Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02105:Myom1'

279962

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 #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 71047716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136266 (fasta)

Gene Model

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

AlphaFold

Q62234

Predicted Effect

probably benign
Transcript: ENSMUST00000024847

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049

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 benign
Transcript: ENSMUST00000073211

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049

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 benign
Transcript: ENSMUST00000179759

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,680,064 (GRCm38)	P734H	probably damaging	Het
Arfip2	A	T	7: 105,639,383 (GRCm38)	I14N	probably damaging	Het
Asap3	G	T	4: 136,228,474 (GRCm38)		probably null	Het
Atg2a	T	A	19: 6,250,403 (GRCm38)		probably benign	Het
Bbs12	T	C	3: 37,320,147 (GRCm38)	L248P	probably damaging	Het
Brd3	A	T	2: 27,459,776 (GRCm38)	I255N	probably damaging	Het
Ccdc141	A	G	2: 77,049,577 (GRCm38)		probably null	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Chd9	T	A	8: 90,932,488 (GRCm38)	D25E	probably damaging	Het
Cobl	T	C	11: 12,249,651 (GRCm38)	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,907,882 (GRCm38)	E1486V	unknown	Het
Dock2	T	C	11: 34,714,525 (GRCm38)	N256D	probably damaging	Het
Dpp3	G	A	19: 4,916,771 (GRCm38)	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892 (GRCm38)	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,480,551 (GRCm38)	D35G	probably benign	Het
Fntb	A	G	12: 76,862,489 (GRCm38)	K84E	probably benign	Het
Gfi1	A	G	5: 107,723,722 (GRCm38)		probably null	Het
Glb1l3	T	A	9: 26,818,527 (GRCm38)	I516F	probably damaging	Het
Hltf	A	G	3: 20,092,757 (GRCm38)	N560S	probably damaging	Het
Kif21b	A	G	1: 136,171,303 (GRCm38)	N1443S	probably benign	Het
Knl1	T	A	2: 119,071,808 (GRCm38)	I1330K	probably benign	Het
Krt20	C	T	11: 99,438,001 (GRCm38)	V33M	probably benign	Het
Lao1	A	G	4: 118,968,443 (GRCm38)	T487A	probably damaging	Het
Larp4	A	G	15: 99,986,071 (GRCm38)	E63G	probably damaging	Het
Lrp1	A	G	10: 127,544,579 (GRCm38)	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,570,257 (GRCm38)	I272M	probably benign	Het
Malrd1	A	T	2: 16,127,863 (GRCm38)	Q1865L	unknown	Het
Mtg1	T	C	7: 140,150,206 (GRCm38)	L305P	probably damaging	Het
Mylk4	T	A	13: 32,720,562 (GRCm38)	E427D	probably benign	Het
Nbeal1	A	G	1: 60,253,501 (GRCm38)	E1104G	probably damaging	Het
Obox5	A	G	7: 15,758,575 (GRCm38)	M152V	probably benign	Het
Olfm2	C	T	9: 20,672,180 (GRCm38)	V203M	probably damaging	Het
Or2l13	T	G	16: 19,487,261 (GRCm38)	L141R	probably benign	Het
Or8b12c	A	T	9: 37,804,595 (GRCm38)	H228L	possibly damaging	Het
Pf4	A	G	5: 90,773,255 (GRCm38)	S105G	probably damaging	Het
Phlpp2	T	A	8: 109,904,408 (GRCm38)	I228N	probably damaging	Het
Sall1	T	G	8: 89,032,568 (GRCm38)	S303R	probably damaging	Het
Setd5	A	G	6: 113,117,580 (GRCm38)	E486G	probably damaging	Het
Slc9a5	C	T	8: 105,349,443 (GRCm38)	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,149,826 (GRCm38)	I390N	probably damaging	Het
Trp53	T	C	11: 69,588,503 (GRCm38)	V169A	probably damaging	Het
Usp4	A	G	9: 108,384,932 (GRCm38)	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,930,490 (GRCm38)	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,197,349 (GRCm38)		probably benign	Het
Xirp1	C	T	9: 120,016,997 (GRCm38)	G940E	probably damaging	Het
Zfp407	A	T	18: 84,562,720 (GRCm38)	C89*	probably null	Het

Other mutations in Myom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom1	APN	17	71,126,098 (GRCm38)	missense	probably damaging	1.00
IGL00845:Myom1	APN	17	71,084,429 (GRCm38)	missense	probably damaging	1.00
IGL00904:Myom1	APN	17	71,099,949 (GRCm38)	splice site	probably benign
IGL00928:Myom1	APN	17	71,089,913 (GRCm38)	missense	probably damaging	1.00
IGL01025:Myom1	APN	17	71,077,917 (GRCm38)	missense	probably damaging	1.00
IGL01548:Myom1	APN	17	71,101,220 (GRCm38)	splice site	probably benign
IGL01588:Myom1	APN	17	71,117,437 (GRCm38)	missense	possibly damaging	0.94
IGL01614:Myom1	APN	17	71,126,178 (GRCm38)	missense	possibly damaging	0.46
IGL01618:Myom1	APN	17	71,099,993 (GRCm38)	missense	possibly damaging	0.87
IGL01619:Myom1	APN	17	71,044,476 (GRCm38)	splice site	probably benign
IGL01766:Myom1	APN	17	71,077,288 (GRCm38)	missense	probably damaging	1.00
IGL02122:Myom1	APN	17	71,092,137 (GRCm38)	missense	probably damaging	1.00
IGL02184:Myom1	APN	17	71,072,137 (GRCm38)	missense	possibly damaging	0.93
IGL02260:Myom1	APN	17	71,108,315 (GRCm38)	nonsense	probably null
IGL02486:Myom1	APN	17	71,099,944 (GRCm38)	splice site	probably benign
IGL02501:Myom1	APN	17	71,072,081 (GRCm38)	critical splice acceptor site	probably null
IGL02642:Myom1	APN	17	71,101,098 (GRCm38)	missense	possibly damaging	0.90
IGL02677:Myom1	APN	17	71,084,349 (GRCm38)	missense	probably damaging	1.00
IGL02719:Myom1	APN	17	71,106,354 (GRCm38)	splice site	probably benign
IGL02945:Myom1	APN	17	71,092,093 (GRCm38)	splice site	probably benign
IGL03086:Myom1	APN	17	71,108,671 (GRCm38)	missense	probably damaging	1.00
IGL03218:Myom1	APN	17	71,084,316 (GRCm38)	missense	possibly damaging	0.46
R0107:Myom1	UTSW	17	71,077,365 (GRCm38)	missense	probably damaging	1.00
R0130:Myom1	UTSW	17	71,045,755 (GRCm38)	missense	probably damaging	0.98
R0133:Myom1	UTSW	17	71,047,787 (GRCm38)	missense	probably damaging	1.00
R0206:Myom1	UTSW	17	71,037,297 (GRCm38)	missense	probably damaging	1.00
R0206:Myom1	UTSW	17	71,037,297 (GRCm38)	missense	probably damaging	1.00
R0352:Myom1	UTSW	17	71,045,749 (GRCm38)	missense	possibly damaging	0.72
R0396:Myom1	UTSW	17	71,034,693 (GRCm38)	missense	probably damaging	1.00
R0496:Myom1	UTSW	17	71,084,306 (GRCm38)	missense	probably damaging	1.00
R0506:Myom1	UTSW	17	71,092,220 (GRCm38)	splice site	probably benign
R0511:Myom1	UTSW	17	71,084,317 (GRCm38)	missense	probably benign	0.22
R0600:Myom1	UTSW	17	71,120,648 (GRCm38)	missense	possibly damaging	0.48
R0699:Myom1	UTSW	17	71,067,313 (GRCm38)	missense	probably damaging	0.98
R0791:Myom1	UTSW	17	71,121,136 (GRCm38)	missense	probably damaging	1.00
R0792:Myom1	UTSW	17	71,121,136 (GRCm38)	missense	probably damaging	1.00
R0963:Myom1	UTSW	17	71,077,767 (GRCm38)	missense	possibly damaging	0.74
R1324:Myom1	UTSW	17	71,052,719 (GRCm38)	missense	probably damaging	0.98
R2102:Myom1	UTSW	17	71,101,029 (GRCm38)	missense	probably damaging	1.00
R2158:Myom1	UTSW	17	71,064,597 (GRCm38)	missense	possibly damaging	0.83
R2336:Myom1	UTSW	17	71,023,194 (GRCm38)	missense	possibly damaging	0.53
R2351:Myom1	UTSW	17	71,034,579 (GRCm38)	missense	probably damaging	0.98
R2442:Myom1	UTSW	17	71,110,735 (GRCm38)	missense	probably damaging	1.00
R2483:Myom1	UTSW	17	71,077,812 (GRCm38)	missense	probably damaging	1.00
R2892:Myom1	UTSW	17	71,034,653 (GRCm38)	missense	probably damaging	1.00
R2897:Myom1	UTSW	17	71,101,220 (GRCm38)	splice site	probably benign
R3440:Myom1	UTSW	17	71,045,663 (GRCm38)	splice site	probably null
R3842:Myom1	UTSW	17	71,045,624 (GRCm38)	missense	probably damaging	1.00
R4249:Myom1	UTSW	17	71,092,140 (GRCm38)	missense	probably damaging	1.00
R4329:Myom1	UTSW	17	71,036,353 (GRCm38)	missense	probably damaging	1.00
R4594:Myom1	UTSW	17	71,100,074 (GRCm38)	missense	possibly damaging	0.73
R4873:Myom1	UTSW	17	71,072,119 (GRCm38)	missense	probably damaging	1.00
R4875:Myom1	UTSW	17	71,072,119 (GRCm38)	missense	probably damaging	1.00
R4876:Myom1	UTSW	17	71,077,410 (GRCm38)	missense	probably damaging	1.00
R5171:Myom1	UTSW	17	71,099,972 (GRCm38)	missense	possibly damaging	0.94
R5540:Myom1	UTSW	17	71,109,787 (GRCm38)	missense	probably damaging	1.00
R5882:Myom1	UTSW	17	71,110,722 (GRCm38)	missense	probably damaging	1.00
R5978:Myom1	UTSW	17	71,117,443 (GRCm38)	missense	probably damaging	1.00
R6039:Myom1	UTSW	17	71,110,751 (GRCm38)	missense	probably damaging	1.00
R6039:Myom1	UTSW	17	71,110,751 (GRCm38)	missense	probably damaging	1.00
R6155:Myom1	UTSW	17	71,108,695 (GRCm38)	critical splice donor site	probably null
R6261:Myom1	UTSW	17	71,126,137 (GRCm38)	missense	probably damaging	1.00
R6284:Myom1	UTSW	17	71,022,892 (GRCm38)	nonsense	probably null
R6313:Myom1	UTSW	17	71,082,488 (GRCm38)	missense	probably benign
R6369:Myom1	UTSW	17	71,101,076 (GRCm38)	missense	probably damaging	1.00
R6545:Myom1	UTSW	17	71,082,305 (GRCm38)	missense	probably benign	0.00
R6738:Myom1	UTSW	17	71,100,398 (GRCm38)	splice site	probably null
R6933:Myom1	UTSW	17	71,052,671 (GRCm38)	missense	probably damaging	1.00
R7168:Myom1	UTSW	17	71,089,947 (GRCm38)	missense	probably benign	0.00
R7286:Myom1	UTSW	17	71,045,549 (GRCm38)	missense	possibly damaging	0.90
R7315:Myom1	UTSW	17	71,080,897 (GRCm38)	critical splice donor site	probably null
R7672:Myom1	UTSW	17	71,084,240 (GRCm38)	missense	possibly damaging	0.92
R7789:Myom1	UTSW	17	71,117,436 (GRCm38)	missense	probably benign	0.03
R7898:Myom1	UTSW	17	71,045,752 (GRCm38)	missense	probably benign	0.25
R8008:Myom1	UTSW	17	71,100,062 (GRCm38)	missense	probably benign	0.30
R8152:Myom1	UTSW	17	71,084,295 (GRCm38)	missense	probably damaging	0.96
R8554:Myom1	UTSW	17	71,036,453 (GRCm38)	missense	possibly damaging	0.94
R8874:Myom1	UTSW	17	71,106,204 (GRCm38)	missense	probably damaging	1.00
R8981:Myom1	UTSW	17	71,084,321 (GRCm38)	missense	probably benign	0.09
R9012:Myom1	UTSW	17	71,100,108 (GRCm38)	missense	probably benign	0.06
R9090:Myom1	UTSW	17	71,067,330 (GRCm38)	missense	probably damaging	1.00
R9193:Myom1	UTSW	17	71,036,300 (GRCm38)	missense	probably damaging	1.00
R9237:Myom1	UTSW	17	71,101,056 (GRCm38)	missense	probably damaging	1.00
R9271:Myom1	UTSW	17	71,067,330 (GRCm38)	missense	probably damaging	1.00
R9355:Myom1	UTSW	17	71,077,893 (GRCm38)	missense	probably damaging	1.00
R9362:Myom1	UTSW	17	71,036,293 (GRCm38)	missense	probably benign	0.00
R9440:Myom1	UTSW	17	71,126,334 (GRCm38)	missense	probably benign	0.00
R9469:Myom1	UTSW	17	71,061,127 (GRCm38)	missense	possibly damaging	0.79
R9568:Myom1	UTSW	17	71,087,481 (GRCm38)	missense	probably damaging	1.00
R9612:Myom1	UTSW	17	71,105,480 (GRCm38)	nonsense	probably null
R9645:Myom1	UTSW	17	71,092,209 (GRCm38)	missense	probably benign	0.01
X0019:Myom1	UTSW	17	71,100,071 (GRCm38)	missense	possibly damaging	0.55

Posted On

2015-04-16