Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Myom1'

660048

Institutional Source

Beutler Lab

Gene Symbol

Myom1

Ensembl Gene

ENSMUSG00000024049

Gene Name

myomesin 1

Synonyms

skelemin, D430047A17Rik

MMRRC Submission

068517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71036453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 215 (E215G)

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: E215G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: E215G

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: E215G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: E215G

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
AA Change: E215G

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: E215G

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,296,897 (GRCm38)	Y94N	possibly damaging	Het
Adtrp	G	A	13: 41,816,160 (GRCm38)	T89I	possibly damaging	Het
Apc	T	C	18: 34,312,946 (GRCm38)	V947A	probably damaging	Het
Apob	A	C	12: 7,987,830 (GRCm38)	K334N	probably damaging	Het
BC048403	T	A	10: 121,740,055 (GRCm38)	I27N	probably benign	Het
Camk2d	A	T	3: 126,770,799 (GRCm38)	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,190,112 (GRCm38)	F98I	probably damaging	Het
Cd47	A	G	16: 49,867,941 (GRCm38)	T22A	probably benign	Het
Crat	A	G	2: 30,410,023 (GRCm38)	V115A	probably benign	Het
Csmd3	T	C	15: 47,644,142 (GRCm38)	M2992V	probably benign	Het
Dsg4	T	A	18: 20,453,043 (GRCm38)	N263K	probably damaging	Het
Eln	A	C	5: 134,710,110 (GRCm38)		probably benign	Het
Ep300	A	G	15: 81,639,027 (GRCm38)	E1284G	unknown	Het
Fam193a	T	A	5: 34,475,771 (GRCm38)	M122K	probably benign	Het
Fam46a	T	C	9: 85,326,731 (GRCm38)	D13G	possibly damaging	Het
Fam57a	A	G	11: 76,205,418 (GRCm38)	H124R	probably damaging	Het
Fcgr1	A	T	3: 96,292,472 (GRCm38)	W40R	probably damaging	Het
Gm3486	T	A	14: 41,487,162 (GRCm38)	Q84L	probably damaging	Het
Gm9513	A	G	9: 36,476,492 (GRCm38)	I25V	probably benign	Het
Golga2	G	A	2: 32,293,345 (GRCm38)	D80N	probably damaging	Het
Isg20	T	C	7: 78,916,677 (GRCm38)	Y125H	probably benign	Het
Kdf1	A	G	4: 133,528,877 (GRCm38)	I302V	probably damaging	Het
Krt33a	T	A	11: 100,012,383 (GRCm38)	T278S	possibly damaging	Het
Lrp1b	T	A	2: 41,344,483 (GRCm38)	Q1038L	probably benign	Het
March6	G	A	15: 31,482,830 (GRCm38)	H476Y	probably damaging	Het
Olfr1228	T	C	2: 89,249,251 (GRCm38)	T148A	possibly damaging	Het
Olfr132	T	A	17: 38,130,598 (GRCm38)	Q198L	probably damaging	Het
Olfr223	A	T	11: 59,589,486 (GRCm38)	L201Q	possibly damaging	Het
Pdlim2	T	A	14: 70,171,249 (GRCm38)	T173S	probably benign	Het
Pitpnb	T	C	5: 111,346,506 (GRCm38)	M74T	probably benign	Het
Pou2f2	C	A	7: 25,115,556 (GRCm38)		probably benign	Het
Rab35	A	C	5: 115,645,631 (GRCm38)		probably null	Het
Rasef	A	T	4: 73,727,607 (GRCm38)	D508E	probably benign	Het
Rev3l	T	C	10: 39,806,842 (GRCm38)	S319P	probably benign	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Rgl3	A	G	9: 21,988,863 (GRCm38)	S44P	probably benign	Het
Rnf214	C	A	9: 45,867,499 (GRCm38)		probably null	Het
Rpsa	T	C	9: 120,129,251 (GRCm38)	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923 (GRCm38)		probably benign	Het
Senp7	T	C	16: 56,158,610 (GRCm38)	V529A	probably benign	Het
Siglecg	C	T	7: 43,408,896 (GRCm38)	S69L	probably benign	Het
Sos1	G	T	17: 80,398,413 (GRCm38)	T1243K	probably damaging	Het
Tmc2	A	G	2: 130,264,164 (GRCm38)	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,296,941 (GRCm38)	C107W	probably damaging	Het
Tnn	T	C	1: 160,110,416 (GRCm38)	Y913C	probably damaging	Het
Ttn	T	C	2: 76,738,032 (GRCm38)	T19179A	probably damaging	Het
Usp42	T	A	5: 143,720,382 (GRCm38)	K294N	probably damaging	Het
Vmn1r123	T	A	7: 21,163,046 (GRCm38)	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,308,206 (GRCm38)	*304K	probably null	Het
Vmn2r1	T	C	3: 64,089,913 (GRCm38)	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,364,131 (GRCm38)	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,946,752 (GRCm38)	I241M	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTGTCGTTGTCACACCG -3'
(R):5'- TCGTTCTGCCCTTGAGACAAAC -3'

Sequencing Primer
(F):5'- ACTGTTTCAGGCAAGTGCAC -3'
(R):5'- GTTCTGCCCTTGAGACAAACTAGTC -3'

Posted On

2021-01-18