Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Myom1'

512876

Institutional Source

Beutler Lab

Gene Symbol

Myom1

Ensembl Gene

ENSMUSG00000024049

Gene Name

myomesin 1

Synonyms

skelemin, D430047A17Rik

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71326455-71433851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71408071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1104 (S1104P)

Ref Sequence

ENSEMBL: ENSMUSP00000024847 (fasta)

Gene Model

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

AlphaFold

Q62234

Predicted Effect

probably damaging
Transcript: ENSMUST00000024847
AA Change: S1104P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: S1104P

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: S1202P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: S1202P

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: S1104P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: S1104P

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

Meta Mutation Damage Score

0.2859

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 14,055,605 (GRCm39)	R571*	probably null	Het
Asb18	A	T	1: 89,942,193 (GRCm39)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atl2	T	C	17: 80,161,984 (GRCm39)	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,220,315 (GRCm39)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,531,765 (GRCm39)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,735,848 (GRCm39)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,839,073 (GRCm39)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,994,984 (GRCm39)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,848,381 (GRCm39)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,165,200 (GRCm39)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,585,020 (GRCm39)		probably benign	Het
Ctnna2	A	G	6: 76,957,678 (GRCm39)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Ero1a	T	C	14: 45,537,415 (GRCm39)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,845,212 (GRCm39)	M344T	unknown	Het
Frem1	A	T	4: 82,832,029 (GRCm39)		probably null	Het
Gjb5	G	T	4: 127,249,723 (GRCm39)	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hk2	G	T	6: 82,713,734 (GRCm39)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,411,427 (GRCm39)	I322F	probably benign	Het
Itga1	T	C	13: 115,102,196 (GRCm39)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,693 (GRCm39)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,304,355 (GRCm39)	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,618,209 (GRCm39)	D96E	probably benign	Het
Megf10	A	T	18: 57,394,259 (GRCm39)	D461V	probably benign	Het
Nab1	A	G	1: 52,529,381 (GRCm39)	L172P	probably damaging	Het
Or2g1	T	G	17: 38,106,387 (GRCm39)	D17E	probably benign	Het
Pate1	A	G	9: 35,598,324 (GRCm39)	V18A	probably benign	Het
Pink1	T	C	4: 138,048,045 (GRCm39)		probably null	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,889,840 (GRCm39)		probably null	Het
Rad52	A	G	6: 119,891,168 (GRCm39)	E76G	unknown	Het
Rad54l	A	G	4: 115,968,386 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,267,954 (GRCm39)	M17V	probably benign	Het
Rbm42	A	G	7: 30,340,738 (GRCm39)	M411T	unknown	Het
Reln	A	G	5: 22,256,359 (GRCm39)	I495T	probably benign	Het
Rnf224	A	G	2: 25,125,954 (GRCm39)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,095,909 (GRCm39)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,053,962 (GRCm39)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,008,483 (GRCm39)	N127K	probably benign	Het
Skint7	A	T	4: 111,837,490 (GRCm39)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,782,196 (GRCm39)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,799,982 (GRCm39)	F263I	probably damaging	Het
Sncaip	A	G	18: 53,001,676 (GRCm39)	I66V	probably damaging	Het
Syngr1	A	C	15: 79,999,791 (GRCm39)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm39)	Y554H	probably benign	Het
Tmem198	T	C	1: 75,456,387 (GRCm39)	V44A	probably benign	Het
Trappc11	T	C	8: 47,965,320 (GRCm39)		probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r111	C	T	17: 22,767,583 (GRCm39)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,410,308 (GRCm39)	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,907,831 (GRCm39)	V270A	probably benign	Het
Zfp92	G	A	X: 72,465,574 (GRCm39)	R189H	possibly damaging	Homo

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
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
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'- TGACAGGACTATCATGTATAGGGG -3'
(R):5'- AAGCCACTGAAATCTGCACG -3'

Sequencing Primer
(F):5'- GACTATCATGTATAGGGGGTCAG -3'
(R):5'- ACTGAAATCTGCACGGGTAC -3'

Posted On

2018-04-27