Incidental Mutation 'IGL03177:Mark1'
ID |
412027 |
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: 0.351)
|
Stock # |
IGL03177
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
184628986-184731767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 184677104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 49
(S49P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027929]
[ENSMUST00000192657]
|
AlphaFold |
Q8VHJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027929
AA Change: S49P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027929 Gene: ENSMUSG00000026620 AA Change: S49P
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
Mdfic |
T |
C |
6: 15,770,450 (GRCm39) |
V152A |
probably damaging |
Het |
Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
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 |
IGL03189:Mark1
|
APN |
1 |
184,651,890 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03391:Mark1
|
APN |
1 |
184,651,632 (GRCm39) |
unclassified |
probably benign |
|
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 |