Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00422:Myom1'

3432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myom1

Ensembl Gene

ENSMUSG00000024049

Gene Name

myomesin 1

Synonyms

skelemin, D430047A17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

71326455-71433851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71433093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1480 (V1480E)

Ref Sequence

ENSEMBL: ENSMUSP00000136266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024847] [ENSMUST00000073211] [ENSMUST00000179759]

AlphaFold

Q62234

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024847
AA Change: V1480E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: V1480E

Domain	Start	End	E-Value	Type
low complexity region	62	94	N/A	INTRINSIC
low complexity region	188	210	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
IG	264	351	1.16e-8	SMART
IG	397	480	5.84e-5	SMART
FN3	490	573	4.48e-13	SMART
FN3	618	701	1.61e-14	SMART
FN3	719	800	1.43e-11	SMART
FN3	818	904	4.99e-11	SMART
FN3	923	1008	2.04e-16	SMART
IG	1025	1110	3.1e0	SMART
IG_like	1133	1219	1.34e1	SMART
IG_like	1253	1319	4.79e0	SMART
IG_like	1356	1433	1.54e2	SMART
IGc2	1469	1537	2.05e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000073211
AA Change: V1578E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: V1578E

Domain	Start	End	E-Value	Type
low complexity region	62	94	N/A	INTRINSIC
low complexity region	188	210	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
IG	264	351	1.16e-8	SMART
IG	397	480	5.84e-5	SMART
FN3	490	573	4.48e-13	SMART
FN3	618	701	1.61e-14	SMART
FN3	719	800	1.43e-11	SMART
low complexity region	857	870	N/A	INTRINSIC
FN3	916	1002	4.99e-11	SMART
FN3	1021	1106	2.04e-16	SMART
IG	1123	1208	3.1e0	SMART
IG_like	1231	1317	1.34e1	SMART
IG_like	1351	1417	4.79e0	SMART
IG_like	1454	1531	1.54e2	SMART
IGc2	1567	1635	2.05e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179759
AA Change: V1480E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: V1480E

Domain	Start	End	E-Value	Type
low complexity region	62	94	N/A	INTRINSIC
low complexity region	188	210	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
IG	264	351	1.16e-8	SMART
IG	397	480	5.84e-5	SMART
FN3	490	573	4.48e-13	SMART
FN3	618	701	1.61e-14	SMART
FN3	719	800	1.43e-11	SMART
FN3	818	904	4.99e-11	SMART
FN3	923	1008	2.04e-16	SMART
IG	1025	1110	3.1e0	SMART
IG_like	1133	1219	1.34e1	SMART
IG_like	1253	1319	4.79e0	SMART
IG_like	1356	1433	1.54e2	SMART
IGc2	1469	1537	2.05e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Adam34l	A	G	8: 44,079,388 (GRCm39)	F279L	probably damaging	Het
Ajuba	A	T	14: 54,809,226 (GRCm39)	Y400*	probably null	Het
Cckar	T	A	5: 53,857,171 (GRCm39)	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,803,260 (GRCm39)	V253A	probably benign	Het
Cep162	T	C	9: 87,109,220 (GRCm39)	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106 (GRCm39)	E2399K	probably damaging	Het
Cln8	G	A	8: 14,946,637 (GRCm39)	C217Y	probably benign	Het
Dchs1	A	G	7: 105,407,236 (GRCm39)	V2119A	possibly damaging	Het
Dhx33	T	C	11: 70,892,446 (GRCm39)	S108G	probably benign	Het
Dip2a	T	A	10: 76,149,070 (GRCm39)	M194L	probably benign	Het
Dnah11	T	C	12: 118,031,831 (GRCm39)	K1779R	probably damaging	Het
Fads3	T	G	19: 10,033,045 (GRCm39)	F328V	possibly damaging	Het
Flad1	A	G	3: 89,313,160 (GRCm39)		probably null	Het
Gm7535	G	T	17: 18,132,150 (GRCm39)		probably benign	Het
Gnpat	A	G	8: 125,611,752 (GRCm39)	E513G	probably damaging	Het
H2-M5	A	G	17: 37,298,732 (GRCm39)	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,505,771 (GRCm39)	R114Q	probably damaging	Het
Ide	T	C	19: 37,253,931 (GRCm39)	I903V	unknown	Het
Ifi209	T	G	1: 173,466,529 (GRCm39)	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,367,894 (GRCm39)	D248G	probably damaging	Het
Mat2b	C	A	11: 40,578,565 (GRCm39)	G41C	probably damaging	Het
Mfsd4a	T	C	1: 131,968,332 (GRCm39)	I369V	probably benign	Het
Myom2	A	T	8: 15,119,490 (GRCm39)	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,496,635 (GRCm39)	V422E	probably damaging	Het
Pkn3	G	A	2: 29,971,116 (GRCm39)	A228T	probably damaging	Het
Rad17	A	T	13: 100,766,033 (GRCm39)	I365K	probably benign	Het
Rad17	A	T	13: 100,766,031 (GRCm39)	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,106,743 (GRCm39)	C15G	probably benign	Het
Spag9	T	A	11: 93,988,692 (GRCm39)	F571I	probably benign	Het
Ttc27	T	A	17: 75,087,811 (GRCm39)	C459S	probably damaging	Het
Washc2	A	G	6: 116,233,637 (GRCm39)	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318 (GRCm39)	H490L	possibly damaging	Het

Other mutations in Myom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Myom1	APN	17	71,391,424 (GRCm39)	missense	probably damaging	1.00
IGL00904:Myom1	APN	17	71,406,944 (GRCm39)	splice site	probably benign
IGL00928:Myom1	APN	17	71,396,908 (GRCm39)	missense	probably damaging	1.00
IGL01025:Myom1	APN	17	71,384,912 (GRCm39)	missense	probably damaging	1.00
IGL01548:Myom1	APN	17	71,408,215 (GRCm39)	splice site	probably benign
IGL01588:Myom1	APN	17	71,424,432 (GRCm39)	missense	possibly damaging	0.94
IGL01614:Myom1	APN	17	71,433,173 (GRCm39)	missense	possibly damaging	0.46
IGL01618:Myom1	APN	17	71,406,988 (GRCm39)	missense	possibly damaging	0.87
IGL01619:Myom1	APN	17	71,351,471 (GRCm39)	splice site	probably benign
IGL01766:Myom1	APN	17	71,384,283 (GRCm39)	missense	probably damaging	1.00
IGL02105:Myom1	APN	17	71,354,711 (GRCm39)	splice site	probably benign
IGL02122:Myom1	APN	17	71,399,132 (GRCm39)	missense	probably damaging	1.00
IGL02184:Myom1	APN	17	71,379,132 (GRCm39)	missense	possibly damaging	0.93
IGL02260:Myom1	APN	17	71,415,310 (GRCm39)	nonsense	probably null
IGL02486:Myom1	APN	17	71,406,939 (GRCm39)	splice site	probably benign
IGL02501:Myom1	APN	17	71,379,076 (GRCm39)	critical splice acceptor site	probably null
IGL02642:Myom1	APN	17	71,408,093 (GRCm39)	missense	possibly damaging	0.90
IGL02677:Myom1	APN	17	71,391,344 (GRCm39)	missense	probably damaging	1.00
IGL02719:Myom1	APN	17	71,413,349 (GRCm39)	splice site	probably benign
IGL02945:Myom1	APN	17	71,399,088 (GRCm39)	splice site	probably benign
IGL03086:Myom1	APN	17	71,415,666 (GRCm39)	missense	probably damaging	1.00
IGL03218:Myom1	APN	17	71,391,311 (GRCm39)	missense	possibly damaging	0.46
R0107:Myom1	UTSW	17	71,384,360 (GRCm39)	missense	probably damaging	1.00
R0130:Myom1	UTSW	17	71,352,750 (GRCm39)	missense	probably damaging	0.98
R0133:Myom1	UTSW	17	71,354,782 (GRCm39)	missense	probably damaging	1.00
R0206:Myom1	UTSW	17	71,344,292 (GRCm39)	missense	probably damaging	1.00
R0206:Myom1	UTSW	17	71,344,292 (GRCm39)	missense	probably damaging	1.00
R0352:Myom1	UTSW	17	71,352,744 (GRCm39)	missense	possibly damaging	0.72
R0396:Myom1	UTSW	17	71,341,688 (GRCm39)	missense	probably damaging	1.00
R0496:Myom1	UTSW	17	71,391,301 (GRCm39)	missense	probably damaging	1.00
R0506:Myom1	UTSW	17	71,399,215 (GRCm39)	splice site	probably benign
R0511:Myom1	UTSW	17	71,391,312 (GRCm39)	missense	probably benign	0.22
R0600:Myom1	UTSW	17	71,427,643 (GRCm39)	missense	possibly damaging	0.48
R0699:Myom1	UTSW	17	71,374,308 (GRCm39)	missense	probably damaging	0.98
R0791:Myom1	UTSW	17	71,428,131 (GRCm39)	missense	probably damaging	1.00
R0792:Myom1	UTSW	17	71,428,131 (GRCm39)	missense	probably damaging	1.00
R0963:Myom1	UTSW	17	71,384,762 (GRCm39)	missense	possibly damaging	0.74
R1324:Myom1	UTSW	17	71,359,714 (GRCm39)	missense	probably damaging	0.98
R2102:Myom1	UTSW	17	71,408,024 (GRCm39)	missense	probably damaging	1.00
R2158:Myom1	UTSW	17	71,371,592 (GRCm39)	missense	possibly damaging	0.83
R2336:Myom1	UTSW	17	71,330,189 (GRCm39)	missense	possibly damaging	0.53
R2351:Myom1	UTSW	17	71,341,574 (GRCm39)	missense	probably damaging	0.98
R2442:Myom1	UTSW	17	71,417,730 (GRCm39)	missense	probably damaging	1.00
R2483:Myom1	UTSW	17	71,384,807 (GRCm39)	missense	probably damaging	1.00
R2892:Myom1	UTSW	17	71,341,648 (GRCm39)	missense	probably damaging	1.00
R2897:Myom1	UTSW	17	71,408,215 (GRCm39)	splice site	probably benign
R3440:Myom1	UTSW	17	71,352,658 (GRCm39)	splice site	probably null
R3842:Myom1	UTSW	17	71,352,619 (GRCm39)	missense	probably damaging	1.00
R4249:Myom1	UTSW	17	71,399,135 (GRCm39)	missense	probably damaging	1.00
R4329:Myom1	UTSW	17	71,343,348 (GRCm39)	missense	probably damaging	1.00
R4594:Myom1	UTSW	17	71,407,069 (GRCm39)	missense	possibly damaging	0.73
R4873:Myom1	UTSW	17	71,379,114 (GRCm39)	missense	probably damaging	1.00
R4875:Myom1	UTSW	17	71,379,114 (GRCm39)	missense	probably damaging	1.00
R4876:Myom1	UTSW	17	71,384,405 (GRCm39)	missense	probably damaging	1.00
R5171:Myom1	UTSW	17	71,406,967 (GRCm39)	missense	possibly damaging	0.94
R5540:Myom1	UTSW	17	71,416,782 (GRCm39)	missense	probably damaging	1.00
R5882:Myom1	UTSW	17	71,417,717 (GRCm39)	missense	probably damaging	1.00
R5978:Myom1	UTSW	17	71,424,438 (GRCm39)	missense	probably damaging	1.00
R6039:Myom1	UTSW	17	71,417,746 (GRCm39)	missense	probably damaging	1.00
R6039:Myom1	UTSW	17	71,417,746 (GRCm39)	missense	probably damaging	1.00
R6155:Myom1	UTSW	17	71,415,690 (GRCm39)	critical splice donor site	probably null
R6261:Myom1	UTSW	17	71,433,132 (GRCm39)	missense	probably damaging	1.00
R6284:Myom1	UTSW	17	71,329,887 (GRCm39)	nonsense	probably null
R6313:Myom1	UTSW	17	71,389,483 (GRCm39)	missense	probably benign
R6369:Myom1	UTSW	17	71,408,071 (GRCm39)	missense	probably damaging	1.00
R6545:Myom1	UTSW	17	71,389,300 (GRCm39)	missense	probably benign	0.00
R6738:Myom1	UTSW	17	71,407,393 (GRCm39)	splice site	probably null
R6933:Myom1	UTSW	17	71,359,666 (GRCm39)	missense	probably damaging	1.00
R7168:Myom1	UTSW	17	71,396,942 (GRCm39)	missense	probably benign	0.00
R7286:Myom1	UTSW	17	71,352,544 (GRCm39)	missense	possibly damaging	0.90
R7315:Myom1	UTSW	17	71,387,892 (GRCm39)	critical splice donor site	probably null
R7672:Myom1	UTSW	17	71,391,235 (GRCm39)	missense	possibly damaging	0.92
R7789:Myom1	UTSW	17	71,424,431 (GRCm39)	missense	probably benign	0.03
R7898:Myom1	UTSW	17	71,352,747 (GRCm39)	missense	probably benign	0.25
R8008:Myom1	UTSW	17	71,407,057 (GRCm39)	missense	probably benign	0.30
R8152:Myom1	UTSW	17	71,391,290 (GRCm39)	missense	probably damaging	0.96
R8554:Myom1	UTSW	17	71,343,448 (GRCm39)	missense	possibly damaging	0.94
R8874:Myom1	UTSW	17	71,413,199 (GRCm39)	missense	probably damaging	1.00
R8981:Myom1	UTSW	17	71,391,316 (GRCm39)	missense	probably benign	0.09
R9012:Myom1	UTSW	17	71,407,103 (GRCm39)	missense	probably benign	0.06
R9090:Myom1	UTSW	17	71,374,325 (GRCm39)	missense	probably damaging	1.00
R9193:Myom1	UTSW	17	71,343,295 (GRCm39)	missense	probably damaging	1.00
R9237:Myom1	UTSW	17	71,408,051 (GRCm39)	missense	probably damaging	1.00
R9271:Myom1	UTSW	17	71,374,325 (GRCm39)	missense	probably damaging	1.00
R9355:Myom1	UTSW	17	71,384,888 (GRCm39)	missense	probably damaging	1.00
R9362:Myom1	UTSW	17	71,343,288 (GRCm39)	missense	probably benign	0.00
R9440:Myom1	UTSW	17	71,433,329 (GRCm39)	missense	probably benign	0.00
R9469:Myom1	UTSW	17	71,368,122 (GRCm39)	missense	possibly damaging	0.79
R9568:Myom1	UTSW	17	71,394,476 (GRCm39)	missense	probably damaging	1.00
R9612:Myom1	UTSW	17	71,412,475 (GRCm39)	nonsense	probably null
R9645:Myom1	UTSW	17	71,399,204 (GRCm39)	missense	probably benign	0.01
X0019:Myom1	UTSW	17	71,407,066 (GRCm39)	missense	possibly damaging	0.55

Posted On

2012-04-20