Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02663:Myh13'

302634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, MyHC-eo, extraocular myosin

Accession Numbers

Essential gene?

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

Stock #

IGL02663

Quality Score

Status

Chromosome

Chromosomal Location

67217929-67262413 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 67245753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1095 (Q1095*)

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: Q1095*

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: Q1095*

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: Q1095*

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: Q1095*

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 null
Transcript: ENSMUST00000180845
AA Change: Q1095*

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: Q1095*

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

0.9756

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	C	3: 97,112,648 (GRCm39)	F1269C	probably damaging	Het
Cdc20b	T	A	13: 113,192,665 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,404,660 (GRCm39)		probably benign	Het
Creb5	A	G	6: 53,657,946 (GRCm39)	H236R	probably damaging	Het
Cyp17a1	A	G	19: 46,661,005 (GRCm39)	F93S	probably damaging	Het
Cyp4a32	T	A	4: 115,467,787 (GRCm39)	L257H	probably damaging	Het
Dnai3	A	T	3: 145,760,312 (GRCm39)	M692K	possibly damaging	Het
Fahd1	C	T	17: 25,068,478 (GRCm39)	G200R	probably damaging	Het
Ifit1	A	G	19: 34,618,380 (GRCm39)		probably benign	Het
Mfhas1	G	T	8: 36,057,060 (GRCm39)	V512L	probably damaging	Het
Nfia	A	G	4: 97,929,856 (GRCm39)	T339A	probably benign	Het
Npas3	T	C	12: 54,115,691 (GRCm39)	L840P	probably damaging	Het
Nsf	T	C	11: 103,821,641 (GRCm39)	T2A	probably benign	Het
Or11g7	A	G	14: 50,691,309 (GRCm39)	T267A	probably benign	Het
Or14j10	A	T	17: 37,934,935 (GRCm39)	I197K	probably benign	Het
Or5b111	A	G	19: 13,290,743 (GRCm39)	V302A	probably benign	Het
P2rx2	C	T	5: 110,488,115 (GRCm39)	E480K	possibly damaging	Het
P2rx2	G	T	5: 110,488,052 (GRCm39)		probably null	Het
Ppp1r8	G	A	4: 132,560,419 (GRCm39)	T94I	probably damaging	Het
S100a11	A	T	3: 93,431,464 (GRCm39)	E33D	probably damaging	Het
Sec31b	C	A	19: 44,522,717 (GRCm39)	A92S	probably damaging	Het
Serpina3g	C	T	12: 104,205,399 (GRCm39)	T46I	possibly damaging	Het
Sgo2b	A	T	8: 64,396,148 (GRCm39)	I36N	probably damaging	Het
Slc35e1	A	G	8: 73,242,053 (GRCm39)	L223P	probably damaging	Het
St14	T	C	9: 31,011,678 (GRCm39)		probably null	Het
Sult2a8	A	G	7: 14,159,368 (GRCm39)	Y84H	possibly damaging	Het
Tas1r2	T	C	4: 139,387,593 (GRCm39)	Y322H	probably benign	Het
Tmem59	T	C	4: 107,054,738 (GRCm39)	L181P	probably damaging	Het
Trp73	A	G	4: 154,146,963 (GRCm39)		probably null	Het
Ube2h	A	G	6: 30,241,412 (GRCm39)	V86A	probably damaging	Het
Vmn2r22	A	T	6: 123,626,117 (GRCm39)	H106Q	probably benign	Het
Xirp2	T	C	2: 67,339,802 (GRCm39)	V681A	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
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
R0584:Myh13	UTSW	11	67,251,200 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16