Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Myom1'

715390

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 #

R9469 (G1)

Quality Score

177.009

Status

Not validated

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71061127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 482 (A482S)

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: A482S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: A482S

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

possibly damaging
Transcript: ENSMUST00000073211
AA Change: A482S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: A482S

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

possibly damaging
Transcript: ENSMUST00000179759
AA Change: A482S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: A482S

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: 99.5%
20x: 98.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,283	D8V	probably benign	Het
Ada	T	A	2: 163,732,272	M155L	probably benign	Het
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Ahnak	G	A	19: 9,010,861	G3170R	probably damaging	Het
Alb	G	A	5: 90,462,800	D80N	probably benign	Het
Amph	G	T	13: 19,086,599	G126V	probably damaging	Het
Anks1b	A	T	10: 90,897,343	M994L	possibly damaging	Het
Atp8a2	A	G	14: 59,791,219	L933P	probably benign	Het
Bcas1	T	C	2: 170,349,372	D546G	possibly damaging	Het
Bmpr2	A	C	1: 59,842,769	M186L	probably benign	Het
Clca3a2	T	C	3: 144,802,177	I711V	probably damaging	Het
Cobll1	G	A	2: 65,136,430	T128I	probably damaging	Het
Cog4	T	C	8: 110,882,172	W165R	unknown	Het
Cyp2j5	G	A	4: 96,629,494	R494*	probably null	Het
Dnah2	G	A	11: 69,431,070	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,000	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,267,890	I150T	probably damaging	Het
Ehd2	A	T	7: 15,950,407	I489N	probably damaging	Het
Fam24a	C	A	7: 131,336,663	T94K	probably damaging	Het
Gata2	A	G	6: 88,205,319	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,193,312	I299V	unknown	Het
Gpr161	A	G	1: 165,306,327	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,658,620	Q15*	probably null	Het
Hus1	A	G	11: 8,998,744	V219A	probably benign	Het
Il5	T	C	11: 53,723,997	W129R	probably damaging	Het
Ipmk	A	G	10: 71,366,013	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,465,402	L136P	probably benign	Het
Klhl2	G	A	8: 64,743,035	A558V	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lig3	G	A	11: 82,795,373	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,214,900	S664P	probably benign	Het
Megf6	A	G	4: 154,250,912	Y276C	probably damaging	Het
Mlph	A	G	1: 90,928,346	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,720,282	R316S	probably damaging	Het
Myo18b	T	C	5: 112,846,381	D902G	probably benign	Het
Myocd	A	G	11: 65,196,394	S236P	probably benign	Het
Nol4	A	G	18: 22,952,261	V32A	probably damaging	Het
Nrp2	T	C	1: 62,764,871	Y555H	probably damaging	Het
Olfr101	T	C	17: 37,300,065	D119G	probably damaging	Het
Olfr1065	C	A	2: 86,445,443	D180Y	probably damaging	Het
Olfr1426	G	A	19: 12,088,070	H241Y	probably benign	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Papss1	A	G	3: 131,583,198	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,644,402	M39V	probably benign	Het
Plcl2	G	A	17: 50,606,925	D321N	probably benign	Het
Plxna4	G	A	6: 32,517,591	P30L	probably benign	Het
Pou2f1	G	A	1: 165,913,261	T113I	probably benign	Het
Ptpn2	T	A	18: 67,675,837	H303L	probably benign	Het
R3hdm1	T	A	1: 128,179,184		probably null	Het
Rdx	T	C	9: 52,065,769	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,926,360	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,596,597	L671Q	probably damaging	Het
Scube3	C	A	17: 28,167,164	S793*	probably null	Het
Sipa1l3	A	T	7: 29,329,056	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,922,891	N124K	probably benign	Het
Smarcd2	G	A	11: 106,272,506	A68V	probably benign	Het
Smg1	T	C	7: 118,140,551	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,208,915	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,491,967	Q96L	probably damaging	Het
Tcaf3	A	G	6: 42,596,894	I128T	probably benign	Het
Tfdp1	C	T	8: 13,372,965	T290M	probably benign	Het
Ticrr	C	T	7: 79,694,763	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,273,763	Q171L	probably benign	Het
Tmem40	G	A	6: 115,742,360	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,528,249		probably null	Het
Top1mt	A	G	15: 75,667,893	Y290H	probably damaging	Het
Topaz1	A	T	9: 122,748,520	D165V	probably damaging	Het
Trim44	T	C	2: 102,400,306	S127G	unknown	Het
Ubac1	G	A	2: 26,007,751	R286C	probably damaging	Het
Ube2u	A	G	4: 100,549,761	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,011,931	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,484,119	V515E	probably damaging	Het
Vps13d	A	G	4: 145,054,121	L4011P		Het
Ythdc2	T	C	18: 44,886,316	F1384S	probably damaging	Het
Zfp423	T	A	8: 87,782,891	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,786,206	K93E	probably benign	Het
Zfp980	G	T	4: 145,701,117	G139W	probably benign	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
R9355:Myom1	UTSW	17	71077893	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
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'- CTCATCTAATGATCTTCCACCAGAAG -3'
(R):5'- GGAAATCAAGCGCACATCTGG -3'

Sequencing Primer
(F):5'- GTGGAAAGCATACCTTGTTATATTGC -3'
(R):5'- TCTGGACACCTACAGAACTATGACTG -3'

Posted On

2022-06-15