Mutagenetix > Incidental Mutation

Incidental Mutation 'R5877:Myh13'

455612

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

044083-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R5877 (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 67353658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1007 (H1007L)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081911
AA Change: H1007L

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: H1007L

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: H1007L

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: H1007L

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: H1007L

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: H1007L

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

0.2367

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

97% (68/70)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	G	T	18: 77,643,206		probably null	Het
Adam6b	A	T	12: 113,490,202	H213L	probably damaging	Het
Alk	A	G	17: 71,967,526	W597R	probably damaging	Het
Ash1l	G	A	3: 88,981,584	V257I	probably benign	Het
Atp9b	C	T	18: 80,752,789	V957I	probably benign	Het
Birc3	A	C	9: 7,849,346	C576G	probably damaging	Het
Brca2	T	C	5: 150,543,221	M2150T	possibly damaging	Het
C3ar1	T	G	6: 122,850,622	D212A	probably benign	Het
Cacna1s	T	C	1: 136,100,667	F914S	probably damaging	Het
Camk1d	T	C	2: 5,565,665	I62V	probably benign	Het
Caskin1	T	C	17: 24,505,265	M1009T	possibly damaging	Het
Casp2	A	G	6: 42,276,637		probably benign	Het
Cd2bp2	T	A	7: 127,194,799	Y106F	probably damaging	Het
Celsr3	G	A	9: 108,845,727	C2763Y	probably damaging	Het
Cyp2g1	T	G	7: 26,816,640	L310V	possibly damaging	Het
Dusp22	G	A	13: 30,707,961	V99M	probably damaging	Het
Fam131b	G	A	6: 42,320,979	S92L	probably benign	Het
Fbxw10	A	T	11: 62,857,716	N390Y	probably damaging	Het
Flg2	A	T	3: 93,203,449	H928L	unknown	Het
Gapdhs	T	C	7: 30,732,347	T280A	probably damaging	Het
Hdac11	A	G	6: 91,157,542	K50E	probably damaging	Het
Hif3a	G	T	7: 17,051,146	A181E	probably damaging	Het
Ikbkap	A	T	4: 56,787,807	W375R	probably damaging	Het
Itgb8	A	G	12: 119,202,536	S87P	probably benign	Het
Klhl12	T	A	1: 134,483,820	Y302*	probably null	Het
Lhx1	C	A	11: 84,522,239	D30Y	probably damaging	Het
Mrpl40	A	G	16: 18,872,385	Y148H	probably damaging	Het
Nhlrc2	T	C	19: 56,570,584	I167T	probably damaging	Het
Nxpe3	A	T	16: 55,866,201	I148K	probably damaging	Het
Odf2l	A	G	3: 145,129,010		probably null	Het
Otud7b	C	T	3: 96,151,960	R347*	probably null	Het
P3h4	G	T	11: 100,414,017	H181Q	probably benign	Het
P4htm	T	A	9: 108,583,733	Y180F	possibly damaging	Het
Pcna-ps2	A	G	19: 9,284,099	I241V	probably benign	Het
Pcnx2	T	C	8: 125,753,728	S1947G	probably damaging	Het
Piezo2	T	C	18: 63,113,934	I336V	probably benign	Het
Plcd1	T	C	9: 119,076,172	D157G	probably damaging	Het
Plekhm2	A	C	4: 141,639,693	I212S	probably damaging	Het
Pmvk	G	T	3: 89,464,369	C57F	probably benign	Het
Pole	T	C	5: 110,332,463	S91P	probably benign	Het
Ppargc1b	C	G	18: 61,309,093	D591H	probably damaging	Het
Ppp4r3b	A	T	11: 29,209,356	D570V	probably damaging	Het
Pxdn	T	A	12: 30,003,046	I1074N	probably damaging	Het
Ralgapa2	A	T	2: 146,388,569	D1025E	probably damaging	Het
Ralgps1	A	G	2: 33,243,628		probably benign	Het
Rasal1	C	T	5: 120,679,070		probably benign	Het
Rps2	A	T	17: 24,720,916		probably benign	Het
Scn7a	G	C	2: 66,699,873	Y709*	probably null	Het
Skint1	T	A	4: 112,021,523	C217*	probably null	Het
Slc50a1	T	C	3: 89,269,153	Y82C	probably damaging	Het
Slc9a4	T	C	1: 40,612,263	V567A	probably benign	Het
Snx27	A	T	3: 94,502,963	W469R	probably damaging	Het
Sos2	A	G	12: 69,596,795	L937P	probably damaging	Het
Ssh1	T	C	5: 113,943,120	T728A	probably benign	Het
Tnfrsf8	G	A	4: 145,292,687	R193C	probably benign	Het
Usp33	T	A	3: 152,379,476	M583K	possibly damaging	Het
Usp33	G	A	3: 152,379,596	C623Y	probably damaging	Het
Wdfy3	T	C	5: 101,869,989	I2562V	probably damaging	Het
Wnk2	T	C	13: 49,067,306	D1175G	probably damaging	Het
Zcchc11	T	C	4: 108,512,923	V673A	probably damaging	Het
Zfp341	G	A	2: 154,632,289	E338K	probably damaging	Het
Zfp398	A	G	6: 47,840,704		probably benign	Het
Zp2	T	A	7: 120,133,339	K661N	probably null	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
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'- CTAGAGACACATAGGTAGCTAAGGC -3'
(R):5'- TCAGTGGGAACTGATGGCTC -3'

Sequencing Primer
(F):5'- GCTAAGGCAGCCATAGGTTTTG -3'
(R):5'- CACAGCTGGAATCTGGACTCAG -3'

Posted On

2017-02-10