Incidental Mutation 'IGL01096:Melk'
ID |
50890 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Melk
|
Ensembl Gene |
ENSMUSG00000035683 |
Gene Name |
maternal embryonic leucine zipper kinase |
Synonyms |
MPK38 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01096
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
44300876-44364301 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44347262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 431
(F431I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045607]
|
AlphaFold |
Q61846 |
PDB Structure |
The crystal structure of mouse PK38 [X-RAY DIFFRACTION]
The crystal structure of MPK38 in complex with OTSSP167, an orally- administrative MELK selective inhibitor [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045607
AA Change: F431I
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000043806 Gene: ENSMUSG00000035683 AA Change: F431I
Domain | Start | End | E-Value | Type |
S_TKc
|
11 |
263 |
2.64e-105 |
SMART |
low complexity region
|
313 |
325 |
N/A |
INTRINSIC |
Pfam:KA1
|
599 |
643 |
2.2e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an allele that produces a kinase-dead protein exhibit altered pancreatic regeneration following injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
Alk |
T |
C |
17: 72,228,891 (GRCm39) |
K725E |
possibly damaging |
Het |
Castor1 |
A |
C |
11: 4,171,850 (GRCm39) |
E309A |
probably damaging |
Het |
Dspp |
T |
A |
5: 104,323,233 (GRCm39) |
H125Q |
possibly damaging |
Het |
Elmo2 |
A |
T |
2: 165,138,907 (GRCm39) |
|
probably benign |
Het |
Erg |
A |
G |
16: 95,190,912 (GRCm39) |
|
probably benign |
Het |
Fam20c |
A |
G |
5: 138,794,910 (GRCm39) |
E513G |
possibly damaging |
Het |
Gm9839 |
G |
T |
1: 32,559,917 (GRCm39) |
T55N |
possibly damaging |
Het |
Gpd2 |
A |
T |
2: 57,228,879 (GRCm39) |
M228L |
probably damaging |
Het |
Hp |
A |
T |
8: 110,302,033 (GRCm39) |
M305K |
probably benign |
Het |
Ifng |
T |
A |
10: 118,281,174 (GRCm39) |
|
probably benign |
Het |
Igkv9-123 |
T |
C |
6: 67,931,449 (GRCm39) |
D39G |
possibly damaging |
Het |
Or10ak12 |
A |
G |
4: 118,666,653 (GRCm39) |
V136A |
probably damaging |
Het |
Or12j5 |
A |
T |
7: 140,084,097 (GRCm39) |
S92T |
probably damaging |
Het |
Or4p19 |
A |
G |
2: 88,242,135 (GRCm39) |
M289T |
probably damaging |
Het |
Or51k1 |
A |
C |
7: 103,661,321 (GRCm39) |
L196W |
probably damaging |
Het |
Or8g27 |
G |
A |
9: 39,129,412 (GRCm39) |
G253D |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,107,553 (GRCm39) |
Y655H |
probably damaging |
Het |
Prss58 |
A |
T |
6: 40,872,399 (GRCm39) |
I208N |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,718,430 (GRCm39) |
I2720F |
probably damaging |
Het |
Slc13a1 |
G |
T |
6: 24,104,076 (GRCm39) |
T322K |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,970,691 (GRCm39) |
F1292L |
probably benign |
Het |
Tbx5 |
A |
G |
5: 120,021,091 (GRCm39) |
T366A |
probably benign |
Het |
Tmeff2 |
G |
A |
1: 50,969,705 (GRCm39) |
|
probably benign |
Het |
Tmem101 |
C |
A |
11: 102,045,378 (GRCm39) |
|
probably null |
Het |
Tpp2 |
C |
A |
1: 44,000,048 (GRCm39) |
P389T |
probably damaging |
Het |
Tyk2 |
A |
G |
9: 21,020,159 (GRCm39) |
Y1000H |
probably damaging |
Het |
Ush2a |
C |
A |
1: 188,410,574 (GRCm39) |
N2407K |
probably damaging |
Het |
Vmn1r94 |
C |
T |
7: 19,901,561 (GRCm39) |
V248I |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,234,125 (GRCm39) |
I696F |
probably damaging |
Het |
Vmn2r83 |
A |
G |
10: 79,313,662 (GRCm39) |
E90G |
probably damaging |
Het |
Washc5 |
T |
C |
15: 59,222,060 (GRCm39) |
|
probably benign |
Het |
Wee2 |
A |
G |
6: 40,440,187 (GRCm39) |
E445G |
probably benign |
Het |
Zfp518b |
T |
C |
5: 38,830,131 (GRCm39) |
T625A |
probably benign |
Het |
|
Other mutations in Melk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01367:Melk
|
APN |
4 |
44,332,907 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01865:Melk
|
APN |
4 |
44,344,988 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02801:Melk
|
APN |
4 |
44,360,930 (GRCm39) |
missense |
probably damaging |
0.99 |
R0037:Melk
|
UTSW |
4 |
44,360,864 (GRCm39) |
splice site |
probably benign |
|
R0433:Melk
|
UTSW |
4 |
44,340,614 (GRCm39) |
splice site |
probably benign |
|
R0570:Melk
|
UTSW |
4 |
44,308,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Melk
|
UTSW |
4 |
44,303,649 (GRCm39) |
missense |
unknown |
|
R1483:Melk
|
UTSW |
4 |
44,308,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R2042:Melk
|
UTSW |
4 |
44,309,051 (GRCm39) |
critical splice donor site |
probably null |
|
R3831:Melk
|
UTSW |
4 |
44,345,021 (GRCm39) |
missense |
probably benign |
0.05 |
R5060:Melk
|
UTSW |
4 |
44,350,959 (GRCm39) |
missense |
probably benign |
0.15 |
R5236:Melk
|
UTSW |
4 |
44,344,959 (GRCm39) |
missense |
probably benign |
|
R5269:Melk
|
UTSW |
4 |
44,363,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5357:Melk
|
UTSW |
4 |
44,363,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5358:Melk
|
UTSW |
4 |
44,363,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5360:Melk
|
UTSW |
4 |
44,363,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5430:Melk
|
UTSW |
4 |
44,309,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Melk
|
UTSW |
4 |
44,312,255 (GRCm39) |
missense |
probably null |
1.00 |
R5656:Melk
|
UTSW |
4 |
44,312,237 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5738:Melk
|
UTSW |
4 |
44,310,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R5972:Melk
|
UTSW |
4 |
44,351,007 (GRCm39) |
missense |
probably benign |
0.01 |
R6265:Melk
|
UTSW |
4 |
44,318,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R6340:Melk
|
UTSW |
4 |
44,340,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R7202:Melk
|
UTSW |
4 |
44,351,106 (GRCm39) |
missense |
probably benign |
|
R7242:Melk
|
UTSW |
4 |
44,360,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R7328:Melk
|
UTSW |
4 |
44,332,931 (GRCm39) |
missense |
probably benign |
|
R7608:Melk
|
UTSW |
4 |
44,325,571 (GRCm39) |
splice site |
probably null |
|
R8053:Melk
|
UTSW |
4 |
44,318,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R8185:Melk
|
UTSW |
4 |
44,360,965 (GRCm39) |
missense |
probably benign |
0.14 |
R8356:Melk
|
UTSW |
4 |
44,312,191 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8456:Melk
|
UTSW |
4 |
44,312,191 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9365:Melk
|
UTSW |
4 |
44,340,693 (GRCm39) |
missense |
probably null |
|
R9749:Melk
|
UTSW |
4 |
44,307,067 (GRCm39) |
missense |
possibly damaging |
0.63 |
X0020:Melk
|
UTSW |
4 |
44,349,876 (GRCm39) |
missense |
probably benign |
0.28 |
|
Posted On |
2013-06-21 |