Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Myom1'

708383

Institutional Source

Beutler Lab

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 #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71077893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 760 (S760P)

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

possibly damaging
Transcript: ENSMUST00000024847
AA Change: S760P

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: S760P

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: S760P

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

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: S760P

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: S760P

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

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: S760P

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI314180	A	T	4: 58,844,114	S551T	probably benign	Het
Ano9	A	G	7: 141,101,904	V747A	probably benign	Het
Arfgef1	G	A	1: 10,199,775	P383L	probably benign	Het
Arhgef4	A	G	1: 34,810,549	E407G	probably benign	Het
Astn1	C	T	1: 158,684,151	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,670,721	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,507,703	R983H	probably benign	Het
Bmp2k	T	A	5: 97,063,507	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474	V107F	probably damaging	Het
Car3	T	A	3: 14,863,604	N11K		Het
Ccdc170	A	G	10: 4,558,695	R640G	probably benign	Het
Cep126	A	G	9: 8,100,037	V832A	possibly damaging	Het
Ces1h	C	T	8: 93,374,521	V49I		Het
Clasp2	T	A	9: 113,835,241	V310D	probably damaging	Het
Comp	C	T	8: 70,376,049	T177M	probably benign	Het
Coro1c	T	C	5: 113,865,665	S98G	probably damaging	Het
Cpa6	C	T	1: 10,409,295	V238I	probably benign	Het
Crebrf	T	C	17: 26,743,120	F397S	probably damaging	Het
Dcpp1	C	A	17: 23,881,013	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,661,091	D533G	possibly damaging	Het
Epha5	T	C	5: 84,106,031	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806	Y476C	probably damaging	Het
Erich5	G	T	15: 34,470,855	V77F	probably damaging	Het
Fat4	A	G	3: 38,981,898	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,585,882	V521E	probably benign	Het
Gm37596	T	C	3: 93,693,000	T21A	possibly damaging	Het
Gm5431	A	G	11: 48,894,448	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,561,815	L95*	probably null	Het
Gphn	A	G	12: 78,492,194	T205A	probably damaging	Het
Grik5	C	A	7: 25,068,172	A28S	possibly damaging	Het
H2-K1	A	G	17: 33,997,146	S300P	probably benign	Het
H2-Oa	T	C	17: 34,094,749	L227P	possibly damaging	Het
Hhip	T	C	8: 80,051,604	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,438,290	M4328L	probably benign	Het
Htt	A	T	5: 34,895,903	M2527L	probably benign	Het
Impdh2	A	T	9: 108,565,203	H466L	probably benign	Het
Itgae	G	A	11: 73,116,080	G384D	probably damaging	Het
Krt90	T	C	15: 101,553,279	S496G	unknown	Het
Krtap5-5	A	G	7: 142,229,377	S179P	unknown	Het
Lif	C	T	11: 4,269,044	R63W	probably damaging	Het
Lrrc10	T	C	10: 117,045,976	V185A	probably damaging	Het
Lrrc27	A	C	7: 139,242,732	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Map2k3	T	C	11: 60,932,229	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,408,124	T33A	probably benign	Het
Mefv	T	A	16: 3,708,018	D795V	probably damaging	Het
Megf6	A	T	4: 154,253,825	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,286,937	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,237,987		probably null	Het
Ndst4	A	G	3: 125,609,597	Y451C	probably damaging	Het
Nkain4	T	C	2: 180,935,982	N193S	possibly damaging	Het
Olfr1198	A	T	2: 88,746,405	I161N	probably damaging	Het
Olfr1330	G	A	4: 118,893,587	S168N	probably benign	Het
Olfr393	A	G	11: 73,847,817	F103L	probably damaging	Het
Olfr601	T	C	7: 103,358,918	H92R	probably benign	Het
Opa1	T	A	16: 29,613,989	L490H	probably damaging	Het
Opcml	A	C	9: 28,903,354	I301L	probably benign	Het
Pabpc1l	T	C	2: 164,042,549	L402P	probably benign	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Peak1	G	T	9: 56,260,170	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,722,962	P406L	probably benign	Het
Qpctl	T	C	7: 19,141,221	H362R	probably damaging	Het
Ripor2	A	G	13: 24,701,711	H643R	probably benign	Het
Scn11a	A	T	9: 119,755,094	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,764,089	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,335,733	D370G	probably benign	Het
Sec24b	A	T	3: 129,993,840	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 126,382,228	I172T	probably damaging	Het
Smc3	T	C	19: 53,634,113		probably null	Het
Smpd3	C	T	8: 106,265,193	V243M	probably damaging	Het
Sos1	T	A	17: 80,415,050	I856F	possibly damaging	Het
Sp2	A	T	11: 96,961,405	L231H	possibly damaging	Het
Syne1	T	C	10: 5,368,255	Y457C	probably damaging	Het
Tekt5	T	C	16: 10,395,404	T6A	possibly damaging	Het
Tln2	G	T	9: 67,355,247	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,181,171	S313P	probably damaging	Het
Trmt12	G	A	15: 58,872,975	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,472	D561G	probably benign	Het
Ttn	A	G	2: 76,870,425	V62A		Het
Tubgcp5	T	C	7: 55,817,429		probably null	Het
Unc13a	C	T	8: 71,645,731	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,619,396	C905R	probably damaging	Het
Zfp735	A	G	11: 73,711,536	I435M	probably benign	Het
Zswim4	C	A	8: 84,229,058	G271W	probably damaging	Het

Other mutations in Myom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Myom1	APN	17	71126098	missense	probably damaging	1.00
IGL00845:Myom1	APN	17	71084429	missense	probably damaging	1.00
IGL00904:Myom1	APN	17	71099949	splice site	probably benign
IGL00928:Myom1	APN	17	71089913	missense	probably damaging	1.00
IGL01025:Myom1	APN	17	71077917	missense	probably damaging	1.00
IGL01548:Myom1	APN	17	71101220	splice site	probably benign
IGL01588:Myom1	APN	17	71117437	missense	possibly damaging	0.94
IGL01614:Myom1	APN	17	71126178	missense	possibly damaging	0.46
IGL01618:Myom1	APN	17	71099993	missense	possibly damaging	0.87
IGL01619:Myom1	APN	17	71044476	splice site	probably benign
IGL01766:Myom1	APN	17	71077288	missense	probably damaging	1.00
IGL02105:Myom1	APN	17	71047716	splice site	probably benign
IGL02122:Myom1	APN	17	71092137	missense	probably damaging	1.00
IGL02184:Myom1	APN	17	71072137	missense	possibly damaging	0.93
IGL02260:Myom1	APN	17	71108315	nonsense	probably null
IGL02486:Myom1	APN	17	71099944	splice site	probably benign
IGL02501:Myom1	APN	17	71072081	critical splice acceptor site	probably null
IGL02642:Myom1	APN	17	71101098	missense	possibly damaging	0.90
IGL02677:Myom1	APN	17	71084349	missense	probably damaging	1.00
IGL02719:Myom1	APN	17	71106354	splice site	probably benign
IGL02945:Myom1	APN	17	71092093	splice site	probably benign
IGL03086:Myom1	APN	17	71108671	missense	probably damaging	1.00
IGL03218:Myom1	APN	17	71084316	missense	possibly damaging	0.46
R0107:Myom1	UTSW	17	71077365	missense	probably damaging	1.00
R0130:Myom1	UTSW	17	71045755	missense	probably damaging	0.98
R0133:Myom1	UTSW	17	71047787	missense	probably damaging	1.00
R0206:Myom1	UTSW	17	71037297	missense	probably damaging	1.00
R0206:Myom1	UTSW	17	71037297	missense	probably damaging	1.00
R0352:Myom1	UTSW	17	71045749	missense	possibly damaging	0.72
R0396:Myom1	UTSW	17	71034693	missense	probably damaging	1.00
R0496:Myom1	UTSW	17	71084306	missense	probably damaging	1.00
R0506:Myom1	UTSW	17	71092220	splice site	probably benign
R0511:Myom1	UTSW	17	71084317	missense	probably benign	0.22
R0600:Myom1	UTSW	17	71120648	missense	possibly damaging	0.48
R0699:Myom1	UTSW	17	71067313	missense	probably damaging	0.98
R0791:Myom1	UTSW	17	71121136	missense	probably damaging	1.00
R0792:Myom1	UTSW	17	71121136	missense	probably damaging	1.00
R0963:Myom1	UTSW	17	71077767	missense	possibly damaging	0.74
R1324:Myom1	UTSW	17	71052719	missense	probably damaging	0.98
R2102:Myom1	UTSW	17	71101029	missense	probably damaging	1.00
R2158:Myom1	UTSW	17	71064597	missense	possibly damaging	0.83
R2336:Myom1	UTSW	17	71023194	missense	possibly damaging	0.53
R2351:Myom1	UTSW	17	71034579	missense	probably damaging	0.98
R2442:Myom1	UTSW	17	71110735	missense	probably damaging	1.00
R2483:Myom1	UTSW	17	71077812	missense	probably damaging	1.00
R2892:Myom1	UTSW	17	71034653	missense	probably damaging	1.00
R2897:Myom1	UTSW	17	71101220	splice site	probably benign
R3440:Myom1	UTSW	17	71045663	splice site	probably null
R3842:Myom1	UTSW	17	71045624	missense	probably damaging	1.00
R4249:Myom1	UTSW	17	71092140	missense	probably damaging	1.00
R4329:Myom1	UTSW	17	71036353	missense	probably damaging	1.00
R4594:Myom1	UTSW	17	71100074	missense	possibly damaging	0.73
R4873:Myom1	UTSW	17	71072119	missense	probably damaging	1.00
R4875:Myom1	UTSW	17	71072119	missense	probably damaging	1.00
R4876:Myom1	UTSW	17	71077410	missense	probably damaging	1.00
R5171:Myom1	UTSW	17	71099972	missense	possibly damaging	0.94
R5540:Myom1	UTSW	17	71109787	missense	probably damaging	1.00
R5882:Myom1	UTSW	17	71110722	missense	probably damaging	1.00
R5978:Myom1	UTSW	17	71117443	missense	probably damaging	1.00
R6039:Myom1	UTSW	17	71110751	missense	probably damaging	1.00
R6039:Myom1	UTSW	17	71110751	missense	probably damaging	1.00
R6155:Myom1	UTSW	17	71108695	critical splice donor site	probably null
R6261:Myom1	UTSW	17	71126137	missense	probably damaging	1.00
R6284:Myom1	UTSW	17	71022892	nonsense	probably null
R6313:Myom1	UTSW	17	71082488	missense	probably benign
R6369:Myom1	UTSW	17	71101076	missense	probably damaging	1.00
R6545:Myom1	UTSW	17	71082305	missense	probably benign	0.00
R6738:Myom1	UTSW	17	71100398	splice site	probably null
R6933:Myom1	UTSW	17	71052671	missense	probably damaging	1.00
R7168:Myom1	UTSW	17	71089947	missense	probably benign	0.00
R7286:Myom1	UTSW	17	71045549	missense	possibly damaging	0.90
R7315:Myom1	UTSW	17	71080897	critical splice donor site	probably null
R7672:Myom1	UTSW	17	71084240	missense	possibly damaging	0.92
R7789:Myom1	UTSW	17	71117436	missense	probably benign	0.03
R7898:Myom1	UTSW	17	71045752	missense	probably benign	0.25
R8008:Myom1	UTSW	17	71100062	missense	probably benign	0.30
R8152:Myom1	UTSW	17	71084295	missense	probably damaging	0.96
R8554:Myom1	UTSW	17	71036453	missense	possibly damaging	0.94
R8874:Myom1	UTSW	17	71106204	missense	probably damaging	1.00
R8981:Myom1	UTSW	17	71084321	missense	probably benign	0.09
R9012:Myom1	UTSW	17	71100108	missense	probably benign	0.06
R9090:Myom1	UTSW	17	71067330	missense	probably damaging	1.00
R9193:Myom1	UTSW	17	71036300	missense	probably damaging	1.00
R9237:Myom1	UTSW	17	71101056	missense	probably damaging	1.00
R9271:Myom1	UTSW	17	71067330	missense	probably damaging	1.00
R9362:Myom1	UTSW	17	71036293	missense	probably benign	0.00
R9440:Myom1	UTSW	17	71126334	missense	probably benign	0.00
R9469:Myom1	UTSW	17	71061127	missense	possibly damaging	0.79
R9568:Myom1	UTSW	17	71087481	missense	probably damaging	1.00
R9612:Myom1	UTSW	17	71105480	nonsense	probably null
R9645:Myom1	UTSW	17	71092209	missense	probably benign	0.01
X0019:Myom1	UTSW	17	71100071	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGCAACTGTATGTATTACATGACCG -3'
(R):5'- TCTTCCACTGGATGTGTATACTAC -3'

Sequencing Primer
(F):5'- TCCGCATATGTGATGGAGATGAAATG -3'
(R):5'- CTACATGTAGTTACAGTGATCCTGG -3'

Posted On

2022-04-18