Incidental Mutation 'R8185:Melk'
| ID |
634808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Melk
|
| Ensembl Gene |
ENSMUSG00000035683 |
| Gene Name |
maternal embryonic leucine zipper kinase |
| Synonyms |
MPK38 |
| MMRRC Submission |
067608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8185 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
44300876-44364301 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44360965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 582
(V582I)
|
| 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: V582I
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: V582I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,011 (GRCm39) |
V256A |
possibly damaging |
Het |
| Ackr3 |
G |
A |
1: 90,141,666 (GRCm39) |
V42M |
probably benign |
Het |
| C9 |
T |
A |
15: 6,520,878 (GRCm39) |
I441N |
probably damaging |
Het |
| Cd44 |
G |
A |
2: 102,654,665 (GRCm39) |
A667V |
possibly damaging |
Het |
| Cdc23 |
T |
C |
18: 34,774,197 (GRCm39) |
N322D |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,824 (GRCm39) |
N227S |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,487,979 (GRCm39) |
R559Q |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,391,897 (GRCm39) |
N121D |
probably damaging |
Het |
| Cog7 |
A |
G |
7: 121,576,969 (GRCm39) |
L63P |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,854,168 (GRCm39) |
A285V |
probably benign |
Het |
| Cpsf7 |
C |
T |
19: 10,514,224 (GRCm39) |
R343* |
probably null |
Het |
| Cubn |
T |
G |
2: 13,299,129 (GRCm39) |
K3181N |
probably benign |
Het |
| Dsg1a |
C |
T |
18: 20,473,669 (GRCm39) |
T914I |
probably damaging |
Het |
| Ebf3 |
A |
T |
7: 136,827,607 (GRCm39) |
C255S |
possibly damaging |
Het |
| Eif1ad5 |
T |
A |
12: 87,940,433 (GRCm39) |
W46R |
noncoding transcript |
Het |
| Fasn |
A |
T |
11: 120,702,969 (GRCm39) |
I1658N |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,794,020 (GRCm39) |
V210A |
probably damaging |
Het |
| Flvcr1 |
G |
A |
1: 190,747,681 (GRCm39) |
P305S |
probably damaging |
Het |
| Frem3 |
G |
T |
8: 81,338,933 (GRCm39) |
E409* |
probably null |
Het |
| Gabrr2 |
T |
A |
4: 33,082,330 (GRCm39) |
D213E |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,040 (GRCm39) |
D418E |
possibly damaging |
Het |
| Immt |
C |
T |
6: 71,849,835 (GRCm39) |
Q530* |
probably null |
Het |
| Ints10 |
T |
C |
8: 69,249,370 (GRCm39) |
F67L |
possibly damaging |
Het |
| Kdm4c |
C |
T |
4: 74,291,821 (GRCm39) |
H813Y |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,313,471 (GRCm39) |
M395K |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,426,332 (GRCm39) |
I49T |
probably damaging |
Het |
| Lmln |
A |
T |
16: 32,909,690 (GRCm39) |
N357I |
probably damaging |
Het |
| Lpar1 |
A |
T |
4: 58,486,509 (GRCm39) |
M254K |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,894 (GRCm39) |
V554A |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,573,492 (GRCm39) |
T195A |
unknown |
Het |
| Nedd4l |
T |
C |
18: 65,342,769 (GRCm39) |
F781L |
probably damaging |
Het |
| Nvl |
G |
A |
1: 180,971,739 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,304,509 (GRCm39) |
D199N |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,542 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,542 (GRCm39) |
D160G |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,106,863 (GRCm39) |
P453S |
probably benign |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,873 (GRCm39) |
G373S |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,151,842 (GRCm39) |
S46P |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,679,014 (GRCm38) |
I63V |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,667 (GRCm39) |
V305A |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,398,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,163 (GRCm39) |
N118I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGATGAAGCCAGTCTCCC -3'
(R):5'- TGGTGACCATGAGTGTTCTC -3'
Sequencing Primer
(F):5'- CTGCTGTGCTAATGCGGC -3'
(R):5'- CTCAGCTCATAAGATAATCAGCATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation