Incidental Mutation 'R5163:Mark1'
ID |
397084 |
Institutional Source |
Beutler Lab
|
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 # |
R5163 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
184628986-184731767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 184637807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 594
(I594T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027929]
|
AlphaFold |
Q8VHJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027929
AA Change: I594T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027929 Gene: ENSMUSG00000026620 AA Change: I594T
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGATGATGCCGGTTGAC -3'
(R):5'- GGCATCTCCTCCTTGTATAACG -3'
Sequencing Primer
(F):5'- GTTGACGTGCCCCTTCTGG -3'
(R):5'- CCCATGTACCTCATTTCTAATGTG -3'
|
Posted On |
2016-06-21 |