Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00928:Myom1'

29277

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00928

Quality Score

Status

Chromosome

Chromosomal Location

71326455-71433851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71396908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 954 (V954A)

Ref Sequence

ENSEMBL: ENSMUSP00000136266 (fasta)

Gene Model

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

AlphaFold

Q62234

Predicted Effect

probably damaging
Transcript: ENSMUST00000024847
AA Change: V954A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: V954A

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: V1052A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: V1052A

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: V954A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: V954A

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,217,720 (GRCm39)		probably benign	Het
Ablim3	T	C	18: 61,982,477 (GRCm39)	E156G	possibly damaging	Het
Adgrb2	A	G	4: 129,886,096 (GRCm39)	T79A	probably benign	Het
Arel1	A	T	12: 84,980,936 (GRCm39)	V357E	probably damaging	Het
Asph	T	C	4: 9,594,675 (GRCm39)	I241V	probably benign	Het
B3galt2	A	G	1: 143,522,893 (GRCm39)	Y343C	probably damaging	Het
Brf1	A	G	12: 112,927,220 (GRCm39)		probably benign	Het
Col3a1	A	G	1: 45,380,018 (GRCm39)		probably benign	Het
Cps1	A	C	1: 67,162,393 (GRCm39)	T24P	probably benign	Het
Cyp3a25	A	G	5: 145,923,764 (GRCm39)	L293P	possibly damaging	Het
Engase	C	A	11: 118,373,796 (GRCm39)	R313S	possibly damaging	Het
Espn	A	G	4: 152,220,059 (GRCm39)	S28P	probably damaging	Het
Gnas	T	A	2: 174,139,746 (GRCm39)	L31*	probably null	Het
Gorasp2	A	G	2: 70,521,208 (GRCm39)	T393A	probably benign	Het
Gpc6	T	A	14: 117,163,370 (GRCm39)	V8E	possibly damaging	Het
Gtf2a1l	T	C	17: 89,001,890 (GRCm39)	S202P	probably benign	Het
Gucy1a2	T	C	9: 3,759,777 (GRCm39)	F528L	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Igsf10	T	C	3: 59,238,018 (GRCm39)	H721R	probably benign	Het
Kcnu1	T	C	8: 26,339,763 (GRCm39)	F27S	probably damaging	Het
Mprip	T	A	11: 59,635,578 (GRCm39)	W366R	probably damaging	Het
Nudt13	T	C	14: 20,366,231 (GRCm39)	I303T	possibly damaging	Het
Or10s1	T	A	9: 39,986,072 (GRCm39)	H160Q	probably damaging	Het
Or2h1	A	C	17: 37,404,224 (GRCm39)	S181A	probably benign	Het
Orc4	A	G	2: 48,800,281 (GRCm39)	V289A	probably benign	Het
Pamr1	C	A	2: 102,469,686 (GRCm39)	Q411K	probably benign	Het
Pdcl	A	G	2: 37,247,386 (GRCm39)	M1T	probably null	Het
Phf20	T	C	2: 156,146,736 (GRCm39)		probably null	Het
Pla2r1	T	C	2: 60,365,424 (GRCm39)	S49G	probably damaging	Het
Ppp2r3c	A	G	12: 55,339,283 (GRCm39)		probably null	Het
Rdh14	G	A	12: 10,444,803 (GRCm39)	S218N	probably damaging	Het
Rfx4	A	G	10: 84,675,978 (GRCm39)	R16G	probably benign	Het
Scarb2	A	C	5: 92,594,203 (GRCm39)	F453C	probably damaging	Het
Sh2d7	A	G	9: 54,448,515 (GRCm39)	T179A	probably benign	Het
Spag6l	C	T	16: 16,584,877 (GRCm39)	A424T	possibly damaging	Het
Trim71	T	C	9: 114,354,083 (GRCm39)	D307G	probably benign	Het
Ufl1	A	T	4: 25,267,790 (GRCm39)	L294M	probably damaging	Het
Wdr93	C	A	7: 79,425,301 (GRCm39)	P540Q	probably damaging	Het
Wmp	T	A	X: 106,989,449 (GRCm39)	E488V	possibly 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
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
R2442:Myom1	UTSW	17	71,417,730 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-04-17