Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02945:Myom1'

364723

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 #

IGL02945

Quality Score

Status

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 71092093 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	A	T	10: 51,756,999		noncoding transcript	Het
Adgrf4	T	C	17: 42,667,366	Q362R	probably benign	Het
Akap6	A	G	12: 52,880,837	N177D	probably damaging	Het
Alms1	A	G	6: 85,620,933	I914V	probably damaging	Het
Arhgap11a	A	T	2: 113,837,473	S394R	possibly damaging	Het
Cacna1h	C	T	17: 25,388,059	V962I	probably damaging	Het
Calr3	A	T	8: 72,438,557	L91Q	probably damaging	Het
Ccnf	T	C	17: 24,224,916	E626G	probably damaging	Het
Clec10a	A	T	11: 70,170,542	I295F	possibly damaging	Het
Cop1	A	T	1: 159,306,689	N167I	probably benign	Het
Csmd1	G	T	8: 16,271,570	Q505K	possibly damaging	Het
Ctrc	A	C	4: 141,846,252	V6G	possibly damaging	Het
Cyp2c69	T	C	19: 39,886,647	R21G	possibly damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Egfr	T	A	11: 16,752,514	L11Q	probably damaging	Het
Erich2	A	G	2: 70,534,394	T371A	probably damaging	Het
Fbxl21	T	A	13: 56,527,170	F111L	probably damaging	Het
Grik4	G	T	9: 42,597,879	T416N	possibly damaging	Het
Grin3a	A	G	4: 49,792,971	V254A	possibly damaging	Het
Hat1	G	A	2: 71,420,693	R195K	probably benign	Het
Hmgb4	A	C	4: 128,260,594	Y60*	probably null	Het
Ighv12-3	A	G	12: 114,366,717	W53R	probably damaging	Het
Irs2	C	A	8: 11,007,781	C217F	probably damaging	Het
Kcnb1	T	C	2: 167,188,388	E79G	probably benign	Het
Lingo3	A	G	10: 80,834,698	I466T	probably damaging	Het
Lyst	T	C	13: 13,761,198	S3665P	possibly damaging	Het
Myh9	A	T	15: 77,762,005	L1926Q	probably benign	Het
Nbeal1	T	C	1: 60,206,410	F198L	probably damaging	Het
Nktr	A	G	9: 121,728,631	T63A	probably damaging	Het
Nle1	A	T	11: 82,904,084		probably benign	Het
Nr3c2	A	T	8: 76,909,659	D463V	probably damaging	Het
Olfr181	A	T	16: 58,926,340	I77N	probably damaging	Het
Olfr902	A	G	9: 38,449,516	I215V	probably benign	Het
Pcdhb18	T	C	18: 37,489,995	I126T	probably benign	Het
Pgm2	A	G	4: 99,961,534	I127V	probably benign	Het
Rai14	A	G	15: 10,574,709	I721T	probably benign	Het
Rps6ka1	A	G	4: 133,867,199	Y57H	probably damaging	Het
Scara3	T	A	14: 65,931,211	D319V	probably damaging	Het
Selp	G	A	1: 164,133,929	G404S	probably damaging	Het
Serinc3	A	G	2: 163,630,916		probably benign	Het
Slc4a8	A	G	15: 100,807,199		probably null	Het
Spen	G	T	4: 141,494,313	L325I	unknown	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Thumpd1	A	T	7: 119,716,747	S326R	possibly damaging	Het
Tmem255b	T	C	8: 13,455,141	S149P	probably damaging	Het
Tnni3k	A	T	3: 155,037,438	S95T	possibly damaging	Het
Trim66	G	A	7: 109,460,176	Q954*	probably null	Het
Ttn	A	T	2: 76,751,972	I22859N	probably damaging	Het
Zfp319	A	T	8: 95,323,818		probably benign	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
IGL02105:Myom1	APN	17	71,047,716 (GRCm38)	splice site	probably benign
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
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

2015-12-18