Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02122:Myom1'

280678

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 #

IGL02122

Quality Score

Status

Chromosome

Chromosomal Location

71326455-71433851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71399132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 998 (R998L)

Ref Sequence

ENSEMBL: ENSMUSP00000136266 (fasta)

Gene Model

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

AlphaFold

Q62234

Predicted Effect

probably damaging
Transcript: ENSMUST00000024847
AA Change: R998L

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

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: R998L

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: R1096L

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

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: R1096L

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: R998L

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

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: R998L

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,217,299 (GRCm39)	T756I	possibly damaging	Het
Abi3bp	T	C	16: 56,507,491 (GRCm39)		probably benign	Het
Adcy5	G	A	16: 35,103,982 (GRCm39)		probably benign	Het
Adcy6	T	A	15: 98,496,763 (GRCm39)	H504L	possibly damaging	Het
Ank2	A	G	3: 126,731,523 (GRCm39)		probably benign	Het
Atxn2	A	G	5: 121,916,093 (GRCm39)	D34G	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil1	T	C	13: 24,220,541 (GRCm39)	E657G	possibly damaging	Het
Cdc25c	T	C	18: 34,877,038 (GRCm39)	I212V	probably benign	Het
Chl1	A	G	6: 103,652,098 (GRCm39)	D338G	probably benign	Het
Cog6	T	C	3: 52,905,763 (GRCm39)	I361V	probably benign	Het
Dip2c	T	C	13: 9,556,695 (GRCm39)	S80P	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,008 (GRCm39)	R34S	possibly damaging	Het
Exph5	A	G	9: 53,284,974 (GRCm39)	N685S	probably benign	Het
Flnc	A	T	6: 29,444,335 (GRCm39)	I684L	possibly damaging	Het
Foxk1	T	A	5: 142,437,184 (GRCm39)		probably benign	Het
Gprc6a	T	C	10: 51,502,819 (GRCm39)	N348S	probably benign	Het
Gspt1	T	C	16: 11,047,080 (GRCm39)	K445R	probably damaging	Het
Hace1	T	C	10: 45,494,700 (GRCm39)	V170A	probably damaging	Het
Hydin	T	C	8: 111,221,047 (GRCm39)	I1481T	possibly damaging	Het
Ighv4-1	A	T	12: 113,912,145 (GRCm39)	L36Q	possibly damaging	Het
Ints1	G	A	5: 139,750,905 (GRCm39)	Q833*	probably null	Het
Myo15a	T	C	11: 60,374,292 (GRCm39)	F96L	probably benign	Het
Nacc2	A	G	2: 25,979,960 (GRCm39)	S159P	probably benign	Het
Or5k15	T	C	16: 58,710,134 (GRCm39)	T150A	probably benign	Het
Or5w10	A	G	2: 87,375,447 (GRCm39)	V147A	probably benign	Het
Or7e177	T	A	9: 20,211,880 (GRCm39)	L128Q	probably damaging	Het
Pbrm1	A	G	14: 30,811,573 (GRCm39)	I1197V	probably damaging	Het
Pde4dip	G	A	3: 97,674,737 (GRCm39)	R60C	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pitpnm1	T	C	19: 4,157,796 (GRCm39)	Y499H	probably damaging	Het
Plekhn1	C	T	4: 156,308,313 (GRCm39)		probably null	Het
Prmt8	A	G	6: 127,667,680 (GRCm39)	Y332H	probably benign	Het
Prpf38a	A	G	4: 108,436,238 (GRCm39)	I25T	possibly damaging	Het
Rpf1	T	C	3: 146,227,022 (GRCm39)	K44E	probably benign	Het
Rusc2	T	C	4: 43,421,685 (GRCm39)	F702L	possibly damaging	Het
Ryr2	A	T	13: 11,756,755 (GRCm39)	I1633K	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Tkt	T	C	14: 30,293,158 (GRCm39)	V510A	possibly damaging	Het
Tmem106a	C	A	11: 101,481,240 (GRCm39)	N249K	probably damaging	Het
Tmpo	A	T	10: 90,999,998 (GRCm39)	S157T	possibly damaging	Het
Tspan32	A	T	7: 142,569,372 (GRCm39)	I144F	probably damaging	Het
Ufsp2	G	A	8: 46,448,685 (GRCm39)	V429I	probably benign	Het
Unc13c	T	A	9: 73,641,679 (GRCm39)		probably benign	Het
Usp47	A	T	7: 111,706,115 (GRCm39)	K1259M	probably damaging	Het
Zdhhc18	A	T	4: 133,340,946 (GRCm39)		probably benign	Het
Zfp507	G	T	7: 35,475,520 (GRCm39)	L898I	probably damaging	Het

Other mutations in Myom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom1	APN	17	71,433,093 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16