Incidental Mutation 'IGL01865:Melk'
ID |
178470 |
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 # |
IGL01865
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
44300876-44364301 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44344988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 373
(C373S)
|
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: C373S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000043806 Gene: ENSMUSG00000035683 AA Change: C373S
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,836,107 (GRCm39) |
H162R |
probably damaging |
Het |
Adamts10 |
T |
A |
17: 33,772,140 (GRCm39) |
M1096K |
probably damaging |
Het |
Asap3 |
G |
T |
4: 135,963,715 (GRCm39) |
C325F |
probably damaging |
Het |
Atm |
T |
C |
9: 53,372,302 (GRCm39) |
E2160G |
probably damaging |
Het |
Col4a1 |
G |
A |
8: 11,251,790 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
C |
T |
18: 80,499,199 (GRCm39) |
G248S |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,088 (GRCm39) |
D679E |
probably benign |
Het |
Efcab2 |
C |
A |
1: 178,303,253 (GRCm39) |
Y91* |
probably null |
Het |
Eif3d |
G |
T |
15: 77,851,546 (GRCm39) |
T88K |
probably benign |
Het |
Gapvd1 |
G |
A |
2: 34,585,515 (GRCm39) |
A1049V |
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm18856 |
T |
A |
13: 14,139,508 (GRCm39) |
|
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm9991 |
A |
G |
1: 90,606,635 (GRCm39) |
|
noncoding transcript |
Het |
Hapln1 |
T |
C |
13: 89,749,784 (GRCm39) |
Y110H |
probably damaging |
Het |
Htr1f |
A |
G |
16: 64,746,282 (GRCm39) |
Y337H |
probably damaging |
Het |
Kirrel1 |
T |
A |
3: 86,993,731 (GRCm39) |
S509C |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,131,923 (GRCm39) |
R138* |
probably null |
Het |
Lypla1 |
A |
C |
1: 4,907,259 (GRCm39) |
I108L |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,090,975 (GRCm39) |
N66D |
probably damaging |
Het |
Myocd |
C |
A |
11: 65,091,723 (GRCm39) |
S73I |
probably benign |
Het |
Nell2 |
A |
G |
15: 95,282,962 (GRCm39) |
V360A |
possibly damaging |
Het |
Npas4 |
G |
A |
19: 5,035,819 (GRCm39) |
Q782* |
probably null |
Het |
Or7a36 |
A |
T |
10: 78,820,512 (GRCm39) |
D296V |
possibly damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,077 (GRCm39) |
K1108E |
possibly damaging |
Het |
Per2 |
A |
G |
1: 91,349,239 (GRCm39) |
I1044T |
probably benign |
Het |
Pgm3 |
A |
G |
9: 86,437,371 (GRCm39) |
F501S |
possibly damaging |
Het |
Ppp1r3c |
A |
G |
19: 36,711,578 (GRCm39) |
V64A |
probably benign |
Het |
Ptpn6 |
A |
T |
6: 124,709,428 (GRCm39) |
I15N |
probably damaging |
Het |
Pxk |
T |
C |
14: 8,136,923 (GRCm38) |
V148A |
possibly damaging |
Het |
Rngtt |
T |
A |
4: 33,325,157 (GRCm39) |
|
probably benign |
Het |
Rtkn2 |
T |
G |
10: 67,871,705 (GRCm39) |
S364R |
probably benign |
Het |
Rtn1 |
A |
C |
12: 72,266,074 (GRCm39) |
L167R |
probably damaging |
Het |
Sp2 |
G |
A |
11: 96,851,868 (GRCm39) |
T352I |
probably damaging |
Het |
Tbc1d17 |
A |
G |
7: 44,492,113 (GRCm39) |
M459T |
possibly damaging |
Het |
Tbcd |
T |
A |
11: 121,481,206 (GRCm39) |
M694K |
possibly damaging |
Het |
Tln2 |
G |
A |
9: 67,157,896 (GRCm39) |
R1148* |
probably null |
Het |
Trim27 |
T |
C |
13: 21,376,662 (GRCm39) |
V294A |
probably damaging |
Het |
Tspyl5 |
G |
T |
15: 33,687,858 (GRCm39) |
A29E |
unknown |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vrk2 |
C |
T |
11: 26,485,560 (GRCm39) |
V143I |
possibly damaging |
Het |
Zfp952 |
G |
A |
17: 33,221,791 (GRCm39) |
R52Q |
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,699,774 (GRCm39) |
D55E |
probably benign |
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 |
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 |
2014-05-07 |