Incidental Mutation 'IGL02105:Mylk4'
| ID |
279955 |
| 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 # |
IGL02105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
32884810-32967937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32904545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 427
(E427D)
|
| 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
AA Change: E196D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000060149
Gene: ENSMUSG00000044951
AA Change: E196D
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
107 |
362 |
4.2e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134352
AA Change: E195D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116013
Gene: ENSMUSG00000044951
AA Change: E195D
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
107 |
361 |
1.01e-83 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230119
AA Change: E427D
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
G |
T |
3: 95,587,374 (GRCm39) |
P734H |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,288,590 (GRCm39) |
I14N |
probably damaging |
Het |
| Asap3 |
G |
T |
4: 135,955,785 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,433 (GRCm39) |
|
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,374,296 (GRCm39) |
L248P |
probably damaging |
Het |
| Brd3 |
A |
T |
2: 27,349,788 (GRCm39) |
I255N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,879,921 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,659,116 (GRCm39) |
D25E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,199,651 (GRCm39) |
K1325R |
probably damaging |
Het |
| Dnmt1 |
T |
A |
9: 20,819,178 (GRCm39) |
E1486V |
unknown |
Het |
| Dock2 |
T |
C |
11: 34,605,352 (GRCm39) |
N256D |
probably damaging |
Het |
| Dpp3 |
G |
A |
19: 4,966,799 (GRCm39) |
S408L |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,075,892 (GRCm39) |
G2992R |
probably damaging |
Het |
| Eef1a1 |
T |
C |
9: 78,387,833 (GRCm39) |
D35G |
probably benign |
Het |
| Fntb |
A |
G |
12: 76,909,263 (GRCm39) |
K84E |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,871,588 (GRCm39) |
|
probably null |
Het |
| Glb1l3 |
T |
A |
9: 26,729,823 (GRCm39) |
I516F |
probably damaging |
Het |
| Hltf |
A |
G |
3: 20,146,921 (GRCm39) |
N560S |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,099,041 (GRCm39) |
N1443S |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,902,289 (GRCm39) |
I1330K |
probably benign |
Het |
| Krt20 |
C |
T |
11: 99,328,827 (GRCm39) |
V33M |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,825,640 (GRCm39) |
T487A |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,883,952 (GRCm39) |
E63G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,380,448 (GRCm39) |
V3901A |
probably damaging |
Het |
| Lrrc17 |
A |
G |
5: 21,775,255 (GRCm39) |
I272M |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,132,674 (GRCm39) |
Q1865L |
unknown |
Het |
| Mtg1 |
T |
C |
7: 139,730,119 (GRCm39) |
L305P |
probably damaging |
Het |
| Myom1 |
G |
T |
17: 71,354,711 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,292,660 (GRCm39) |
E1104G |
probably damaging |
Het |
| Obox5 |
A |
G |
7: 15,492,500 (GRCm39) |
M152V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,476 (GRCm39) |
V203M |
probably damaging |
Het |
| Or2l13 |
T |
G |
16: 19,306,011 (GRCm39) |
L141R |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,891 (GRCm39) |
H228L |
possibly damaging |
Het |
| Pf4 |
A |
G |
5: 90,921,114 (GRCm39) |
S105G |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,631,040 (GRCm39) |
I228N |
probably damaging |
Het |
| Sall1 |
T |
G |
8: 89,759,196 (GRCm39) |
S303R |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,094,541 (GRCm39) |
E486G |
probably damaging |
Het |
| Slc9a5 |
C |
T |
8: 106,076,075 (GRCm39) |
P23S |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,040,653 (GRCm39) |
I390N |
probably damaging |
Het |
| Trp53 |
T |
C |
11: 69,479,329 (GRCm39) |
V169A |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,262,131 (GRCm39) |
D791G |
probably damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,417 (GRCm39) |
S266P |
possibly damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,308 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,846,063 (GRCm39) |
G940E |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,580,845 (GRCm39) |
C89* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation