Incidental Mutation 'IGL03142:Mylk4'
ID |
410737 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mylk4
|
Ensembl Gene |
ENSMUSG00000044951 |
Gene Name |
myosin light chain kinase family, member 4 |
Synonyms |
EG238564 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03142
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
32884810-32967937 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32904582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 415
(V415E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057428]
[ENSMUST00000230119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057428
AA Change: V184E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060149 Gene: ENSMUSG00000044951 AA Change: V184E
Domain | Start | End | E-Value | Type |
S_TKc
|
107 |
362 |
4.2e-90 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134352
AA Change: V183E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116013 Gene: ENSMUSG00000044951 AA Change: V183E
Domain | Start | End | E-Value | Type |
S_TKc
|
107 |
361 |
1.01e-83 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230119
AA Change: V415E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc88c |
T |
C |
12: 100,913,457 (GRCm39) |
S523G |
probably damaging |
Het |
Ccnb1 |
A |
T |
13: 100,920,039 (GRCm39) |
D157E |
probably damaging |
Het |
Cep43 |
T |
A |
17: 8,411,041 (GRCm39) |
S331R |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,447,283 (GRCm39) |
T1055A |
probably damaging |
Het |
Fn1 |
C |
A |
1: 71,676,455 (GRCm39) |
R592L |
probably damaging |
Het |
Frmpd4 |
T |
A |
X: 166,262,479 (GRCm39) |
D550V |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,711 (GRCm39) |
V346A |
probably benign |
Het |
Gm10112 |
C |
T |
X: 110,209,673 (GRCm39) |
T4I |
probably damaging |
Het |
Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
Has2 |
A |
T |
15: 56,545,491 (GRCm39) |
I37N |
possibly damaging |
Het |
Hmgn3 |
A |
G |
9: 83,028,482 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,187,603 (GRCm39) |
N254Y |
probably damaging |
Het |
Kti12 |
A |
G |
4: 108,705,362 (GRCm39) |
Y92C |
probably damaging |
Het |
Lyset |
G |
A |
12: 102,710,933 (GRCm39) |
S52N |
probably damaging |
Het |
Mgat5 |
A |
C |
1: 127,339,960 (GRCm39) |
Q447P |
probably damaging |
Het |
Mlh3 |
C |
A |
12: 85,297,075 (GRCm39) |
|
probably null |
Het |
Mrpl45 |
T |
C |
11: 97,206,751 (GRCm39) |
W18R |
probably benign |
Het |
Mtor |
A |
G |
4: 148,538,356 (GRCm39) |
D138G |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,536,212 (GRCm39) |
C246Y |
probably damaging |
Het |
Olfm3 |
A |
T |
3: 114,890,679 (GRCm39) |
Q124L |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,752 (GRCm39) |
M118K |
probably damaging |
Het |
Pam |
C |
T |
1: 97,822,111 (GRCm39) |
G298R |
probably damaging |
Het |
Pappa2 |
A |
C |
1: 158,682,501 (GRCm39) |
I849R |
probably damaging |
Het |
Pde3a |
T |
A |
6: 141,438,025 (GRCm39) |
D1031E |
probably benign |
Het |
Pik3cb |
A |
T |
9: 98,947,615 (GRCm39) |
S521T |
probably benign |
Het |
Pkn1 |
A |
G |
8: 84,397,652 (GRCm39) |
F824L |
possibly damaging |
Het |
Pspn |
C |
T |
17: 57,306,566 (GRCm39) |
R121Q |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,578,380 (GRCm39) |
D1195G |
possibly damaging |
Het |
Sin3b |
A |
G |
8: 73,471,196 (GRCm39) |
D381G |
probably damaging |
Het |
Slc37a3 |
T |
C |
6: 39,336,919 (GRCm39) |
|
probably null |
Het |
Smtn |
T |
A |
11: 3,482,601 (GRCm39) |
K124* |
probably null |
Het |
Tbce |
A |
G |
13: 14,194,449 (GRCm39) |
V70A |
possibly damaging |
Het |
Tti1 |
A |
G |
2: 157,842,597 (GRCm39) |
Y811H |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,235,603 (GRCm39) |
Y1424C |
probably damaging |
Het |
Upf1 |
A |
G |
8: 70,785,977 (GRCm39) |
V994A |
probably benign |
Het |
Vmn2r121 |
T |
C |
X: 123,042,635 (GRCm39) |
D174G |
possibly damaging |
Het |
|
Other mutations in Mylk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Mylk4
|
APN |
13 |
32,899,905 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01799:Mylk4
|
APN |
13 |
32,965,674 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01985:Mylk4
|
APN |
13 |
32,901,564 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02105:Mylk4
|
APN |
13 |
32,904,545 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02270:Mylk4
|
APN |
13 |
32,913,049 (GRCm39) |
splice site |
probably benign |
|
IGL02377:Mylk4
|
APN |
13 |
32,906,130 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0550:Mylk4
|
UTSW |
13 |
32,900,649 (GRCm39) |
missense |
probably benign |
0.00 |
R0599:Mylk4
|
UTSW |
13 |
32,896,737 (GRCm39) |
splice site |
probably null |
|
R1070:Mylk4
|
UTSW |
13 |
32,908,801 (GRCm39) |
missense |
probably benign |
0.05 |
R1520:Mylk4
|
UTSW |
13 |
32,896,821 (GRCm39) |
splice site |
probably null |
|
R1658:Mylk4
|
UTSW |
13 |
32,896,772 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1917:Mylk4
|
UTSW |
13 |
32,908,836 (GRCm39) |
missense |
probably benign |
0.00 |
R1918:Mylk4
|
UTSW |
13 |
32,908,836 (GRCm39) |
missense |
probably benign |
0.00 |
R1919:Mylk4
|
UTSW |
13 |
32,908,836 (GRCm39) |
missense |
probably benign |
0.00 |
R2187:Mylk4
|
UTSW |
13 |
32,905,996 (GRCm39) |
missense |
probably damaging |
0.97 |
R2568:Mylk4
|
UTSW |
13 |
32,906,001 (GRCm39) |
missense |
probably null |
0.97 |
R4832:Mylk4
|
UTSW |
13 |
32,905,960 (GRCm39) |
missense |
probably benign |
0.04 |
R5268:Mylk4
|
UTSW |
13 |
32,892,864 (GRCm39) |
splice site |
probably null |
|
R6801:Mylk4
|
UTSW |
13 |
32,912,393 (GRCm39) |
missense |
probably benign |
0.07 |
R6894:Mylk4
|
UTSW |
13 |
32,905,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7302:Mylk4
|
UTSW |
13 |
32,904,548 (GRCm39) |
missense |
probably benign |
0.39 |
R7329:Mylk4
|
UTSW |
13 |
32,900,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R7634:Mylk4
|
UTSW |
13 |
32,892,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7702:Mylk4
|
UTSW |
13 |
32,904,585 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7944:Mylk4
|
UTSW |
13 |
32,911,096 (GRCm39) |
missense |
probably benign |
0.02 |
R8256:Mylk4
|
UTSW |
13 |
32,904,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Mylk4
|
UTSW |
13 |
32,913,089 (GRCm39) |
missense |
probably benign |
0.00 |
R8777-TAIL:Mylk4
|
UTSW |
13 |
32,913,089 (GRCm39) |
missense |
probably benign |
0.00 |
R9367:Mylk4
|
UTSW |
13 |
32,960,236 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9509:Mylk4
|
UTSW |
13 |
32,904,543 (GRCm39) |
missense |
probably benign |
0.07 |
R9794:Mylk4
|
UTSW |
13 |
32,899,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Mylk4
|
UTSW |
13 |
32,900,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |