Incidental Mutation 'R0037:Melk'
ID |
18596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Melk
|
Ensembl Gene |
ENSMUSG00000035683 |
Gene Name |
maternal embryonic leucine zipper kinase |
Synonyms |
MPK38 |
MMRRC Submission |
038331-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0037 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
44300876-44364301 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 44360864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000043806 Gene: ENSMUSG00000035683
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 |
- 1x: 81.5%
- 3x: 73.9%
- 10x: 52.8%
- 20x: 32.9%
|
Validation Efficiency |
94% (83/88) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
A |
8: 111,769,891 (GRCm39) |
R330Q |
possibly damaging |
Het |
Amph |
A |
T |
13: 19,284,823 (GRCm39) |
S250C |
possibly damaging |
Het |
Ankrd61 |
T |
C |
5: 143,831,795 (GRCm39) |
N3S |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,209,630 (GRCm39) |
E621K |
probably damaging |
Het |
Cpt2 |
A |
G |
4: 107,765,171 (GRCm39) |
S152P |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,967,248 (GRCm39) |
Q3205L |
probably damaging |
Het |
Dag1 |
G |
T |
9: 108,084,552 (GRCm39) |
P863Q |
probably damaging |
Het |
Dclk1 |
A |
G |
3: 55,163,480 (GRCm39) |
I191V |
probably benign |
Het |
Ddhd1 |
A |
G |
14: 45,847,967 (GRCm39) |
L567P |
probably damaging |
Het |
Enox1 |
T |
C |
14: 77,936,750 (GRCm39) |
|
probably benign |
Het |
Exoc3 |
T |
C |
13: 74,347,658 (GRCm39) |
E104G |
probably damaging |
Het |
Foxp1 |
T |
A |
6: 99,139,930 (GRCm39) |
Q17L |
probably damaging |
Het |
Fscn1 |
A |
G |
5: 142,956,449 (GRCm39) |
|
probably benign |
Het |
Fut8 |
T |
C |
12: 77,411,811 (GRCm39) |
V91A |
probably benign |
Het |
Gm5475 |
T |
A |
15: 100,322,083 (GRCm39) |
Y77* |
probably null |
Het |
Gm5800 |
T |
C |
14: 51,953,605 (GRCm39) |
|
probably benign |
Het |
Hs2st1 |
T |
A |
3: 144,143,405 (GRCm39) |
K213* |
probably null |
Het |
Il5ra |
T |
A |
6: 106,719,647 (GRCm39) |
Y62F |
probably damaging |
Het |
Inpp5d |
A |
G |
1: 87,635,851 (GRCm39) |
E734G |
probably damaging |
Het |
Insig2 |
A |
T |
1: 121,234,649 (GRCm39) |
C194S |
probably damaging |
Het |
Lemd3 |
A |
C |
10: 120,761,361 (GRCm39) |
H898Q |
possibly damaging |
Het |
Lrp4 |
A |
G |
2: 91,301,548 (GRCm39) |
T43A |
probably benign |
Het |
Mast3 |
C |
T |
8: 71,236,343 (GRCm39) |
|
probably null |
Het |
Myo10 |
C |
T |
15: 25,666,618 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
G |
A |
8: 95,216,163 (GRCm39) |
V967M |
probably benign |
Het |
Nlrp9b |
T |
A |
7: 19,757,647 (GRCm39) |
F295I |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,843,999 (GRCm39) |
D1653E |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,251,827 (GRCm39) |
L449Q |
probably damaging |
Het |
Ppp1r16b |
T |
A |
2: 158,599,129 (GRCm39) |
I367N |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,279,331 (GRCm39) |
L139S |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,052,692 (GRCm39) |
V658A |
probably damaging |
Het |
Son |
C |
A |
16: 91,461,616 (GRCm39) |
A347E |
probably damaging |
Het |
Tprg1l |
C |
A |
4: 154,244,594 (GRCm39) |
V134L |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,934,484 (GRCm39) |
N733I |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
Urb2 |
T |
A |
8: 124,773,934 (GRCm39) |
F1488L |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,634,266 (GRCm39) |
D810G |
probably benign |
Het |
Zfp473 |
T |
A |
7: 44,383,324 (GRCm39) |
K335N |
probably damaging |
Het |
|
Other mutations in Melk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01096:Melk
|
APN |
4 |
44,347,262 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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 |
2013-03-25 |