Incidental Mutation 'IGL00423:Myh2'
ID | 4578 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myh2
|
Ensembl Gene |
ENSMUSG00000033196 |
Gene Name | myosin, heavy polypeptide 2, skeletal muscle, adult |
Synonyms | MHC2A, Myhs-f, Myhsf1, Myhs-f1, MyHC-IIa |
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.240)
|
Stock # | IGL00423
|
Quality Score | |
Status |
|
Chromosome | 11 |
Chromosomal Location | 67171027-67197517 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 67197345 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1929
(V1929A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018637]
[ENSMUST00000018641]
[ENSMUST00000075734]
[ENSMUST00000124516]
[ENSMUST00000129018]
[ENSMUST00000170159]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000018637
|
SMART Domains |
Protein: ENSMUSP00000018637 Gene: ENSMUSG00000056328
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
35 |
76 |
1.8e-15 |
PFAM |
MYSc
|
80 |
786 |
N/A |
SMART |
IQ
|
787 |
809 |
1.18e-3 |
SMART |
low complexity region
|
860 |
883 |
N/A |
INTRINSIC |
low complexity region
|
931 |
945 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
1075 |
1933 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000018641
AA Change: V1929A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000018641 Gene: ENSMUSG00000033196 AA Change: V1929A
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
35 |
76 |
2.1e-16 |
PFAM |
MYSc
|
80 |
786 |
N/A |
SMART |
IQ
|
787 |
809 |
3.13e-3 |
SMART |
IQ
|
813 |
835 |
3.14e2 |
SMART |
low complexity region
|
850 |
862 |
N/A |
INTRINSIC |
low complexity region
|
931 |
945 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
1075 |
1933 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075734
|
SMART Domains |
Protein: ENSMUSP00000075147 Gene: ENSMUSG00000056328
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
35 |
74 |
7.2e-14 |
PFAM |
MYSc
|
80 |
786 |
N/A |
SMART |
IQ
|
787 |
809 |
1.18e-3 |
SMART |
Pfam:Myosin_tail_1
|
850 |
1931 |
1.9e-165 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124516
|
SMART Domains |
Protein: ENSMUSP00000117569 Gene: ENSMUSG00000056328
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
35 |
76 |
1.8e-15 |
PFAM |
MYSc
|
80 |
786 |
N/A |
SMART |
IQ
|
787 |
809 |
1.18e-3 |
SMART |
low complexity region
|
860 |
883 |
N/A |
INTRINSIC |
low complexity region
|
931 |
945 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
1075 |
1933 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129018
|
SMART Domains |
Protein: ENSMUSP00000115583 Gene: ENSMUSG00000056328
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
35 |
76 |
1.7e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145346
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170159
AA Change: V1929A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129544 Gene: ENSMUSG00000033196 AA Change: V1929A
Domain | Start | End | E-Value | Type |
Pfam:Myosin_N
|
35 |
74 |
1.4e-14 |
PFAM |
MYSc
|
80 |
786 |
N/A |
SMART |
IQ
|
787 |
809 |
3.13e-3 |
SMART |
IQ
|
813 |
835 |
3.14e2 |
SMART |
Pfam:Myosin_tail_1
|
850 |
1931 |
4e-166 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930452B06Rik |
G |
A |
14: 8,473,370 |
P600S |
possibly damaging |
Het |
Acan |
A |
G |
7: 79,097,824 |
E781G |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,614,697 |
T358A |
possibly damaging |
Het |
Adamtsl2 |
C |
A |
2: 27,085,088 |
T199K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 127,028,289 |
S179T |
probably damaging |
Het |
BC048671 |
A |
G |
6: 90,303,218 |
T39A |
probably benign |
Het |
Cnr1 |
G |
A |
4: 33,944,116 |
S168N |
probably damaging |
Het |
Cp |
T |
C |
3: 19,985,662 |
V881A |
possibly damaging |
Het |
Cyp4x1 |
T |
C |
4: 115,121,948 |
T151A |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,395,758 |
I48T |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,163,817 |
I253N |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,868,715 |
I407K |
probably damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,268,704 |
H457Q |
probably benign |
Het |
Mboat1 |
A |
G |
13: 30,195,793 |
|
probably benign |
Het |
Nucb2 |
T |
A |
7: 116,521,831 |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,642,559 |
N383S |
probably benign |
Het |
Pde1a |
A |
G |
2: 79,865,670 |
L443P |
probably damaging |
Het |
Prph2 |
A |
T |
17: 46,919,778 |
N199I |
probably damaging |
Het |
Rab27b |
A |
G |
18: 69,996,067 |
|
probably null |
Het |
Ranbp3 |
G |
A |
17: 56,709,238 |
D336N |
probably damaging |
Het |
Rangap1 |
T |
C |
15: 81,721,993 |
D49G |
probably benign |
Het |
Rasa3 |
G |
A |
8: 13,595,410 |
|
probably benign |
Het |
Serpina6 |
T |
A |
12: 103,651,903 |
N217I |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 45,799,706 |
|
probably null |
Het |
Spire1 |
A |
G |
18: 67,529,015 |
V116A |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,851,464 |
V652A |
possibly damaging |
Het |
Tmprss11g |
T |
C |
5: 86,492,191 |
E193G |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,777,579 |
V213D |
probably benign |
Het |
|
Other mutations in Myh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00226:Myh2
|
APN |
11 |
67185233 |
missense |
possibly damaging |
0.88 |
IGL00330:Myh2
|
APN |
11 |
67193440 |
missense |
probably benign |
0.06 |
IGL00429:Myh2
|
APN |
11 |
67180790 |
nonsense |
probably null |
|
IGL00465:Myh2
|
APN |
11 |
67178833 |
splice site |
probably benign |
|
IGL00671:Myh2
|
APN |
11 |
67193357 |
missense |
probably damaging |
0.97 |
IGL00773:Myh2
|
APN |
11 |
67194421 |
missense |
probably benign |
|
IGL00821:Myh2
|
APN |
11 |
67197397 |
utr 3 prime |
probably benign |
|
IGL00900:Myh2
|
APN |
11 |
67179384 |
missense |
probably damaging |
1.00 |
IGL01374:Myh2
|
APN |
11 |
67177424 |
missense |
probably benign |
0.05 |
IGL01613:Myh2
|
APN |
11 |
67197344 |
missense |
probably benign |
0.01 |
IGL01845:Myh2
|
APN |
11 |
67193034 |
missense |
probably benign |
0.02 |
IGL01900:Myh2
|
APN |
11 |
67183783 |
missense |
probably benign |
0.01 |
IGL01936:Myh2
|
APN |
11 |
67191773 |
missense |
possibly damaging |
0.94 |
IGL02129:Myh2
|
APN |
11 |
67185258 |
missense |
probably benign |
0.05 |
IGL02172:Myh2
|
APN |
11 |
67189052 |
missense |
possibly damaging |
0.78 |
IGL02554:Myh2
|
APN |
11 |
67189165 |
missense |
probably benign |
0.00 |
IGL02578:Myh2
|
APN |
11 |
67186691 |
missense |
probably benign |
0.33 |
IGL03075:Myh2
|
APN |
11 |
67180836 |
missense |
probably benign |
0.39 |
IGL03078:Myh2
|
APN |
11 |
67190430 |
missense |
probably benign |
|
IGL03117:Myh2
|
APN |
11 |
67180884 |
missense |
possibly damaging |
0.91 |
IGL03255:Myh2
|
APN |
11 |
67193225 |
missense |
probably damaging |
1.00 |
IGL03266:Myh2
|
APN |
11 |
67176324 |
missense |
probably benign |
|
IGL03366:Myh2
|
APN |
11 |
67183523 |
missense |
probably damaging |
1.00 |
IGL03412:Myh2
|
APN |
11 |
67189569 |
missense |
probably benign |
0.04 |
limp
|
UTSW |
11 |
67192504 |
missense |
probably damaging |
1.00 |
noodle
|
UTSW |
11 |
67186612 |
missense |
probably benign |
|
PIT4403001:Myh2
|
UTSW |
11 |
67186707 |
missense |
probably benign |
0.22 |
PIT4508001:Myh2
|
UTSW |
11 |
67185505 |
missense |
probably benign |
0.00 |
PIT4677001:Myh2
|
UTSW |
11 |
67181992 |
missense |
probably benign |
|
R0039:Myh2
|
UTSW |
11 |
67178277 |
missense |
probably damaging |
1.00 |
R0347:Myh2
|
UTSW |
11 |
67185304 |
splice site |
probably benign |
|
R0389:Myh2
|
UTSW |
11 |
67180821 |
missense |
probably damaging |
1.00 |
R0400:Myh2
|
UTSW |
11 |
67192598 |
splice site |
probably benign |
|
R0512:Myh2
|
UTSW |
11 |
67188678 |
missense |
probably damaging |
1.00 |
R0555:Myh2
|
UTSW |
11 |
67178967 |
missense |
probably damaging |
1.00 |
R0746:Myh2
|
UTSW |
11 |
67173431 |
missense |
probably benign |
0.00 |
R0842:Myh2
|
UTSW |
11 |
67179524 |
missense |
possibly damaging |
0.83 |
R0893:Myh2
|
UTSW |
11 |
67186508 |
missense |
possibly damaging |
0.82 |
R1218:Myh2
|
UTSW |
11 |
67192525 |
missense |
probably damaging |
0.99 |
R1264:Myh2
|
UTSW |
11 |
67180778 |
missense |
probably damaging |
0.96 |
R1398:Myh2
|
UTSW |
11 |
67185287 |
missense |
probably benign |
0.14 |
R1774:Myh2
|
UTSW |
11 |
67173474 |
missense |
possibly damaging |
0.96 |
R1800:Myh2
|
UTSW |
11 |
67188938 |
missense |
probably damaging |
0.99 |
R1829:Myh2
|
UTSW |
11 |
67176559 |
missense |
probably damaging |
0.98 |
R1840:Myh2
|
UTSW |
11 |
67186487 |
missense |
probably benign |
0.16 |
R1888:Myh2
|
UTSW |
11 |
67180850 |
missense |
probably damaging |
0.99 |
R1888:Myh2
|
UTSW |
11 |
67180850 |
missense |
probably damaging |
0.99 |
R1969:Myh2
|
UTSW |
11 |
67189178 |
missense |
possibly damaging |
0.67 |
R1971:Myh2
|
UTSW |
11 |
67189178 |
missense |
possibly damaging |
0.67 |
R1985:Myh2
|
UTSW |
11 |
67180914 |
missense |
possibly damaging |
0.65 |
R2021:Myh2
|
UTSW |
11 |
67191719 |
missense |
probably damaging |
1.00 |
R2029:Myh2
|
UTSW |
11 |
67194625 |
missense |
possibly damaging |
0.85 |
R2057:Myh2
|
UTSW |
11 |
67188839 |
critical splice donor site |
probably null |
|
R2080:Myh2
|
UTSW |
11 |
67174941 |
critical splice acceptor site |
probably null |
|
R2142:Myh2
|
UTSW |
11 |
67189332 |
missense |
probably damaging |
1.00 |
R2215:Myh2
|
UTSW |
11 |
67191737 |
missense |
probably benign |
0.35 |
R2225:Myh2
|
UTSW |
11 |
67193729 |
missense |
probably benign |
|
R2274:Myh2
|
UTSW |
11 |
67190358 |
missense |
possibly damaging |
0.84 |
R3018:Myh2
|
UTSW |
11 |
67179584 |
missense |
possibly damaging |
0.67 |
R3113:Myh2
|
UTSW |
11 |
67185186 |
missense |
probably damaging |
1.00 |
R3703:Myh2
|
UTSW |
11 |
67189601 |
missense |
probably benign |
0.01 |
R4022:Myh2
|
UTSW |
11 |
67179404 |
nonsense |
probably null |
|
R4081:Myh2
|
UTSW |
11 |
67190430 |
missense |
probably benign |
0.11 |
R4191:Myh2
|
UTSW |
11 |
67177400 |
missense |
possibly damaging |
0.81 |
R4291:Myh2
|
UTSW |
11 |
67181159 |
missense |
probably benign |
0.01 |
R4292:Myh2
|
UTSW |
11 |
67194897 |
missense |
possibly damaging |
0.46 |
R4424:Myh2
|
UTSW |
11 |
67192725 |
missense |
probably benign |
0.01 |
R4524:Myh2
|
UTSW |
11 |
67176270 |
missense |
probably damaging |
1.00 |
R4578:Myh2
|
UTSW |
11 |
67173258 |
missense |
possibly damaging |
0.85 |
R4597:Myh2
|
UTSW |
11 |
67189418 |
missense |
probably benign |
0.01 |
R4641:Myh2
|
UTSW |
11 |
67194694 |
missense |
probably damaging |
1.00 |
R4672:Myh2
|
UTSW |
11 |
67188477 |
missense |
probably damaging |
1.00 |
R4673:Myh2
|
UTSW |
11 |
67188477 |
missense |
probably damaging |
1.00 |
R4804:Myh2
|
UTSW |
11 |
67186502 |
missense |
possibly damaging |
0.78 |
R4818:Myh2
|
UTSW |
11 |
67176255 |
missense |
probably damaging |
1.00 |
R4943:Myh2
|
UTSW |
11 |
67197317 |
missense |
probably damaging |
1.00 |
R4958:Myh2
|
UTSW |
11 |
67192959 |
missense |
possibly damaging |
0.83 |
R5139:Myh2
|
UTSW |
11 |
67179348 |
missense |
probably damaging |
1.00 |
R5239:Myh2
|
UTSW |
11 |
67192443 |
missense |
probably benign |
0.00 |
R5306:Myh2
|
UTSW |
11 |
67186556 |
missense |
probably damaging |
1.00 |
R5492:Myh2
|
UTSW |
11 |
67180875 |
missense |
probably benign |
0.20 |
R5503:Myh2
|
UTSW |
11 |
67173449 |
missense |
probably benign |
|
R5646:Myh2
|
UTSW |
11 |
67188812 |
missense |
probably benign |
0.07 |
R5750:Myh2
|
UTSW |
11 |
67191428 |
missense |
probably benign |
|
R5806:Myh2
|
UTSW |
11 |
67181315 |
missense |
probably damaging |
0.98 |
R5878:Myh2
|
UTSW |
11 |
67192504 |
missense |
probably damaging |
1.00 |
R5892:Myh2
|
UTSW |
11 |
67185176 |
nonsense |
probably null |
|
R5898:Myh2
|
UTSW |
11 |
67192719 |
missense |
possibly damaging |
0.51 |
R6154:Myh2
|
UTSW |
11 |
67186612 |
missense |
probably benign |
|
R6156:Myh2
|
UTSW |
11 |
67181053 |
missense |
probably damaging |
0.98 |
R6236:Myh2
|
UTSW |
11 |
67190331 |
missense |
probably benign |
0.00 |
R6349:Myh2
|
UTSW |
11 |
67193003 |
missense |
probably benign |
0.04 |
R6441:Myh2
|
UTSW |
11 |
67194611 |
missense |
probably benign |
0.00 |
R6548:Myh2
|
UTSW |
11 |
67186612 |
missense |
probably benign |
|
R6681:Myh2
|
UTSW |
11 |
67178348 |
missense |
probably damaging |
1.00 |
R6907:Myh2
|
UTSW |
11 |
67193741 |
missense |
probably damaging |
1.00 |
R6925:Myh2
|
UTSW |
11 |
67193218 |
missense |
probably benign |
0.00 |
R6969:Myh2
|
UTSW |
11 |
67197266 |
missense |
probably benign |
|
R7172:Myh2
|
UTSW |
11 |
67188701 |
missense |
probably benign |
0.00 |
R7257:Myh2
|
UTSW |
11 |
67181150 |
missense |
possibly damaging |
0.70 |
R7286:Myh2
|
UTSW |
11 |
67188369 |
missense |
probably benign |
0.23 |
R7323:Myh2
|
UTSW |
11 |
67197365 |
missense |
probably benign |
|
R7396:Myh2
|
UTSW |
11 |
67194728 |
critical splice donor site |
probably null |
|
R7468:Myh2
|
UTSW |
11 |
67192542 |
missense |
probably benign |
0.01 |
R7585:Myh2
|
UTSW |
11 |
67179411 |
critical splice donor site |
probably null |
|
R7709:Myh2
|
UTSW |
11 |
67194864 |
missense |
probably benign |
0.00 |
R7859:Myh2
|
UTSW |
11 |
67186700 |
missense |
probably damaging |
0.96 |
R7908:Myh2
|
UTSW |
11 |
67197371 |
missense |
probably benign |
|
R8062:Myh2
|
UTSW |
11 |
67193383 |
nonsense |
probably null |
|
R8065:Myh2
|
UTSW |
11 |
67181344 |
missense |
probably null |
0.01 |
R8093:Myh2
|
UTSW |
11 |
67188710 |
missense |
probably damaging |
1.00 |
R8123:Myh2
|
UTSW |
11 |
67173309 |
missense |
probably benign |
|
R8235:Myh2
|
UTSW |
11 |
67192998 |
missense |
probably damaging |
1.00 |
R8512:Myh2
|
UTSW |
11 |
67190361 |
missense |
probably benign |
0.11 |
X0026:Myh2
|
UTSW |
11 |
67175022 |
missense |
probably benign |
0.10 |
X0065:Myh2
|
UTSW |
11 |
67176259 |
missense |
probably damaging |
0.99 |
Z1088:Myh2
|
UTSW |
11 |
67180763 |
critical splice acceptor site |
probably benign |
|
Z1088:Myh2
|
UTSW |
11 |
67191449 |
missense |
probably damaging |
0.98 |
Z1177:Myh2
|
UTSW |
11 |
67176171 |
missense |
possibly damaging |
0.86 |
Z1177:Myh2
|
UTSW |
11 |
67193258 |
missense |
probably damaging |
0.99 |
|
Posted On | 2012-04-20 |