Mutagenetix > Incidental Mutations

Incidental Mutation 'R2102:Myom1'

230630

Institutional Source

Beutler Lab

Gene Symbol

Myom1

Ensembl Gene

ENSMUSG00000024049

Gene Name

myomesin 1

Synonyms

skelemin, D430047A17Rik

MMRRC Submission

040106-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71019521-71126856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71101029 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1088 (D1088V)

Ref Sequence

ENSEMBL: ENSMUSP00000136266 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024847
AA Change: D1088V

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

SMART Domains

Protein: ENSMUSP00000024847
Gene: ENSMUSG00000024049
AA Change: D1088V

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: D1186V

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

SMART Domains

Protein: ENSMUSP00000072945
Gene: ENSMUSG00000024049
AA Change: D1186V

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: D1088V

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

SMART Domains

Protein: ENSMUSP00000136266
Gene: ENSMUSG00000024049
AA Change: D1088V

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,065,173	L41P	probably damaging	Het
1700061G19Rik	T	A	17: 56,884,949	Y542*	probably null	Het
3632451O06Rik	A	G	14: 49,774,002	Y83H	probably damaging	Het
Abca8a	G	T	11: 110,068,052	P749T	probably damaging	Het
Acad8	A	T	9: 26,985,565	Y199*	probably null	Het
Acot12	A	T	13: 91,759,977	I93L	probably benign	Het
Actn1	C	A	12: 80,183,517	R321L	probably benign	Het
Ap3s1	A	G	18: 46,754,402	E34G	possibly damaging	Het
Atp5a1	T	C	18: 77,782,317	S533P	probably damaging	Het
Bcorl1	T	C	X: 48,369,204	V538A	probably benign	Het
Cdhr4	A	G	9: 107,998,007	T689A	probably damaging	Het
Cdk19	A	T	10: 40,479,730		probably benign	Het
Cobll1	G	T	2: 65,098,210	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,371,585	S456P	probably benign	Het
Cst11	T	C	2: 148,771,240	Y55C	probably damaging	Het
Ctif	T	G	18: 75,521,381	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,616,773	E386A	probably benign	Het
Dcxr	A	G	11: 120,726,307	F104L	probably benign	Het
Dmbt1	G	T	7: 131,102,032	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,333,773	I567F	probably damaging	Het
Ednrb	T	A	14: 103,820,914	R318*	probably null	Het
Exd2	T	C	12: 80,480,603	I36T	possibly damaging	Het
Fam205c	T	A	4: 42,868,558	H355L	probably benign	Het
Fam83b	A	T	9: 76,492,705	I372N	probably damaging	Het
Fbxo18	A	G	2: 11,758,289	V518A	probably benign	Het
Fkbp5	T	C	17: 28,406,188	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,956,229	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,999,979		probably benign	Het
Galnt17	C	T	5: 131,085,993	R223Q	probably damaging	Het
Gm10696	A	T	3: 94,175,666	C279*	probably null	Het
Gm14496	G	A	2: 181,991,334	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,666,035	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,694,132	N292S	probably damaging	Het
Ints1	C	T	5: 139,755,999	V1826M	possibly damaging	Het
Itgb4	A	G	11: 116,005,735	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,830,147	D1552G	probably damaging	Het
Kel	G	A	6: 41,686,484	T702I	possibly damaging	Het
Klf3	T	C	5: 64,821,923	V36A	probably damaging	Het
Klhl23	A	T	2: 69,828,884	I418F	probably damaging	Het
Kndc1	A	T	7: 139,930,761	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,614,780		probably benign	Het
Krtap9-5	T	A	11: 99,949,444	C324S	unknown	Het
Lepr	T	C	4: 101,772,981	V631A	possibly damaging	Het
Lifr	T	C	15: 7,186,923	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,511,731	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,919,429		probably benign	Het
Mmp12	G	A	9: 7,349,802	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,388,886	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,375,633	T246A	possibly damaging	Het
Myo7b	A	T	18: 31,999,978	F439L	probably damaging	Het
Nrcam	T	C	12: 44,576,688	F1004S	probably benign	Het
Palld	A	T	8: 61,533,433	M788K	possibly damaging	Het
Pappa	T	A	4: 65,316,228	Y1423*	probably null	Het
Pfkm	A	G	15: 98,129,290	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,081,469	D105E	probably damaging	Het
Plekha5	G	A	6: 140,572,877	A297T	probably damaging	Het
Plxnb1	T	A	9: 109,115,742	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,278,746	T524A	probably damaging	Het
Psg26	T	C	7: 18,475,142	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,282,389	D1225G	probably benign	Het
Rep15	A	G	6: 147,032,905		probably null	Het
Rgl2	G	A	17: 33,933,340		probably null	Het
Rpl7a	T	G	2: 26,911,461	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,431,358	I158F	probably benign	Het
Scaper	A	T	9: 55,912,050	V127E	probably benign	Het
Sele	T	A	1: 164,053,826	C501S	probably damaging	Het
Serpina11	C	T	12: 103,982,845	V358I	probably benign	Het
Slc16a4	A	G	3: 107,304,503		probably null	Het
Slco6c1	T	C	1: 97,127,931	I82V	probably benign	Het
Smarca5	T	C	8: 80,704,675	E971G	probably damaging	Het
Smr2	T	C	5: 88,108,736	L91P	probably damaging	Het
Srrm2	A	G	17: 23,817,748		probably benign	Het
Syne1	A	G	10: 5,056,514	W7980R	probably damaging	Het
Syne2	A	G	12: 76,028,079	T4598A	probably benign	Het
Tmem171	A	T	13: 98,692,343	F100I	probably damaging	Het
Tmem173	A	T	18: 35,735,237	M270K	probably damaging	Het
Tnfrsf10b	A	G	14: 69,776,097	T159A	probably benign	Het
Tph1	A	T	7: 46,660,410		probably null	Het
Trim46	A	T	3: 89,235,197	I638N	probably damaging	Het
Ubl7	G	A	9: 57,920,542	D171N	probably damaging	Het
Utp20	A	G	10: 88,772,917	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,293,500	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,692,507	V148E	probably damaging	Het
Zbed3	A	G	13: 95,336,107	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,600,759	L99Q	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
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	intron	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
R6933:Myom1	UTSW	17	71052671	missense	probably damaging	1.00
X0019:Myom1	UTSW	17	71100071	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AAGACACCAAGAGCTAGTGATC -3'
(R):5'- TGAGGGCAAGCAGACGTTTC -3'

Sequencing Primer
(F):5'- CCAAGAGCTAGTGATCTTTAGCTCAG -3'
(R):5'- AGGGCAAGCAGACGTTTCATTTC -3'

Posted On

2014-09-18