 136,227,572	E71V	possibly damaging	Het
BC024139	T	C	15: 76,119,746	*773W	probably null	Het
Bckdhb	T	C	9: 83,953,761	V106A	possibly damaging	Het
Cep250	A	G	2: 155,981,459	D1010G	probably benign	Het
Chrd	T	A	16: 20,734,736	L243Q	probably damaging	Het
Cib2	G	T	9: 54,549,891	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,532,884	L113*	probably null	Het
Cubn	T	A	2: 13,445,029	I895L	probably benign	Het
Cyp24a1	C	A	2: 170,487,979	R351I	probably benign	Het
Cyp2a12	A	T	7: 27,034,156	D320V	possibly damaging	Het
Dact1	C	G	12: 71,317,939	P498R	probably benign	Het
Diaph1	T	A	18: 37,876,383		probably null	Het
Dnah7a	A	T	1: 53,456,704	I3198N	probably benign	Het
Dopey2	A	T	16: 93,755,485	I271F	possibly damaging	Het
Erich3	C	A	3: 154,727,437	F349L	probably damaging	Het
Fam187b	G	C	7: 30,989,290	V358L	probably benign	Het
Fat4	T	A	3: 38,983,939	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,958,627	E118D	probably benign	Het
Fgf1	A	G	18: 38,847,108	I71T	probably damaging	Het
Fryl	A	T	5: 73,065,217	I2007K	probably damaging	Het
Galnt2	C	G	8: 124,324,011	P130A	probably benign	Het
H1fx	G	A	6: 87,981,302	R19C	probably damaging	Het
Hmga2	A	C	10: 120,476,024	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,318,654		probably benign	Het
Hr	A	T	14: 70,565,374	I756F	probably damaging	Het
Hrasls5	A	T	19: 7,639,496		probably benign	Het
Hspa1b	A	T	17: 34,958,185	S275T	probably benign	Het
Ikbkap	A	G	4: 56,787,939	Y331H	probably damaging	Het
Kcnh1	T	C	1: 192,505,289	*99R	probably null	Het
Kit	C	A	5: 75,652,649	L864I	probably benign	Het
Klk14	A	T	7: 43,694,456	K196*	probably null	Het
Lmod1	A	G	1: 135,325,167	N53S	probably damaging	Het
Neurl3	T	A	1: 36,268,704	K175*	probably null	Het
Nlgn2	T	A	11: 69,825,924	K597M	probably damaging	Het
Npdc1	T	C	2: 25,409,109	M306T	probably damaging	Het
Obscn	C	T	11: 59,067,943		probably null	Het
Olfr404-ps1	T	C	11: 74,239,696	L44P	probably damaging	Het
Olfr553	G	A	7: 102,614,486	L168F	probably damaging	Het
Olfr913	T	C	9: 38,594,905	I228T	possibly damaging	Het
Pbrm1	A	T	14: 31,084,790	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,677,907		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Phf12	C	T	11: 78,022,511	Q430*	probably null	Het
Pld3	C	T	7: 27,535,897	R302H	probably damaging	Het
Plekha5	T	C	6: 140,525,858	S112P	probably benign	Het
Pmfbp1	T	A	8: 109,530,307	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,667,603	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078		probably benign	Het
Psmg2	A	T	18: 67,648,857	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824	R155G	probably damaging	Het
Rnf215	T	C	11: 4,136,609	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Rtkn2	G	A	10: 68,026,632	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,311,498	I472F	probably benign	Het
Snx14	T	C	9: 88,394,382	N617D	possibly damaging	Het
Spire2	T	C	8: 123,356,727	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,114,787	R1904M	probably damaging	Het
Swap70	A	G	7: 110,281,303	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,919,153	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,256,837	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,149,914	S207T	probably damaging	Het
Timm44	A	G	8: 4,267,282	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,181,199	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,960,470	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,105,513	L28I	probably benign	Het
Tph2	T	A	10: 115,174,106	N183I	probably benign	Het
Ttyh1	T	C	7: 4,122,529	I60T	probably damaging	Het
Ubn1	T	G	16: 5,064,547	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,598	N2019S	probably benign	Het
Wbp2	T	C	11: 116,086,910	N6D	probably benign	Het
Wdr59	T	A	8: 111,459,040	E810V	possibly damaging	Het
Wiz	T	C	17: 32,360,421	D220G	probably damaging	Het
Yipf7	A	G	5: 69,517,070	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,955,111	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,490,996		probably benign	Het
Zfp707	C	T	15: 75,969,723		probably benign	Het
Zfp788	A	G	7: 41,649,560	H540R	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
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'- CTTCAGCCCAGATCGAGATGAAC -3'
(R):5'- GCATGTGCCTTGAAAGAATTTGAAGAG -3'

Sequencing Primer
(F):5'- TTCCAGAAACTTCGAAGGGACCTG -3'
(R):5'- ATTCCACTGTTCACGTGG -3'

Posted On

2018-10-18