Incidental Mutation 'R4106:Myh1'
| ID |
321399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myh1
|
| Ensembl Gene |
ENSMUSG00000056328 |
| Gene Name |
myosin, heavy polypeptide 1, skeletal muscle, adult |
| Synonyms |
A530084A17Rik, Myhsf2, Myhs-f2, Myhs-f, IId/x, IId, myosin heavy chain 2X, MYHC-IIX, MyHC-IId/x |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67200052-67224575 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67211577 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 898
(V898A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018637]
[ENSMUST00000075734]
[ENSMUST00000124516]
|
| AlphaFold |
Q5SX40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018637
AA Change: V898A
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: V898A
| 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: ENSMUST00000075734
AA Change: V898A
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: V898A
| 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
AA Change: V898A
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: V898A
| 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 |
noncoding transcript
Transcript: ENSMUST00000145021
|
| Meta Mutation Damage Score |
0.0952 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,631,464 |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,601,552 |
F369S |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 84,583,695 |
I1461V |
possibly damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,295,145 |
V107G |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,996,260 |
D397G |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,597,703 |
T183A |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,335,398 |
V92A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 |
|
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,199,450 |
T408A |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,017,478 |
S38P |
possibly damaging |
Het |
| Mapkapk3 |
A |
G |
9: 107,257,066 |
V333A |
probably damaging |
Het |
| Muc5ac |
T |
G |
7: 141,802,835 |
V1053G |
possibly damaging |
Het |
| Nnt |
T |
C |
13: 119,396,791 |
I113V |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,131,646 |
R758G |
possibly damaging |
Het |
| Olfr1166 |
A |
T |
2: 88,124,473 |
C171S |
possibly damaging |
Het |
| Rpl10a |
T |
A |
17: 28,330,959 |
Y205N |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,675,873 |
R3443P |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,495,035 |
I1046T |
probably benign |
Het |
| Sertad4 |
AGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGA |
1: 192,846,742 |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 125,492,308 |
K97E |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,022,957 |
F113Y |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,618,510 |
Q72R |
probably benign |
Het |
| St8sia2 |
A |
C |
7: 73,960,761 |
L258R |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,660,052 |
R245H |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 138,259,944 |
V352A |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,092,586 |
P713L |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,001,457 |
Y293H |
possibly damaging |
Het |
| Ttn |
G |
C |
2: 76,750,871 |
A23226G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,778,465 |
V15990I |
probably benign |
Het |
|
| Other mutations in Myh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Myh1
|
APN |
11 |
67220865 |
missense |
probably damaging |
0.99 |
|
IGL00514:Myh1
|
APN |
11 |
67219784 |
missense |
probably damaging |
1.00 |
|
IGL00851:Myh1
|
APN |
11 |
67217910 |
missense |
probably damaging |
0.96 |
|
IGL01061:Myh1
|
APN |
11 |
67217862 |
missense |
probably benign |
0.05 |
|
IGL01113:Myh1
|
APN |
11 |
67202180 |
missense |
probably benign |
0.00 |
|
IGL01125:Myh1
|
APN |
11 |
67220660 |
missense |
probably benign |
|
|
IGL01391:Myh1
|
APN |
11 |
67217863 |
missense |
probably benign |
0.00 |
|
IGL01392:Myh1
|
APN |
11 |
67221301 |
missense |
probably benign |
0.20 |
|
IGL01404:Myh1
|
APN |
11 |
67222151 |
missense |
possibly damaging |
0.83 |
|
IGL01700:Myh1
|
APN |
11 |
67211412 |
missense |
probably damaging |
1.00 |
|
IGL01739:Myh1
|
APN |
11 |
67214528 |
missense |
probably damaging |
0.99 |
|
IGL01759:Myh1
|
APN |
11 |
67219906 |
missense |
probably damaging |
1.00 |
|
IGL01922:Myh1
|
APN |
11 |
67210466 |
critical splice donor site |
probably null |
|
|
IGL01952:Myh1
|
APN |
11 |
67220392 |
splice site |
probably null |
|
|
IGL02007:Myh1
|
APN |
11 |
67220556 |
missense |
probably benign |
0.03 |
|
IGL02028:Myh1
|
APN |
11 |
67210615 |
missense |
probably damaging |
1.00 |
|
IGL02245:Myh1
|
APN |
11 |
67211487 |
missense |
possibly damaging |
0.58 |
|
IGL02628:Myh1
|
APN |
11 |
67206262 |
unclassified |
probably benign |
|
|
IGL02942:Myh1
|
APN |
11 |
67202482 |
missense |
probably damaging |
1.00 |
|
IGL02967:Myh1
|
APN |
11 |
67209070 |
missense |
possibly damaging |
0.76 |
|
IGL03031:Myh1
|
APN |
11 |
67206387 |
missense |
possibly damaging |
0.47 |
|
IGL03187:Myh1
|
APN |
11 |
67206525 |
missense |
possibly damaging |
0.56 |
|
IGL03302:Myh1
|
APN |
11 |
67211502 |
missense |
probably benign |
0.01 |
|
compelling
|
UTSW |
11 |
67219805 |
critical splice donor site |
probably null |
|
|
convincing
|
UTSW |
11 |
67202539 |
missense |
probably damaging |
1.00 |
|
muscle
|
UTSW |
11 |
67206048 |
nonsense |
probably null |
|
|
Persuasive
|
UTSW |
11 |
67209064 |
missense |
possibly damaging |
0.90 |
|
G1patch:Myh1
|
UTSW |
11 |
67201893 |
missense |
probably damaging |
1.00 |
|
R0041:Myh1
|
UTSW |
11 |
67209078 |
missense |
possibly damaging |
0.88 |
|
R0079:Myh1
|
UTSW |
11 |
67213411 |
missense |
probably damaging |
1.00 |
|
R0081:Myh1
|
UTSW |
11 |
67215857 |
missense |
probably benign |
|
|
R0317:Myh1
|
UTSW |
11 |
67217512 |
missense |
probably damaging |
1.00 |
|
R0465:Myh1
|
UTSW |
11 |
67210417 |
missense |
possibly damaging |
0.50 |
|
R0528:Myh1
|
UTSW |
11 |
67220619 |
missense |
probably damaging |
1.00 |
|
R0731:Myh1
|
UTSW |
11 |
67202533 |
missense |
probably damaging |
0.98 |
|
R0964:Myh1
|
UTSW |
11 |
67205925 |
missense |
probably benign |
|
|
R0964:Myh1
|
UTSW |
11 |
67221604 |
missense |
probably damaging |
1.00 |
|
R1427:Myh1
|
UTSW |
11 |
67219747 |
missense |
probably damaging |
0.99 |
|
R1429:Myh1
|
UTSW |
11 |
67217910 |
missense |
possibly damaging |
0.78 |
|
R1481:Myh1
|
UTSW |
11 |
67205499 |
unclassified |
probably benign |
|
|
R1562:Myh1
|
UTSW |
11 |
67211370 |
missense |
probably benign |
0.04 |
|
R1727:Myh1
|
UTSW |
11 |
67210466 |
critical splice donor site |
probably benign |
|
|
R1796:Myh1
|
UTSW |
11 |
67224357 |
missense |
probably benign |
0.00 |
|
R1808:Myh1
|
UTSW |
11 |
67211474 |
nonsense |
probably null |
|
|
R1836:Myh1
|
UTSW |
11 |
67204822 |
missense |
probably damaging |
0.98 |
|
R1848:Myh1
|
UTSW |
11 |
67213630 |
missense |
probably benign |
0.10 |
|
R1851:Myh1
|
UTSW |
11 |
67204398 |
missense |
probably damaging |
1.00 |
|
R1925:Myh1
|
UTSW |
11 |
67211170 |
missense |
probably benign |
0.01 |
|
R1967:Myh1
|
UTSW |
11 |
67213447 |
missense |
probably benign |
0.08 |
|
R1999:Myh1
|
UTSW |
11 |
67222408 |
missense |
probably benign |
0.04 |
|
R2067:Myh1
|
UTSW |
11 |
67214620 |
missense |
possibly damaging |
0.83 |
|
R2111:Myh1
|
UTSW |
11 |
67214620 |
missense |
possibly damaging |
0.83 |
|
R2150:Myh1
|
UTSW |
11 |
67222408 |
missense |
probably benign |
0.04 |
|
R2189:Myh1
|
UTSW |
11 |
67221604 |
missense |
probably damaging |
1.00 |
|
R2352:Myh1
|
UTSW |
11 |
67220537 |
missense |
probably benign |
0.00 |
|
R2436:Myh1
|
UTSW |
11 |
67213271 |
missense |
probably benign |
0.04 |
|
R2483:Myh1
|
UTSW |
11 |
67211226 |
missense |
probably benign |
|
|
R2508:Myh1
|
UTSW |
11 |
67213598 |
missense |
possibly damaging |
0.61 |
|
R2509:Myh1
|
UTSW |
11 |
67205597 |
missense |
probably benign |
0.01 |
|
R2511:Myh1
|
UTSW |
11 |
67205597 |
missense |
probably benign |
0.01 |
|
R2908:Myh1
|
UTSW |
11 |
67220696 |
nonsense |
probably null |
|
|
R2966:Myh1
|
UTSW |
11 |
67214584 |
missense |
probably damaging |
1.00 |
|
R3829:Myh1
|
UTSW |
11 |
67205597 |
missense |
probably benign |
0.01 |
|
R4108:Myh1
|
UTSW |
11 |
67211577 |
missense |
probably benign |
0.33 |
|
R4457:Myh1
|
UTSW |
11 |
67220615 |
missense |
probably benign |
0.42 |
|
R4629:Myh1
|
UTSW |
11 |
67209293 |
missense |
probably benign |
0.01 |
|
R4981:Myh1
|
UTSW |
11 |
67224474 |
utr 3 prime |
probably benign |
|
|
R5032:Myh1
|
UTSW |
11 |
67206048 |
nonsense |
probably null |
|
|
R5239:Myh1
|
UTSW |
11 |
67215225 |
missense |
probably benign |
0.19 |
|
R5241:Myh1
|
UTSW |
11 |
67204449 |
missense |
probably benign |
|
|
R5303:Myh1
|
UTSW |
11 |
67202017 |
missense |
probably benign |
0.09 |
|
R5666:Myh1
|
UTSW |
11 |
67221352 |
missense |
probably benign |
0.30 |
|
R5717:Myh1
|
UTSW |
11 |
67208956 |
missense |
probably benign |
|
|
R5761:Myh1
|
UTSW |
11 |
67219252 |
missense |
probably damaging |
0.98 |
|
R5870:Myh1
|
UTSW |
11 |
67201979 |
missense |
possibly damaging |
0.70 |
|
R6077:Myh1
|
UTSW |
11 |
67211447 |
missense |
probably damaging |
1.00 |
|
R6089:Myh1
|
UTSW |
11 |
67202167 |
splice site |
probably null |
|
|
R6089:Myh1
|
UTSW |
11 |
67220787 |
splice site |
probably null |
|
|
R6197:Myh1
|
UTSW |
11 |
67220967 |
missense |
probably benign |
0.01 |
|
R6460:Myh1
|
UTSW |
11 |
67221376 |
missense |
probably benign |
|
|
R6627:Myh1
|
UTSW |
11 |
67215009 |
missense |
probably damaging |
1.00 |
|
R6634:Myh1
|
UTSW |
11 |
67209064 |
missense |
possibly damaging |
0.90 |
|
R6725:Myh1
|
UTSW |
11 |
67201893 |
missense |
probably damaging |
1.00 |
|
R6784:Myh1
|
UTSW |
11 |
67214570 |
missense |
probably damaging |
0.99 |
|
R6813:Myh1
|
UTSW |
11 |
67220460 |
missense |
probably benign |
0.34 |
|
R6866:Myh1
|
UTSW |
11 |
67224393 |
missense |
probably damaging |
0.99 |
|
R6997:Myh1
|
UTSW |
11 |
67220637 |
missense |
possibly damaging |
0.94 |
|
R7028:Myh1
|
UTSW |
11 |
67220421 |
missense |
possibly damaging |
0.64 |
|
R7133:Myh1
|
UTSW |
11 |
67202586 |
missense |
probably benign |
|
|
R7185:Myh1
|
UTSW |
11 |
67207459 |
missense |
probably damaging |
1.00 |
|
R7194:Myh1
|
UTSW |
11 |
67211357 |
missense |
probably benign |
|
|
R7283:Myh1
|
UTSW |
11 |
67201844 |
critical splice acceptor site |
probably null |
|
|
R7336:Myh1
|
UTSW |
11 |
67220609 |
missense |
probably benign |
0.00 |
|
R7348:Myh1
|
UTSW |
11 |
67202539 |
missense |
probably damaging |
1.00 |
|
R7369:Myh1
|
UTSW |
11 |
67220698 |
missense |
probably damaging |
1.00 |
|
R7375:Myh1
|
UTSW |
11 |
67210428 |
missense |
probably damaging |
1.00 |
|
R7384:Myh1
|
UTSW |
11 |
67224375 |
missense |
possibly damaging |
0.46 |
|
R7387:Myh1
|
UTSW |
11 |
67208889 |
missense |
probably benign |
0.14 |
|
R7424:Myh1
|
UTSW |
11 |
67213663 |
missense |
probably damaging |
1.00 |
|
R7430:Myh1
|
UTSW |
11 |
67205567 |
nonsense |
probably null |
|
|
R7443:Myh1
|
UTSW |
11 |
67220505 |
missense |
probably benign |
|
|
R7447:Myh1
|
UTSW |
11 |
67219180 |
missense |
probably benign |
0.01 |
|
R7509:Myh1
|
UTSW |
11 |
67210461 |
missense |
probably benign |
0.40 |
|
R7583:Myh1
|
UTSW |
11 |
67220913 |
missense |
probably benign |
0.00 |
|
R7611:Myh1
|
UTSW |
11 |
67210417 |
missense |
possibly damaging |
0.50 |
|
R7617:Myh1
|
UTSW |
11 |
67215875 |
missense |
possibly damaging |
0.94 |
|
R7727:Myh1
|
UTSW |
11 |
67215922 |
missense |
probably benign |
0.00 |
|
R8029:Myh1
|
UTSW |
11 |
67211240 |
critical splice donor site |
probably null |
|
|
R8042:Myh1
|
UTSW |
11 |
67206603 |
missense |
probably damaging |
1.00 |
|
R8060:Myh1
|
UTSW |
11 |
67215251 |
missense |
probably benign |
|
|
R8080:Myh1
|
UTSW |
11 |
67211402 |
missense |
probably benign |
0.10 |
|
R8117:Myh1
|
UTSW |
11 |
67222205 |
missense |
probably damaging |
1.00 |
|
R8171:Myh1
|
UTSW |
11 |
67202572 |
missense |
probably damaging |
1.00 |
|
R8183:Myh1
|
UTSW |
11 |
67202006 |
missense |
possibly damaging |
0.50 |
|
R8397:Myh1
|
UTSW |
11 |
67221639 |
missense |
probably damaging |
0.97 |
|
R8545:Myh1
|
UTSW |
11 |
67202201 |
missense |
probably benign |
0.00 |
|
R8807:Myh1
|
UTSW |
11 |
67220528 |
missense |
probably benign |
0.02 |
|
R8812:Myh1
|
UTSW |
11 |
67209141 |
missense |
probably benign |
0.00 |
|
R8855:Myh1
|
UTSW |
11 |
67211421 |
missense |
probably damaging |
1.00 |
|
R8906:Myh1
|
UTSW |
11 |
67205913 |
missense |
probably benign |
0.02 |
|
R8959:Myh1
|
UTSW |
11 |
67211502 |
missense |
probably benign |
|
|
R8992:Myh1
|
UTSW |
11 |
67205781 |
missense |
probably benign |
|
|
R9140:Myh1
|
UTSW |
11 |
67209263 |
missense |
probably benign |
0.04 |
|
R9293:Myh1
|
UTSW |
11 |
67209103 |
missense |
probably benign |
0.25 |
|
R9366:Myh1
|
UTSW |
11 |
67219288 |
missense |
probably damaging |
1.00 |
|
R9371:Myh1
|
UTSW |
11 |
67219805 |
critical splice donor site |
probably null |
|
|
R9378:Myh1
|
UTSW |
11 |
67202433 |
missense |
probably damaging |
0.99 |
|
R9482:Myh1
|
UTSW |
11 |
67217919 |
missense |
probably damaging |
1.00 |
|
R9507:Myh1
|
UTSW |
11 |
67211223 |
missense |
probably benign |
0.00 |
|
R9558:Myh1
|
UTSW |
11 |
67217792 |
missense |
possibly damaging |
0.90 |
|
R9561:Myh1
|
UTSW |
11 |
67217792 |
missense |
possibly damaging |
0.90 |
|
R9587:Myh1
|
UTSW |
11 |
67211370 |
missense |
probably benign |
0.03 |
|
X0062:Myh1
|
UTSW |
11 |
67207541 |
missense |
probably damaging |
0.99 |
|
Z1177:Myh1
|
UTSW |
11 |
67206318 |
missense |
probably damaging |
1.00 |
|
Z1187:Myh1
|
UTSW |
11 |
67204446 |
missense |
probably benign |
|
|
Z1188:Myh1
|
UTSW |
11 |
67204446 |
missense |
probably benign |
|
|
Z1190:Myh1
|
UTSW |
11 |
67204446 |
missense |
probably benign |
|
|
Z1191:Myh1
|
UTSW |
11 |
67204446 |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCATCCAGTACAACGTC -3'
(R):5'- GGCAACTAAGACTCCTCCTG -3'
Sequencing Primer
(F):5'- GCGCCTTCATGAATGTGAAAC -3'
(R):5'- AAGACTCCTCCTGAACTGATTTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation