Incidental Mutation 'IGL02072:Vrk1'
| ID |
185842 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vrk1
|
| Ensembl Gene |
ENSMUSG00000021115 |
| Gene Name |
vaccinia related kinase 1 |
| Synonyms |
51PK |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.588)
|
| Stock # |
IGL02072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105976487-106043685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106009144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021539]
[ENSMUST00000072040]
[ENSMUST00000085026]
[ENSMUST00000220629]
[ENSMUST00000221312]
[ENSMUST00000221485]
|
| AlphaFold |
Q80X41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021539
AA Change: V70A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115
AA Change: V70A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
37 |
222 |
4.5e-10 |
PFAM |
|
Pfam:Pkinase
|
37 |
316 |
2.4e-16 |
PFAM |
|
low complexity region
|
354 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072040
AA Change: V70A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115
AA Change: V70A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
37 |
296 |
8.9e-11 |
PFAM |
|
Pfam:Pkinase
|
37 |
323 |
1.9e-19 |
PFAM |
|
low complexity region
|
354 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085026
AA Change: V70A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115
AA Change: V70A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
37 |
323 |
8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
37 |
324 |
3.5e-10 |
PFAM |
|
low complexity region
|
354 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220629
AA Change: V70A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221312
AA Change: V70A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221485
|
| 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. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene trap allele yielding nearly full-length protein levels are fertile and overtly normal. Homozygotes for a hypomorphic gene trap allele are sterile; male infertility is due to progressive loss of proliferating spermatogonia leading to lack of meiotic cells and mature sperm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
| Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
| Eif2s1 |
T |
A |
12: 78,926,788 (GRCm39) |
N179K |
probably benign |
Het |
| Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
| Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,721,031 (GRCm39) |
I110V |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,966,753 (GRCm39) |
D176V |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
| Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,720 (GRCm39) |
L252H |
probably damaging |
Het |
| Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
| Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
| Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
| Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
| Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
| Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
| Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
| Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
| Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
| Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
| Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
| Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
| Upf3a |
A |
C |
8: 13,848,368 (GRCm39) |
Q388P |
probably damaging |
Het |
|
| Other mutations in Vrk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Vrk1
|
APN |
12 |
106,024,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00639:Vrk1
|
APN |
12 |
106,022,175 (GRCm39) |
splice site |
probably null |
|
|
IGL02387:Vrk1
|
APN |
12 |
106,036,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Vrk1
|
APN |
12 |
106,017,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Vrk1
|
APN |
12 |
106,028,912 (GRCm39) |
missense |
probably benign |
|
|
IGL03211:Vrk1
|
APN |
12 |
106,002,847 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0332:Vrk1
|
UTSW |
12 |
106,024,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0790:Vrk1
|
UTSW |
12 |
106,036,883 (GRCm39) |
missense |
probably benign |
|
|
R1897:Vrk1
|
UTSW |
12 |
106,002,799 (GRCm39) |
splice site |
probably benign |
|
|
R1911:Vrk1
|
UTSW |
12 |
106,024,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2289:Vrk1
|
UTSW |
12 |
106,024,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2981:Vrk1
|
UTSW |
12 |
106,018,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Vrk1
|
UTSW |
12 |
106,024,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Vrk1
|
UTSW |
12 |
106,018,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5220:Vrk1
|
UTSW |
12 |
106,039,865 (GRCm39) |
splice site |
probably null |
|
|
R5366:Vrk1
|
UTSW |
12 |
106,022,078 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5499:Vrk1
|
UTSW |
12 |
106,018,024 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6666:Vrk1
|
UTSW |
12 |
106,024,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Vrk1
|
UTSW |
12 |
106,041,291 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8154:Vrk1
|
UTSW |
12 |
106,036,793 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8981:Vrk1
|
UTSW |
12 |
106,036,953 (GRCm39) |
intron |
probably benign |
|
|
R9174:Vrk1
|
UTSW |
12 |
106,002,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9337:Vrk1
|
UTSW |
12 |
106,024,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation