Incidental Mutation 'R6340:Melk'
| ID |
513871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Melk
|
| Ensembl Gene |
ENSMUSG00000035683 |
| Gene Name |
maternal embryonic leucine zipper kinase |
| Synonyms |
MPK38 |
| MMRRC Submission |
044494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6340 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
44300876-44364301 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44340633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 310
(Y310C)
|
| 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 damaging
Transcript: ENSMUST00000045607
AA Change: Y310C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: Y310C
| 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 |
|
| Meta Mutation Damage Score |
0.6925 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
C |
T |
1: 34,771,304 (GRCm39) |
L1204F |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,822,115 (GRCm39) |
D495G |
probably benign |
Het |
| B020011L13Rik |
G |
A |
1: 117,729,614 (GRCm39) |
V374I |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,449 (GRCm39) |
V214D |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,773 (GRCm39) |
V573A |
probably damaging |
Het |
| Elmo3 |
T |
A |
8: 106,033,379 (GRCm39) |
I115N |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,874 (GRCm39) |
Y564N |
probably damaging |
Het |
| Fam180a |
A |
C |
6: 35,292,322 (GRCm39) |
L28R |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Fnip2 |
A |
G |
3: 79,415,152 (GRCm39) |
F243L |
probably damaging |
Het |
| Gabra5 |
A |
T |
7: 57,063,496 (GRCm39) |
N309K |
probably damaging |
Het |
| Gm17654 |
A |
G |
14: 43,815,534 (GRCm39) |
L91P |
unknown |
Het |
| Gm19684 |
G |
A |
17: 36,438,402 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
A |
T |
14: 118,504,669 (GRCm39) |
M34L |
unknown |
Het |
| Hmgcr |
A |
G |
13: 96,802,366 (GRCm39) |
F106S |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,081,574 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,191,393 (GRCm39) |
Y5H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,829,336 (GRCm39) |
T77A |
probably benign |
Het |
| Il20 |
A |
G |
1: 130,836,118 (GRCm39) |
Y142H |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,342,042 (GRCm39) |
D2160E |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,789,949 (GRCm39) |
V454M |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,790,124 (GRCm39) |
N395K |
probably benign |
Het |
| Mnt |
A |
G |
11: 74,727,242 (GRCm39) |
K43E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,335,616 (GRCm39) |
I853T |
probably damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,370,032 (GRCm39) |
T37A |
probably benign |
Het |
| Or8d1b |
T |
G |
9: 38,887,062 (GRCm39) |
L30R |
probably damaging |
Het |
| Pdia4 |
A |
G |
6: 47,777,952 (GRCm39) |
S347P |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,794,649 (GRCm39) |
Q1837H |
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,623,877 (GRCm39) |
N99S |
possibly damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,711 (GRCm39) |
N299K |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,725 (GRCm39) |
V52E |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,994,517 (GRCm39) |
I305N |
probably damaging |
Het |
| Trav14-1 |
T |
C |
14: 53,791,955 (GRCm39) |
S102P |
probably damaging |
Het |
| Tsga10 |
C |
A |
1: 37,874,266 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,347,711 (GRCm39) |
H837Q |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,727 (GRCm39) |
R575S |
probably benign |
Het |
| Yae1d1 |
C |
A |
13: 18,167,861 (GRCm39) |
A11S |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,368,548 (GRCm39) |
I459T |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTTTCTGTGCAGGGC -3'
(R):5'- TGCATCTGGCTTACTCATACTG -3'
Sequencing Primer
(F):5'- CAGGGCAGTTTTAGGTGTGCAG -3'
(R):5'- GCTTACTCATACTGGCGGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation