Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Myh13'

375004

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

042486-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

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

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67337651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 339 (D339A)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably damaging
Transcript: ENSMUST00000081911
AA Change: D339A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: D339A

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 damaging
Transcript: ENSMUST00000108684
AA Change: D339A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: D339A

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 damaging
Transcript: ENSMUST00000180845
AA Change: D339A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: D339A

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

0.2417

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,367,595	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,701	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,296,929		probably null	Het
Atp7b	T	A	8: 22,028,601	I74F	probably damaging	Het
Bod1l	A	G	5: 41,819,994	Y1326H	probably benign	Het
Card11	T	C	5: 140,885,877	S690G	probably damaging	Het
Cbx3	A	G	6: 51,482,560	E169G	possibly damaging	Het
Cd28	A	T	1: 60,769,702	M192L	possibly damaging	Het
Chd6	T	C	2: 161,029,299		probably benign	Het
Cyp2c69	C	T	19: 39,877,612	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,097,293	V252E	probably damaging	Het
Dcp2	G	T	18: 44,417,592	G378C	probably benign	Het
Dip2b	A	T	15: 100,160,529	I196L	possibly damaging	Het
Erbin	G	A	13: 103,850,838	P405S	probably damaging	Het
Etv1	A	G	12: 38,831,293		probably null	Het
F830104G03Rik	T	G	3: 56,890,496	K33T	unknown	Het
Fbln2	C	A	6: 91,233,495	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,047,698	T109A	probably damaging	Het
Gm10110	T	C	14: 89,897,349		noncoding transcript	Het
Gm9949	C	T	18: 62,184,069		probably benign	Het
Grin2d	A	G	7: 45,854,615	L604P	probably damaging	Het
Gstcd	A	T	3: 133,005,553		probably benign	Het
Ifna16	A	G	4: 88,676,444	V138A	probably benign	Het
Itpr2	T	A	6: 146,325,205	N1314I	probably damaging	Het
Kitl	T	C	10: 100,080,866	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,948,568	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,838,354	N232I	probably benign	Het
Lnx1	T	C	5: 74,628,123	R111G	probably benign	Het
Lrrc41	A	G	4: 116,079,405	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,234,038	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,841,110		probably benign	Het
Lyst	T	A	13: 13,683,149	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,602,871	Y70F	probably benign	Het
Mc4r	T	C	18: 66,859,338	I235V	probably benign	Het
Med12l	G	A	3: 59,244,793	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,138,738	H20R	probably benign	Het
Ms4a1	A	T	19: 11,254,493	S173T	probably damaging	Het
Nars	A	T	18: 64,500,572	Y542*	probably null	Het
Nectin2	G	A	7: 19,717,720	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,259,395	F64L	probably benign	Het
Nrxn1	T	A	17: 91,088,177	I184F	probably benign	Het
Nxph2	C	T	2: 23,399,834	P66L	probably benign	Het
Olfr1123	C	T	2: 87,418,563	Q170*	probably null	Het
Olfr56	C	A	11: 49,134,781	F196L	probably damaging	Het
Pard3	A	T	8: 127,388,537	T579S	probably damaging	Het
Patj	A	G	4: 98,569,058	I48V	possibly damaging	Het
Paxbp1	T	C	16: 91,044,311		probably benign	Het
Pou2f3	A	T	9: 43,139,323	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 36,868,870	D17G	probably damaging	Het
Rgs8	A	G	1: 153,692,887		probably benign	Het
Rnd3	A	G	2: 51,148,750	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,026,171	R247G	probably benign	Het
Sec31b	A	T	19: 44,535,733	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,614,815	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,781,758	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,702,523	L597P	probably damaging	Het
Srr	G	T	11: 74,907,780		probably benign	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Tgif1	A	C	17: 70,849,705		probably null	Het
Tle3	A	T	9: 61,373,499		probably benign	Het
Tubgcp4	A	G	2: 121,189,862	T439A	probably benign	Het
Twist1	C	T	12: 33,958,351	T125M	probably damaging	Het
Unc13a	T	A	8: 71,658,616	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,735,145		noncoding transcript	Het
Vps72	G	T	3: 95,118,187		probably benign	Het
Zfp184	T	C	13: 21,960,328	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,295,688	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,403,251	H678R	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
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'- TGGGAGAGGTTACAGCTAGTTC -3'
(R):5'- GTATCTCACACAGCCTAGGC -3'

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

Posted On

2016-03-17