Mutagenetix > Incidental Mutation

Incidental Mutation 'R9237:Myom1'

700561

Institutional Source

Beutler Lab

Gene Symbol

Myom1

Ensembl Gene

ENSMUSG00000024049

Gene Name

myomesin 1

Synonyms

skelemin, D430047A17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9237 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71101056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1195 (T1195I)

Ref Sequence

ENSEMBL: ENSMUSP00000072945 (fasta)

Gene Model

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

AlphaFold

Q62234

PDB Structure

Skelemin Immunoglobulin C2 like domain 4 [SOLUTION NMR]
Skelemin Association with alfa2b,betta3 Integrin: A Structural Model [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024847
AA Change: T1097I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: T1097I

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: T1195I

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

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: T1195I

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: T1097I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: T1097I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	C	17: 28,904,548 (GRCm38)	E392G	probably benign	Het
A430089I19Rik	G	T	5: 94,303,142 (GRCm38)	P375H	probably damaging	Het
Abca12	A	T	1: 71,279,398 (GRCm38)	N1815K	probably damaging	Het
Acat1	C	A	9: 53,583,516 (GRCm38)	A359S	probably damaging	Het
Actn1	T	C	12: 80,193,696 (GRCm38)	N206D	possibly damaging	Het
Adgrf4	T	A	17: 42,669,891 (GRCm38)	H101L	probably benign	Het
Ager	T	A	17: 34,597,895 (GRCm38)	M1K	probably null	Het
Akap12	T	C	10: 4,357,231 (GRCm38)	I1452T	probably benign	Het
Arap3	G	A	18: 37,979,881 (GRCm38)	A1092V	possibly damaging	Het
C8b	A	G	4: 104,793,284 (GRCm38)	T430A	probably benign	Het
Dars2	G	A	1: 161,045,455 (GRCm38)	R455W	probably damaging	Het
Erbb4	T	G	1: 68,042,442 (GRCm38)	Q1144H	possibly damaging	Het
Exoc2	G	A	13: 30,864,875 (GRCm38)	H732Y	probably benign	Het
Fhad1	T	A	4: 141,905,172 (GRCm38)	M1219L	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm38)	G125D	probably benign	Het
Gna15	T	C	10: 81,523,849 (GRCm38)	K36E	possibly damaging	Het
Gpr156	C	T	16: 38,005,286 (GRCm38)	Q622*	probably null	Het
Grip1	C	T	10: 120,075,405 (GRCm38)	S1091L	probably benign	Het
Helt	A	G	8: 46,292,499 (GRCm38)	F154L	probably benign	Het
Hist1h4k	A	G	13: 21,750,364 (GRCm38)	S48P	probably damaging	Het
Ide	T	C	19: 37,330,499 (GRCm38)	N38S		Het
Ighg2b	A	T	12: 113,306,597 (GRCm38)	V267E		Het
Map3k10	C	T	7: 27,658,417 (GRCm38)	W645*	probably null	Het
Mcrip1	G	A	11: 120,544,716 (GRCm38)	P31L	probably damaging	Het
Mttp	T	C	3: 138,104,683 (GRCm38)	E657G	probably benign	Het
Myom2	T	C	8: 15,102,591 (GRCm38)	V646A	possibly damaging	Het
Nlrc3	A	T	16: 3,965,209 (GRCm38)	M128K	probably benign	Het
Nr2f6	A	C	8: 71,378,429 (GRCm38)	C112W	probably damaging	Het
Olfr1026	T	A	2: 85,923,923 (GRCm38)	Y218*	probably null	Het
Olfr312	A	T	11: 58,831,231 (GRCm38)	I26F	possibly damaging	Het
P2rx3	T	C	2: 85,023,552 (GRCm38)	N139S	probably benign	Het
Pcdha11	T	A	18: 37,012,207 (GRCm38)	N450K	probably damaging	Het
Phb	T	C	11: 95,675,208 (GRCm38)	I106T	possibly damaging	Het
Phyhipl	C	A	10: 70,570,890 (GRCm38)	R78L	possibly damaging	Het
Pmfbp1	A	G	8: 109,520,300 (GRCm38)	D268G	probably damaging	Het
Rcbtb2	C	A	14: 73,174,496 (GRCm38)	H408Q	probably damaging	Het
Sptbn1	A	T	11: 30,146,803 (GRCm38)	V271E	probably damaging	Het
Sptlc3	T	A	2: 139,566,685 (GRCm38)	V240E	probably benign	Het
Stat4	A	G	1: 52,106,914 (GRCm38)	N742S	probably benign	Het
Tas2r118	T	A	6: 23,969,618 (GRCm38)	Y148F	probably benign	Het
Trmt5	G	T	12: 73,284,794 (GRCm38)	Q163K	probably benign	Het
Ube2d1	T	A	10: 71,262,095 (GRCm38)	I37F	probably damaging	Het
Vmn1r43	G	A	6: 89,869,895 (GRCm38)	T203M	probably damaging	Het
Vps13b	C	T	15: 35,841,333 (GRCm38)	P2503L	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTAGTGATCTTTAGCTCAGTGG -3'
(R):5'- TGAGGGCAAGCAGACGTTTC -3'

Sequencing Primer
(F):5'- TGTGACAAGTGACATTAGGGATAGTC -3'
(R):5'- AGGGCAAGCAGACGTTTCATTTC -3'

Posted On

2022-02-07