Incidental Mutation 'R6582:Mark1'
| ID |
524129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mark1
|
| Ensembl Gene |
ENSMUSG00000026620 |
| Gene Name |
MAP/microtubule affinity regulating kinase 1 |
| Synonyms |
Emk3, B930025N23Rik |
| MMRRC Submission |
044706-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.351)
|
| Stock # |
R6582 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
184628986-184731767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 184644786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 390
(S390L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027929]
|
| AlphaFold |
Q8VHJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027929
AA Change: S390L
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: S390L
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
| Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
| Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
| Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
| Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
| Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
| Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
| Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
| Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
| Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
| Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
| Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
| Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
| Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
| Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
| Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
| Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
| Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
|
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 |
|
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'- CTATGATCGGTCAGTCACCCAG -3'
(R):5'- ATCCCGTGTTTGAGGCAATGG -3'
Sequencing Primer
(F):5'- AGCGATGCCCGTCTGAGAAG -3'
(R):5'- GGTTAGACAAGTAACCTGGTGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation