Incidental Mutation 'IGL00495:Vrk3'
| ID |
14820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vrk3
|
| Ensembl Gene |
ENSMUSG00000002205 |
| Gene Name |
vaccinia related kinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00495
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44398049-44426939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44419071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 383
(K383M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002275]
[ENSMUST00000144515]
[ENSMUST00000147952]
|
| AlphaFold |
Q8K3G5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002275
AA Change: K383M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002275
Gene: ENSMUSG00000002205
AA Change: K383M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
212 |
432 |
3.2e-8 |
PFAM |
|
Pfam:Pkinase
|
218 |
432 |
4.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144515
|
| SMART Domains |
Protein: ENSMUSP00000119073
Gene: ENSMUSG00000002205
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-ribbon_3
|
1 |
26 |
1.2e-11 |
PFAM |
|
Pfam:zinc_ribbon_2
|
4 |
26 |
3e-10 |
PFAM |
|
PDB:2JII|B
|
97 |
176 |
3e-36 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147952
|
| SMART Domains |
Protein: ENSMUSP00000130331
Gene: ENSMUSG00000002205
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-ribbon_3
|
1 |
26 |
1.1e-11 |
PFAM |
|
Pfam:zinc_ribbon_2
|
4 |
26 |
2.9e-10 |
PFAM |
|
PDB:2JII|B
|
117 |
162 |
1e-8 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired social behavior, decreased fear and anxiety relate behavior, impaired spatial memory, and abnormal hippocampal dendritic spine and synapse morphologies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
| Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
| Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
| Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
| Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
| Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
| Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
| Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
| Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
| Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
| Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
| Twf1 |
C |
T |
15: 94,478,817 (GRCm39) |
|
probably benign |
Het |
| Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
| Other mutations in Vrk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Vrk3
|
APN |
7 |
44,416,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Vrk3
|
APN |
7 |
44,403,244 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0462:Vrk3
|
UTSW |
7 |
44,413,624 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0831:Vrk3
|
UTSW |
7 |
44,414,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Vrk3
|
UTSW |
7 |
44,417,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2212:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2289:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2915:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3027:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3028:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3416:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3417:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3613:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3877:Vrk3
|
UTSW |
7 |
44,412,460 (GRCm39) |
splice site |
probably null |
|
|
R4357:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4359:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4379:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4381:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4439:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4441:Vrk3
|
UTSW |
7 |
44,424,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4773:Vrk3
|
UTSW |
7 |
44,424,900 (GRCm39) |
missense |
probably benign |
|
|
R5222:Vrk3
|
UTSW |
7 |
44,409,220 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5808:Vrk3
|
UTSW |
7 |
44,409,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6180:Vrk3
|
UTSW |
7 |
44,419,035 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7007:Vrk3
|
UTSW |
7 |
44,407,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7058:Vrk3
|
UTSW |
7 |
44,417,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7425:Vrk3
|
UTSW |
7 |
44,420,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7995:Vrk3
|
UTSW |
7 |
44,413,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Vrk3
|
UTSW |
7 |
44,407,270 (GRCm39) |
nonsense |
probably null |
|
|
R9123:Vrk3
|
UTSW |
7 |
44,407,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9330:Vrk3
|
UTSW |
7 |
44,424,910 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9681:Vrk3
|
UTSW |
7 |
44,403,356 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2012-12-06 |
Incidental Mutation