Incidental Mutation 'IGL02270:Mylk4'
ID |
287114 |
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 # |
IGL02270
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
32884810-32967937 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 32913049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057428]
[ENSMUST00000230119]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057428
|
SMART Domains |
Protein: ENSMUSP00000060149 Gene: ENSMUSG00000044951
Domain | Start | End | E-Value | Type |
S_TKc
|
107 |
362 |
4.2e-90 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116013 Gene: ENSMUSG00000044951
Domain | Start | End | E-Value | Type |
S_TKc
|
107 |
361 |
1.01e-83 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229922
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230119
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,707,314 (GRCm39) |
|
probably null |
Het |
Bmi1 |
T |
A |
2: 18,689,269 (GRCm39) |
S318T |
probably benign |
Het |
Cntnap5c |
G |
A |
17: 58,341,848 (GRCm39) |
V180I |
probably benign |
Het |
Cyp2b10 |
A |
G |
7: 25,613,362 (GRCm39) |
E186G |
probably damaging |
Het |
Ddx25 |
G |
T |
9: 35,465,708 (GRCm39) |
|
probably benign |
Het |
Dis3 |
A |
G |
14: 99,315,790 (GRCm39) |
F901L |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,512,052 (GRCm39) |
N3003I |
possibly damaging |
Het |
Ebf2 |
A |
G |
14: 67,476,402 (GRCm39) |
D124G |
probably damaging |
Het |
Efcab5 |
A |
T |
11: 76,995,139 (GRCm39) |
I1144N |
probably damaging |
Het |
Exoc4 |
G |
A |
6: 33,556,961 (GRCm39) |
V489I |
possibly damaging |
Het |
Garem1 |
A |
G |
18: 21,281,507 (GRCm39) |
V283A |
probably damaging |
Het |
Gfra2 |
G |
A |
14: 71,163,347 (GRCm39) |
R210H |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,901,371 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
A |
T |
14: 51,759,341 (GRCm39) |
M107L |
probably benign |
Het |
Map2k5 |
A |
T |
9: 63,229,479 (GRCm39) |
|
probably null |
Het |
Mki67 |
C |
T |
7: 135,300,361 (GRCm39) |
D1558N |
probably damaging |
Het |
Or14j9 |
G |
T |
17: 37,874,471 (GRCm39) |
H244N |
possibly damaging |
Het |
Or1e16 |
A |
G |
11: 73,286,191 (GRCm39) |
V219A |
probably benign |
Het |
Or52n5 |
A |
G |
7: 104,588,576 (GRCm39) |
N281S |
possibly damaging |
Het |
Or6a2 |
A |
T |
7: 106,600,630 (GRCm39) |
C146S |
probably damaging |
Het |
Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,823,368 (GRCm39) |
R480G |
probably benign |
Het |
Ripor3 |
T |
C |
2: 167,835,416 (GRCm39) |
E185G |
probably damaging |
Het |
S1pr3 |
T |
C |
13: 51,573,092 (GRCm39) |
I91T |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,728,398 (GRCm39) |
T104A |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,215,357 (GRCm39) |
D419G |
probably damaging |
Het |
St3gal2 |
A |
G |
8: 111,684,398 (GRCm39) |
I19V |
probably benign |
Het |
Sycp1 |
C |
A |
3: 102,803,259 (GRCm39) |
C517F |
probably benign |
Het |
Trav15-1-dv6-1 |
G |
A |
14: 53,797,455 (GRCm39) |
E35K |
possibly damaging |
Het |
Vmn1r121 |
T |
C |
7: 20,832,401 (GRCm39) |
E13G |
probably damaging |
Het |
Vmn1r199 |
T |
A |
13: 22,567,176 (GRCm39) |
S114T |
probably damaging |
Het |
Vmn2r129 |
T |
C |
4: 156,686,950 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2015-04-16 |