Incidental Mutation 'IGL03391:Mark1'
| ID |
421078 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mark1
|
| Ensembl Gene |
ENSMUSG00000026620 |
| Gene Name |
MAP/microtubule affinity regulating kinase 1 |
| Synonyms |
Emk3, B930025N23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
IGL03391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
184628986-184731767 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 184651632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027929]
[ENSMUST00000192657]
|
| AlphaFold |
Q8VHJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027929
|
| SMART Domains |
Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
60 |
311 |
1.12e-108 |
SMART |
|
low complexity region
|
316 |
328 |
N/A |
INTRINSIC |
|
UBA
|
332 |
369 |
4.56e-9 |
SMART |
|
low complexity region
|
376 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
599 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
751 |
795 |
4.5e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192657
|
| SMART Domains |
Protein: ENSMUSP00000142314
Gene: ENSMUSG00000026620
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
152 |
3.8e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192968
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,107 (GRCm39) |
D586G |
probably damaging |
Het |
| Acadvl |
A |
C |
11: 69,901,542 (GRCm39) |
M557R |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,784,802 (GRCm39) |
N327K |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,400,655 (GRCm39) |
D104E |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,668,184 (GRCm39) |
F377S |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 96,030,333 (GRCm39) |
|
probably benign |
Het |
| Dnaaf1 |
C |
T |
8: 120,309,355 (GRCm39) |
R148C |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,882,420 (GRCm39) |
I226F |
possibly damaging |
Het |
| Evl |
C |
A |
12: 108,642,358 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,070,128 (GRCm39) |
E376G |
probably damaging |
Het |
| Gzf1 |
C |
A |
2: 148,525,603 (GRCm39) |
R25S |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,138 (GRCm39) |
Y113* |
probably null |
Het |
| Izumo4 |
A |
G |
10: 80,540,947 (GRCm39) |
T216A |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,185,653 (GRCm39) |
Y1354S |
possibly damaging |
Het |
| Mylpf |
A |
G |
7: 126,812,349 (GRCm39) |
I17V |
probably benign |
Het |
| Myo18b |
C |
A |
5: 113,022,345 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,533,750 (GRCm39) |
A1795V |
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,964,077 (GRCm39) |
|
probably benign |
Het |
| Or2ag15 |
A |
T |
7: 106,340,962 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,483 (GRCm39) |
M272V |
probably benign |
Het |
| Or5w1 |
A |
G |
2: 87,487,032 (GRCm39) |
S78P |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,640 (GRCm39) |
M443V |
probably benign |
Het |
| Psca |
T |
C |
15: 74,586,717 (GRCm39) |
F5S |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,031 (GRCm39) |
Y514* |
probably null |
Het |
| Scg3 |
A |
G |
9: 75,568,533 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
C |
2: 65,594,557 (GRCm39) |
V1802A |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,072 (GRCm39) |
S280P |
possibly damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,291 (GRCm39) |
I352V |
probably damaging |
Het |
| Slc6a2 |
G |
T |
8: 93,688,080 (GRCm39) |
V69L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,740,067 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,717 (GRCm39) |
D818G |
probably damaging |
Het |
| Tnfaip8 |
T |
C |
18: 50,223,552 (GRCm39) |
V120A |
probably damaging |
Het |
| Trmt5 |
G |
A |
12: 73,328,226 (GRCm39) |
H326Y |
probably benign |
Het |
| Vmn1r222 |
T |
C |
13: 23,416,632 (GRCm39) |
M194V |
possibly damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,069 (GRCm39) |
E699G |
probably damaging |
Het |
|
| Other mutations in Mark1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Mark1
|
APN |
1 |
184,630,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00674:Mark1
|
APN |
1 |
184,644,303 (GRCm39) |
missense |
probably benign |
|
|
IGL01903:Mark1
|
APN |
1 |
184,661,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL02004:Mark1
|
APN |
1 |
184,644,786 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03177:Mark1
|
APN |
1 |
184,677,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Mark1
|
APN |
1 |
184,651,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0277:Mark1
|
UTSW |
1 |
184,677,149 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0744:Mark1
|
UTSW |
1 |
184,653,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Mark1
|
UTSW |
1 |
184,653,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Mark1
|
UTSW |
1 |
184,660,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Mark1
|
UTSW |
1 |
184,660,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Mark1
|
UTSW |
1 |
184,651,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2306:Mark1
|
UTSW |
1 |
184,633,058 (GRCm39) |
splice site |
probably benign |
|
|
R3159:Mark1
|
UTSW |
1 |
184,640,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3905:Mark1
|
UTSW |
1 |
184,640,632 (GRCm39) |
splice site |
probably null |
|
|
R4321:Mark1
|
UTSW |
1 |
184,630,871 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4512:Mark1
|
UTSW |
1 |
184,639,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4715:Mark1
|
UTSW |
1 |
184,644,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4829:Mark1
|
UTSW |
1 |
184,637,724 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5163:Mark1
|
UTSW |
1 |
184,637,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5222:Mark1
|
UTSW |
1 |
184,660,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5680:Mark1
|
UTSW |
1 |
184,677,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6582:Mark1
|
UTSW |
1 |
184,644,786 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6943:Mark1
|
UTSW |
1 |
184,630,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Mark1
|
UTSW |
1 |
184,644,825 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7031:Mark1
|
UTSW |
1 |
184,644,829 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7455:Mark1
|
UTSW |
1 |
184,651,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7470:Mark1
|
UTSW |
1 |
184,660,241 (GRCm39) |
nonsense |
probably null |
|
|
R7715:Mark1
|
UTSW |
1 |
184,639,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8193:Mark1
|
UTSW |
1 |
184,660,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8474:Mark1
|
UTSW |
1 |
184,651,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Mark1
|
UTSW |
1 |
184,644,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9336:Mark1
|
UTSW |
1 |
184,648,345 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9366:Mark1
|
UTSW |
1 |
184,653,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Mark1
|
UTSW |
1 |
184,651,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9582:Mark1
|
UTSW |
1 |
184,651,858 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9627:Mark1
|
UTSW |
1 |
184,646,817 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Posted On |
2016-08-02 |
Incidental Mutation