Incidental Mutation 'IGL01985:Mylk4'
| ID |
181854 |
| 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 # |
IGL01985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
32884810-32967937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32901564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 475
(I475L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057428]
[ENSMUST00000230119]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057428
AA Change: I244L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060149
Gene: ENSMUSG00000044951
AA Change: I244L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
107 |
362 |
4.2e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134352
AA Change: I243L
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116013
Gene: ENSMUSG00000044951
AA Change: I243L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
107 |
361 |
1.01e-83 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230119
AA Change: I475L
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,442,024 (GRCm39) |
Q76* |
probably null |
Het |
| Cass4 |
A |
C |
2: 172,269,126 (GRCm39) |
S403R |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,175,052 (GRCm39) |
Y540* |
probably null |
Het |
| Cep164 |
C |
T |
9: 45,690,904 (GRCm39) |
E1266K |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,359,334 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,482 (GRCm39) |
K510R |
unknown |
Het |
| Crisp4 |
G |
A |
1: 18,204,289 (GRCm39) |
P101S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,884,074 (GRCm39) |
L614P |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,603,303 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,911,614 (GRCm39) |
F589L |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,899,119 (GRCm39) |
V459E |
probably damaging |
Het |
| E2f6 |
T |
C |
12: 16,869,064 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
C |
9: 53,287,869 (GRCm39) |
L1650P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,535,324 (GRCm39) |
Y691C |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,889,173 (GRCm39) |
T44A |
probably benign |
Het |
| Gm28044 |
T |
A |
13: 67,495,958 (GRCm39) |
K28* |
probably null |
Het |
| Il12b |
G |
A |
11: 44,298,881 (GRCm39) |
W112* |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,263,802 (GRCm39) |
T621A |
probably damaging |
Het |
| Irx5 |
T |
A |
8: 93,086,155 (GRCm39) |
|
probably benign |
Het |
| Jmy |
T |
C |
13: 93,596,144 (GRCm39) |
H495R |
possibly damaging |
Het |
| Kif21a |
A |
T |
15: 90,875,970 (GRCm39) |
V321D |
probably damaging |
Het |
| Lrrc10 |
T |
A |
10: 116,881,921 (GRCm39) |
D198E |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,103 (GRCm39) |
E651G |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,519,931 (GRCm39) |
V230A |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,493,013 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,442 (GRCm39) |
V196E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,414,844 (GRCm39) |
V399M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,244 (GRCm39) |
E711K |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,570,296 (GRCm39) |
K38E |
probably damaging |
Het |
| Ror1 |
G |
A |
4: 100,283,161 (GRCm39) |
V409M |
possibly damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,111,853 (GRCm39) |
V140D |
probably benign |
Het |
| Srebf2 |
G |
T |
15: 82,076,560 (GRCm39) |
A737S |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,663,721 (GRCm39) |
T303A |
unknown |
Het |
| Tmem74 |
A |
T |
15: 43,730,476 (GRCm39) |
I189N |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,746,607 (GRCm39) |
D1242G |
possibly damaging |
Het |
| U2surp |
A |
T |
9: 95,372,279 (GRCm39) |
F293L |
probably damaging |
Het |
| Uchl5 |
G |
A |
1: 143,661,864 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,402,565 (GRCm39) |
C2472S |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,700,940 (GRCm39) |
R1028W |
probably damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,125 (GRCm39) |
S60P |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,397,510 (GRCm39) |
D249E |
probably benign |
Het |
| Vnn1 |
C |
T |
10: 23,776,642 (GRCm39) |
T331I |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 126,994,541 (GRCm39) |
V232F |
probably 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 |
|
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 |
2014-05-07 |
Incidental Mutation