Incidental Mutation 'R3828:Mark4'
| ID |
273841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mark4
|
| Ensembl Gene |
ENSMUSG00000030397 |
| Gene Name |
MAP/microtubule affinity regulating kinase 4 |
| Synonyms |
2410090P21Rik, Markl1 |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19158700-19192746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19177112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 239
(I239T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085715]
[ENSMUST00000209058]
|
| AlphaFold |
Q8CIP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085715
AA Change: I239T
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: I239T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
59 |
310 |
1.4e-109 |
SMART |
|
UBA
|
331 |
368 |
9.62e-8 |
SMART |
|
low complexity region
|
391 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
690 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
709 |
752 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209011
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209058
|
| Meta Mutation Damage Score |
0.6733 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit insulin hypersensitivity and resistance to diet-induced obersity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
Het |
|
| Other mutations in Mark4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Mark4
|
APN |
7 |
19,165,749 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02321:Mark4
|
APN |
7 |
19,160,314 (GRCm39) |
missense |
probably benign |
|
|
IGL02813:Mark4
|
APN |
7 |
19,181,181 (GRCm39) |
splice site |
probably null |
|
|
IGL03088:Mark4
|
APN |
7 |
19,185,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
breakfast
|
UTSW |
7 |
19,177,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3828_Mark4_841
|
UTSW |
7 |
19,177,112 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Towncar
|
UTSW |
7 |
19,181,168 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0555:Mark4
|
UTSW |
7 |
19,182,598 (GRCm39) |
splice site |
probably benign |
|
|
R1278:Mark4
|
UTSW |
7 |
19,165,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1385:Mark4
|
UTSW |
7 |
19,159,952 (GRCm39) |
splice site |
probably null |
|
|
R3415:Mark4
|
UTSW |
7 |
19,185,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4281:Mark4
|
UTSW |
7 |
19,167,371 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4682:Mark4
|
UTSW |
7 |
19,179,097 (GRCm39) |
splice site |
probably null |
|
|
R4791:Mark4
|
UTSW |
7 |
19,185,582 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5184:Mark4
|
UTSW |
7 |
19,181,168 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5319:Mark4
|
UTSW |
7 |
19,170,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5330:Mark4
|
UTSW |
7 |
19,170,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Mark4
|
UTSW |
7 |
19,163,532 (GRCm39) |
splice site |
probably null |
|
|
R5811:Mark4
|
UTSW |
7 |
19,182,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Mark4
|
UTSW |
7 |
19,160,310 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6148:Mark4
|
UTSW |
7 |
19,163,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6333:Mark4
|
UTSW |
7 |
19,177,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6698:Mark4
|
UTSW |
7 |
19,163,362 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7265:Mark4
|
UTSW |
7 |
19,185,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Mark4
|
UTSW |
7 |
19,160,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:Mark4
|
UTSW |
7 |
19,177,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Mark4
|
UTSW |
7 |
19,181,164 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9321:Mark4
|
UTSW |
7 |
19,170,901 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9610:Mark4
|
UTSW |
7 |
19,167,338 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9611:Mark4
|
UTSW |
7 |
19,167,338 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9649:Mark4
|
UTSW |
7 |
19,160,015 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGCAGGTCAATATTAGAGC -3'
(R):5'- AGGCTGAAAACCTGTTGCTG -3'
Sequencing Primer
(F):5'- CCAGCTGTTCAGCTCACAG -3'
(R):5'- AAAACCTGTTGCTGGATGCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation