Incidental Mutation 'IGL00970:Mylk4'
ID |
28893 |
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 # |
IGL00970
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
32884810-32967937 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32899905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 326
(E326G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057428]
[ENSMUST00000230119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057428
AA Change: E327G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000060149 Gene: ENSMUSG00000044951 AA Change: E327G
Domain | Start | End | E-Value | Type |
S_TKc
|
107 |
362 |
4.2e-90 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134352
AA Change: E326G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116013 Gene: ENSMUSG00000044951 AA Change: E326G
Domain | Start | End | E-Value | Type |
S_TKc
|
107 |
361 |
1.01e-83 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230119
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,144,149 (GRCm39) |
N910K |
possibly damaging |
Het |
Atp8b5 |
A |
G |
4: 43,311,938 (GRCm39) |
T184A |
probably benign |
Het |
Cabp7 |
T |
C |
11: 4,688,931 (GRCm39) |
I180V |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,646,182 (GRCm39) |
T1752A |
probably benign |
Het |
Dgkb |
T |
C |
12: 38,240,082 (GRCm39) |
L453P |
probably damaging |
Het |
Disp2 |
A |
C |
2: 118,622,274 (GRCm39) |
D1002A |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,158,180 (GRCm39) |
P259S |
probably benign |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,109 (GRCm39) |
D169G |
probably damaging |
Het |
Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
Fhod1 |
C |
A |
8: 106,058,734 (GRCm39) |
V745L |
possibly damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,822 (GRCm39) |
E495G |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,453,104 (GRCm39) |
I247T |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,830,812 (GRCm39) |
|
probably benign |
Het |
Hoatz |
T |
A |
9: 50,994,886 (GRCm39) |
K148* |
probably null |
Het |
Hspg2 |
C |
A |
4: 137,269,901 (GRCm39) |
Q2311K |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,222,107 (GRCm39) |
Y400C |
probably benign |
Het |
Lct |
A |
T |
1: 128,231,805 (GRCm39) |
D681E |
probably damaging |
Het |
Lgalsl |
G |
T |
11: 20,776,493 (GRCm39) |
P133Q |
probably benign |
Het |
Man2b2 |
C |
T |
5: 36,973,487 (GRCm39) |
W76* |
probably null |
Het |
Odam |
T |
G |
5: 88,034,467 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,180,608 (GRCm39) |
I110T |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,215,172 (GRCm39) |
D47V |
probably damaging |
Het |
Plekhg4 |
C |
T |
8: 106,105,067 (GRCm39) |
R577C |
probably benign |
Het |
Pnpo |
C |
A |
11: 96,834,618 (GRCm39) |
C26F |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,101,493 (GRCm39) |
I1071M |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,014 (GRCm39) |
D124G |
probably benign |
Het |
Rexo1 |
C |
T |
10: 80,386,798 (GRCm39) |
V87I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,693,934 (GRCm39) |
V1502L |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,078,994 (GRCm39) |
L50P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,595,021 (GRCm39) |
K2534E |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,691,595 (GRCm39) |
H229R |
possibly damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,438 (GRCm39) |
D237G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,662 (GRCm39) |
S1785P |
possibly damaging |
Het |
Slc11a1 |
A |
G |
1: 74,419,821 (GRCm39) |
T165A |
probably damaging |
Het |
Star |
G |
A |
8: 26,302,894 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,653,152 (GRCm39) |
N575Y |
probably damaging |
Het |
Unc5d |
T |
C |
8: 29,186,456 (GRCm39) |
T598A |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,893 (GRCm39) |
Q232L |
probably damaging |
Het |
Wdr31 |
T |
C |
4: 62,375,757 (GRCm39) |
T233A |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,806,071 (GRCm39) |
R2669Q |
probably benign |
Het |
|
Other mutations in Mylk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03142:Mylk4
|
APN |
13 |
32,904,582 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |