Incidental Mutation 'R5680:Mark1'
| ID |
442958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mark1
|
| Ensembl Gene |
ENSMUSG00000026620 |
| Gene Name |
MAP/microtubule affinity regulating kinase 1 |
| Synonyms |
Emk3, B930025N23Rik |
| MMRRC Submission |
043177-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R5680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
184628986-184731767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 184677013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 79
(H79R)
|
| 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: H79R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: H79R
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,127,471 (GRCm39) |
F362S |
possibly damaging |
Het |
| Adcy1 |
G |
A |
11: 7,059,020 (GRCm39) |
V309M |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,923,880 (GRCm39) |
K752E |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,792,907 (GRCm39) |
F1383I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Atn1 |
A |
T |
6: 124,724,778 (GRCm39) |
S152T |
possibly damaging |
Het |
| Bcl11a |
G |
A |
11: 24,114,264 (GRCm39) |
V536M |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,290,264 (GRCm39) |
T466A |
probably damaging |
Het |
| Cecr2 |
C |
G |
6: 120,738,387 (GRCm39) |
T1010R |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,814,879 (GRCm39) |
L1318* |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,126,508 (GRCm39) |
V1273A |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,216,219 (GRCm39) |
R106G |
probably damaging |
Het |
| Ggt7 |
A |
T |
2: 155,348,353 (GRCm39) |
C100S |
probably damaging |
Het |
| Grik4 |
A |
T |
9: 42,540,415 (GRCm39) |
M255K |
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,232 (GRCm39) |
S364T |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,799,444 (GRCm39) |
Y70* |
probably null |
Het |
| Mdfic2 |
T |
A |
6: 98,225,187 (GRCm39) |
Q32L |
probably damaging |
Het |
| Myo9b |
T |
G |
8: 71,743,016 (GRCm39) |
S26A |
probably benign |
Het |
| Pa2g4 |
G |
T |
10: 128,395,326 (GRCm39) |
N306K |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,410,166 (GRCm39) |
Y133* |
probably null |
Het |
| Prpf6 |
G |
T |
2: 181,290,933 (GRCm39) |
A675S |
probably damaging |
Het |
| Psca |
A |
G |
15: 74,587,948 (GRCm39) |
D44G |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,453,202 (GRCm39) |
L1231P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,172 (GRCm39) |
S157P |
probably benign |
Het |
| Slc27a2 |
A |
T |
2: 126,403,530 (GRCm39) |
R184S |
probably benign |
Het |
| Tagln2 |
T |
C |
1: 172,333,479 (GRCm39) |
F111S |
probably damaging |
Het |
| Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,790,470 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
G |
A |
17: 71,996,204 (GRCm39) |
R68K |
probably benign |
Het |
| Trim40 |
A |
T |
17: 37,199,874 (GRCm39) |
I68N |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,946,078 (GRCm39) |
M1018V |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,839,884 (GRCm39) |
N322K |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,820,779 (GRCm39) |
T52S |
probably benign |
Het |
| Vmn2r90 |
T |
G |
17: 17,947,034 (GRCm39) |
V437G |
possibly damaging |
Het |
| Vps16 |
C |
A |
2: 130,282,244 (GRCm39) |
H389N |
possibly 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 |
|
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 |
|
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'- AGGGGCCAGTCTTTCCTTAG -3'
(R):5'- CTAGCATACGTCTGTGGATGG -3'
Sequencing Primer
(F):5'- GGTTCATTAGTTCTGCCACAAAACAG -3'
(R):5'- TCTGTGGATGGCTACACTGAAACAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation