Mutagenetix > Incidental Mutation

Incidental Mutation 'R0584:Myh13'

56569

Institutional Source

Beutler Lab

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, MyHC-eo, extraocular myosin

MMRRC Submission

038774-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R0584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67217929-67262413 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 67251200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1360 (E1360*)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably null
Transcript: ENSMUST00000081911
AA Change: E1360*

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: E1360*

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 null
Transcript: ENSMUST00000108684
AA Change: E1360*

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: E1360*

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 null
Transcript: ENSMUST00000180845
AA Change: E1360*

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: E1360*

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

0.9754

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 93.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,847,564 (GRCm39)	S1745P	probably damaging	Het
Agfg2	G	A	5: 137,665,992 (GRCm39)	T89I	probably damaging	Het
Agtr1a	A	G	13: 30,565,017 (GRCm39)	I27M	probably damaging	Het
Armh1	A	T	4: 117,087,047 (GRCm39)	L206Q	probably damaging	Het
Asxl2	A	T	12: 3,546,632 (GRCm39)	E472V	probably damaging	Het
Atp2c2	T	A	8: 120,465,157 (GRCm39)	V313E	probably benign	Het
Casp12	A	G	9: 5,352,268 (GRCm39)	I87V	probably null	Het
Ccl25	C	T	8: 4,404,085 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,263,571 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,078 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,881,315 (GRCm39)	Y2587H	probably damaging	Het
Dppa3	T	C	6: 122,606,951 (GRCm39)	I147T	probably benign	Het
Fam120b	T	C	17: 15,622,384 (GRCm39)	S121P	probably damaging	Het
Fam209	C	T	2: 172,316,081 (GRCm39)	T152M	probably benign	Het
Fam98a	A	G	17: 75,851,772 (GRCm39)	L103P	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fitm1	T	C	14: 55,814,113 (GRCm39)	V203A	probably benign	Het
Gcn1	G	A	5: 115,733,074 (GRCm39)	R1037Q	probably damaging	Het
Gm11563	A	G	11: 99,549,451 (GRCm39)	I101T	unknown	Het
Gpd1l	A	G	9: 114,743,412 (GRCm39)	F163L	probably damaging	Het
Grp	C	A	18: 66,006,766 (GRCm39)	A30E	possibly damaging	Het
H1f7	C	A	15: 98,154,958 (GRCm39)	E64*	probably null	Het
Icosl	T	C	10: 77,907,709 (GRCm39)	Y90H	possibly damaging	Het
Itsn2	A	G	12: 4,747,180 (GRCm39)	T1194A	probably benign	Het
Lrp6	A	G	6: 134,433,039 (GRCm39)	S1431P	probably damaging	Het
Ltbp1	T	C	17: 75,670,467 (GRCm39)	S1503P	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Nop58	A	G	1: 59,745,919 (GRCm39)	D400G	probably benign	Het
Or5p79	T	C	7: 108,221,622 (GRCm39)	L201P	probably benign	Het
Or6c205	T	C	10: 129,086,817 (GRCm39)	V138A	probably benign	Het
Oscp1	A	G	4: 125,977,387 (GRCm39)		probably null	Het
Pde9a	A	T	17: 31,678,951 (GRCm39)	Y264F	probably damaging	Het
Pkhd1	T	A	1: 20,309,660 (GRCm39)	K2763*	probably null	Het
Prkci	T	A	3: 31,079,289 (GRCm39)	C42*	probably null	Het
Ptprr	T	C	10: 116,087,063 (GRCm39)	V270A	probably damaging	Het
Rsf1	T	A	7: 97,311,335 (GRCm39)	N688K	possibly damaging	Het
S1pr3	A	T	13: 51,573,697 (GRCm39)	M293L	probably benign	Het
Scn10a	A	C	9: 119,499,597 (GRCm39)	L232R	probably damaging	Het
Sirt5	T	A	13: 43,548,204 (GRCm39)		probably null	Het
Sp6	C	T	11: 96,913,091 (GRCm39)	T268M	probably damaging	Het
Spag5	A	G	11: 78,194,921 (GRCm39)	N76S	possibly damaging	Het
Tecta	T	C	9: 42,259,204 (GRCm39)	N1560D	possibly damaging	Het
Togaram1	T	C	12: 65,014,279 (GRCm39)	L510P	probably damaging	Het
Umps	A	G	16: 33,779,494 (GRCm39)	I401T	probably damaging	Het
Vars2	A	G	17: 35,977,578 (GRCm39)	V118A	possibly damaging	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67,233,314 (GRCm39)	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67,225,830 (GRCm39)	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67,252,154 (GRCm39)	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67,246,773 (GRCm39)	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67,238,832 (GRCm39)	missense	probably null	1.00
IGL01414:Myh13	APN	11	67,233,298 (GRCm39)	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67,242,894 (GRCm39)	missense	probably benign
IGL01523:Myh13	APN	11	67,238,769 (GRCm39)	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67,260,045 (GRCm39)	unclassified	probably benign
IGL01997:Myh13	APN	11	67,257,992 (GRCm39)	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67,251,100 (GRCm39)	unclassified	probably benign
IGL02478:Myh13	APN	11	67,260,204 (GRCm39)	missense	probably benign
IGL02663:Myh13	APN	11	67,245,753 (GRCm39)	nonsense	probably null
IGL02851:Myh13	APN	11	67,239,742 (GRCm39)	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67,223,367 (GRCm39)	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67,257,991 (GRCm39)	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67,225,788 (GRCm39)	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67,235,679 (GRCm39)	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67,244,411 (GRCm39)	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67,241,068 (GRCm39)	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67,242,817 (GRCm39)	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67,242,978 (GRCm39)	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67,242,777 (GRCm39)	splice site	probably benign
P0042:Myh13	UTSW	11	67,225,817 (GRCm39)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,258,063 (GRCm39)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,258,063 (GRCm39)	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67,260,121 (GRCm39)	unclassified	probably benign
R0496:Myh13	UTSW	11	67,239,641 (GRCm39)	missense	probably damaging	1.00
R0595:Myh13	UTSW	11	67,235,672 (GRCm39)	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67,232,058 (GRCm39)	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67,240,436 (GRCm39)	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67,225,427 (GRCm39)	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67,235,828 (GRCm39)	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67,247,007 (GRCm39)	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67,245,576 (GRCm39)	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67,261,747 (GRCm39)	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67,244,544 (GRCm39)	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67,261,776 (GRCm39)	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67,221,872 (GRCm39)	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67,244,500 (GRCm39)	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67,253,407 (GRCm39)	unclassified	probably benign
R1673:Myh13	UTSW	11	67,242,945 (GRCm39)	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67,232,310 (GRCm39)	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67,225,402 (GRCm39)	missense	probably benign
R2029:Myh13	UTSW	11	67,252,115 (GRCm39)	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67,241,064 (GRCm39)	missense	probably benign
R2247:Myh13	UTSW	11	67,225,384 (GRCm39)	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67,231,184 (GRCm39)	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67,255,748 (GRCm39)	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67,228,469 (GRCm39)	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67,235,870 (GRCm39)	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67,218,014 (GRCm39)	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67,249,020 (GRCm39)	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67,220,064 (GRCm39)	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67,221,715 (GRCm39)	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67,255,636 (GRCm39)	intron	probably benign
R4183:Myh13	UTSW	11	67,240,436 (GRCm39)	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67,235,707 (GRCm39)	splice site	probably null
R4639:Myh13	UTSW	11	67,232,377 (GRCm39)	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67,255,564 (GRCm39)	nonsense	probably null
R4783:Myh13	UTSW	11	67,232,096 (GRCm39)	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67,228,477 (GRCm39)	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67,218,085 (GRCm39)	nonsense	probably null
R5278:Myh13	UTSW	11	67,225,390 (GRCm39)	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67,235,616 (GRCm39)	splice site	probably null
R5479:Myh13	UTSW	11	67,239,648 (GRCm39)	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67,228,549 (GRCm39)	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67,220,101 (GRCm39)	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67,225,828 (GRCm39)	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67,251,294 (GRCm39)	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67,244,484 (GRCm39)	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67,255,556 (GRCm39)	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67,245,588 (GRCm39)	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67,253,327 (GRCm39)	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67,241,191 (GRCm39)	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67,252,226 (GRCm39)	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67,241,086 (GRCm39)	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67,241,245 (GRCm39)	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67,246,984 (GRCm39)	missense	probably benign
R6911:Myh13	UTSW	11	67,245,753 (GRCm39)	nonsense	probably null
R6997:Myh13	UTSW	11	67,217,980 (GRCm39)	nonsense	probably null
R7033:Myh13	UTSW	11	67,260,142 (GRCm39)	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67,245,566 (GRCm39)	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67,239,672 (GRCm39)	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67,223,390 (GRCm39)	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67,255,286 (GRCm39)	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67,258,537 (GRCm39)	missense
R7474:Myh13	UTSW	11	67,217,990 (GRCm39)	missense	possibly damaging	0.93
R7766:Myh13	UTSW	11	67,249,155 (GRCm39)	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67,241,167 (GRCm39)	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67,218,056 (GRCm39)	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67,231,206 (GRCm39)	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67,225,613 (GRCm39)	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67,241,113 (GRCm39)	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67,254,011 (GRCm39)	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67,255,351 (GRCm39)	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67,233,311 (GRCm39)	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67,242,960 (GRCm39)	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67,252,161 (GRCm39)	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67,252,161 (GRCm39)	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67,255,432 (GRCm39)	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67,242,885 (GRCm39)	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67,252,149 (GRCm39)	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67,253,318 (GRCm39)	missense	probably benign
R9182:Myh13	UTSW	11	67,228,579 (GRCm39)	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67,254,109 (GRCm39)	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67,242,894 (GRCm39)	missense	probably benign
R9446:Myh13	UTSW	11	67,255,325 (GRCm39)	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67,255,712 (GRCm39)	missense
R9690:Myh13	UTSW	11	67,249,194 (GRCm39)	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67,251,294 (GRCm39)	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67,249,016 (GRCm39)	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67,220,121 (GRCm39)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,255,417 (GRCm39)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,241,278 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ATCTTCACTGGGAAGAGGTCCATGT -3'
(R):5'- TGGAGGACTGCTCTCATACCATTGT -3'

Sequencing Primer
(F):5'- ATTGTAATCCCCAGGCCAAG -3'
(R):5'- GCAAAGTCGGTCTATAGTCAGTC -3'

Posted On

2013-07-11