Incidental Mutation 'R2306:Mark1'
| ID |
244578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mark1
|
| Ensembl Gene |
ENSMUSG00000026620 |
| Gene Name |
MAP/microtubule affinity regulating kinase 1 |
| Synonyms |
Emk3, B930025N23Rik |
| MMRRC Submission |
040305-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R2306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
184628986-184731767 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 184633058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027929]
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
G |
A |
17: 43,024,010 (GRCm39) |
H154Y |
possibly damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,862,680 (GRCm39) |
Y501* |
probably null |
Het |
| Atmin |
T |
C |
8: 117,684,389 (GRCm39) |
F683S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,953,379 (GRCm39) |
V403A |
probably damaging |
Het |
| C4b |
T |
G |
17: 34,947,492 (GRCm39) |
M1729L |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,159,224 (GRCm39) |
S2185P |
probably damaging |
Het |
| Crispld2 |
T |
G |
8: 120,752,810 (GRCm39) |
V286G |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,010 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
T |
C |
4: 41,625,239 (GRCm39) |
V401A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Ifitm2 |
T |
A |
7: 140,535,702 (GRCm39) |
T43S |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,207,673 (GRCm39) |
I40V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,432,023 (GRCm39) |
F30C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,633,609 (GRCm39) |
V251D |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,333,057 (GRCm39) |
Y96F |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,811,327 (GRCm39) |
E187G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,684,520 (GRCm39) |
D1183V |
probably damaging |
Het |
| Reln |
T |
G |
5: 22,101,784 (GRCm39) |
D3382A |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,567,243 (GRCm39) |
L271P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,948,455 (GRCm39) |
A600V |
probably benign |
Het |
| Sfr1 |
T |
C |
19: 47,723,291 (GRCm39) |
I265T |
probably damaging |
Het |
| Syt13 |
G |
A |
2: 92,771,312 (GRCm39) |
R133H |
probably benign |
Het |
| Tmem231 |
A |
T |
8: 112,645,503 (GRCm39) |
V132D |
probably damaging |
Het |
| Tmem247 |
C |
A |
17: 87,225,869 (GRCm39) |
A103E |
probably benign |
Het |
| Unc119b |
A |
T |
5: 115,263,534 (GRCm39) |
Y223* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,473 (GRCm39) |
F37L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,895,275 (GRCm39) |
Y3627N |
probably damaging |
Het |
| Zfp292 |
C |
A |
4: 34,809,468 (GRCm39) |
S1192I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTGCATGCTAGGTGAC -3'
(R):5'- ATTGGGAGGTTGTGTTTAAAGCAAC -3'
Sequencing Primer
(F):5'- TCACTGCATGCTAGGTGACATCAG -3'
(R):5'- AGCAACTAACTTTTCCCTTGATAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation