Mutagenetix > Incidental Mutation

Incidental Mutation 'R2442:Myom1'

249844

Institutional Source

Beutler Lab

Gene Symbol

Myom1

Ensembl Gene

ENSMUSG00000024049

Gene Name

myomesin 1

Synonyms

skelemin, D430047A17Rik

MMRRC Submission

040400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2442 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71326455-71433851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71417730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1409 (E1409G)

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 benign
Transcript: ENSMUST00000024847
AA Change: E1311G

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: E1311G

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: E1409G

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

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: E1409G

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: E1311G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: E1311G

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,606 (GRCm39)	V256A	probably benign	Het
Acap1	T	C	11: 69,780,317 (GRCm39)	N42S	possibly damaging	Het
Apoo-ps	C	A	13: 107,551,140 (GRCm39)		noncoding transcript	Het
Bri3	C	T	5: 144,181,411 (GRCm39)	T39I	probably benign	Het
Bsn	A	G	9: 107,984,119 (GRCm39)	S3312P	unknown	Het
Camkmt	C	A	17: 85,398,203 (GRCm39)	A17E	possibly damaging	Het
Cc2d2a	G	T	5: 43,828,647 (GRCm39)		probably null	Het
Ccdc122	G	T	14: 77,329,398 (GRCm39)	M150I	possibly damaging	Het
Celf4	A	G	18: 25,886,516 (GRCm39)	F57L	probably damaging	Het
Cep192	T	A	18: 67,957,759 (GRCm39)	F564Y	possibly damaging	Het
Ces1c	T	C	8: 93,849,840 (GRCm39)	D38G	probably damaging	Het
Cts7	C	A	13: 61,503,431 (GRCm39)	G178*	probably null	Het
Dcc	A	T	18: 71,589,954 (GRCm39)	Y681N	probably damaging	Het
Dhx29	A	G	13: 113,083,508 (GRCm39)	E521G	possibly damaging	Het
Dnase2a	T	C	8: 85,635,622 (GRCm39)	V35A	probably damaging	Het
Eif3l	A	G	15: 78,969,807 (GRCm39)	M268V	probably damaging	Het
Foxc1	A	G	13: 31,992,781 (GRCm39)	M531V	unknown	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Ifit1bl1	G	A	19: 34,572,289 (GRCm39)	A56V	probably benign	Het
Iqsec1	T	C	6: 90,666,865 (GRCm39)	E524G	possibly damaging	Het
Kcnt2	A	G	1: 140,304,091 (GRCm39)	I154V	possibly damaging	Het
Kdm1b	T	A	13: 47,216,451 (GRCm39)	Y274N	probably benign	Het
Kntc1	T	A	5: 123,948,922 (GRCm39)	L1889Q	probably damaging	Het
Lama1	A	G	17: 68,075,312 (GRCm39)	T1010A	probably benign	Het
Mmp11	T	C	10: 75,763,079 (GRCm39)	N171S	probably benign	Het
N4bp1	A	G	8: 87,588,668 (GRCm39)	I90T	probably damaging	Het
Or4c52	T	C	2: 89,845,685 (GRCm39)	V137A	probably benign	Het
Plcb4	T	C	2: 135,792,302 (GRCm39)	S342P	probably damaging	Het
Plg	A	G	17: 12,629,847 (GRCm39)	E627G	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc7a14	A	G	3: 31,284,469 (GRCm39)	I289T	probably damaging	Het
Srpra	G	A	9: 35,123,297 (GRCm39)	G43S	possibly damaging	Het
Tbc1d9	T	C	8: 83,892,705 (GRCm39)	M1T	probably null	Het
Tcte2	A	T	17: 13,934,339 (GRCm39)	I90N	possibly damaging	Het
Trim30c	G	A	7: 104,031,481 (GRCm39)	P445S	probably damaging	Het
Trrap	A	G	5: 144,754,776 (GRCm39)	Q1984R	probably damaging	Het
Ubn2	T	C	6: 38,467,940 (GRCm39)	S885P	probably benign	Het
Unc45a	A	G	7: 79,989,417 (GRCm39)	F17S	probably damaging	Het
Uts2b	C	T	16: 27,179,782 (GRCm39)	V75I	probably benign	Het
Vmn2r103	A	G	17: 19,993,793 (GRCm39)	K57E	probably benign	Het
Vmn2r82	A	G	10: 79,221,210 (GRCm39)	S524G	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
IGL02122:Myom1	APN	17	71,399,132 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCCCAAGGTTGAGCTCTG -3'
(R):5'- AACAGTACTTTGCTCCGCTG -3'

Sequencing Primer
(F):5'- AAGGTTGAGCTCTGCTTCTAC -3'
(R):5'- AGTACTTTGCTCCGCTGGAATTTC -3'

Posted On

2014-11-12