Incidental Mutation 'R6682:Gak'
ID |
527535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gak
|
Ensembl Gene |
ENSMUSG00000062234 |
Gene Name |
cyclin G associated kinase |
Synonyms |
D130045N16Rik |
MMRRC Submission |
044801-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6682 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108746742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 430
(K430I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046603]
[ENSMUST00000135225]
[ENSMUST00000139303]
[ENSMUST00000145467]
[ENSMUST00000199048]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046603
AA Change: K430I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036705 Gene: ENSMUSG00000062234 AA Change: K430I
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
40 |
313 |
1.6e-49 |
PFAM |
Pfam:Pkinase_Tyr
|
40 |
313 |
3e-30 |
PFAM |
PTEN_C2
|
568 |
707 |
1.43e-44 |
SMART |
low complexity region
|
819 |
833 |
N/A |
INTRINSIC |
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1092 |
N/A |
INTRINSIC |
low complexity region
|
1094 |
1110 |
N/A |
INTRINSIC |
DnaJ
|
1240 |
1301 |
2.3e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135225
|
SMART Domains |
Protein: ENSMUSP00000118008 Gene: ENSMUSG00000062234
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
40 |
128 |
7.9e-11 |
PFAM |
Pfam:Pkinase_Tyr
|
40 |
128 |
1.2e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137872
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139303
|
SMART Domains |
Protein: ENSMUSP00000116862 Gene: ENSMUSG00000062234
Domain | Start | End | E-Value | Type |
PTEN_C2
|
41 |
164 |
4.73e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145467
|
SMART Domains |
Protein: ENSMUSP00000118713 Gene: ENSMUSG00000062234
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
40 |
128 |
7.9e-11 |
PFAM |
Pfam:Pkinase_Tyr
|
40 |
128 |
1.2e-6 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196522
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199048
|
SMART Domains |
Protein: ENSMUSP00000142931 Gene: ENSMUSG00000062234
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
PDB:4O38|B
|
23 |
69 |
3e-10 |
PDB |
SCOP:d1koba_
|
41 |
69 |
3e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] PHENOTYPE: Mice homozygous for a deletion of the kinase domain display neonatal lethality with abnormal lung alveolar morphology and development. Mice homozygous for a knock-out allele exhibit lethality during early development. [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 |
Aspm |
T |
C |
1: 139,385,460 (GRCm39) |
V368A |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,412,400 (GRCm39) |
T92A |
possibly damaging |
Het |
Celsr2 |
A |
T |
3: 108,307,817 (GRCm39) |
|
probably null |
Het |
Cndp2 |
T |
C |
18: 84,695,455 (GRCm39) |
K149E |
probably benign |
Het |
Cnpy4 |
T |
C |
5: 138,185,984 (GRCm39) |
|
probably null |
Het |
Cox6c |
A |
T |
15: 35,938,319 (GRCm39) |
|
probably null |
Het |
Cpt2 |
G |
T |
4: 107,761,627 (GRCm39) |
S158R |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 71,094,118 (GRCm39) |
K813R |
probably damaging |
Het |
Dock10 |
A |
C |
1: 80,490,338 (GRCm39) |
L1927R |
probably damaging |
Het |
Grik3 |
T |
A |
4: 125,544,259 (GRCm39) |
Y327N |
probably damaging |
Het |
Ldb3 |
T |
A |
14: 34,274,221 (GRCm39) |
T334S |
possibly damaging |
Het |
Ldlr |
A |
G |
9: 21,643,671 (GRCm39) |
D85G |
probably benign |
Het |
Med26 |
T |
A |
8: 73,249,927 (GRCm39) |
T391S |
probably benign |
Het |
Mmp27 |
A |
G |
9: 7,573,606 (GRCm39) |
T233A |
probably benign |
Het |
Mob1a |
A |
G |
6: 83,311,132 (GRCm39) |
Y117C |
possibly damaging |
Het |
Mrps35 |
A |
T |
6: 146,949,777 (GRCm39) |
E97V |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,971,993 (GRCm39) |
S75T |
probably damaging |
Het |
Myoz1 |
C |
T |
14: 20,703,687 (GRCm39) |
|
probably null |
Het |
Nim1k |
A |
G |
13: 120,173,724 (GRCm39) |
I390T |
probably benign |
Het |
Or10k2 |
A |
G |
8: 84,268,187 (GRCm39) |
H138R |
probably benign |
Het |
Or4k51 |
C |
T |
2: 111,584,980 (GRCm39) |
P129S |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,589,893 (GRCm39) |
Q731P |
unknown |
Het |
Prl3d3 |
G |
A |
13: 27,345,023 (GRCm39) |
E132K |
probably benign |
Het |
Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
Ptpru |
T |
C |
4: 131,548,093 (GRCm39) |
M135V |
probably benign |
Het |
Slc12a9 |
A |
T |
5: 137,325,663 (GRCm39) |
L316Q |
probably damaging |
Het |
Slc35f6 |
G |
A |
5: 30,814,764 (GRCm39) |
M177I |
possibly damaging |
Het |
Smc4 |
T |
A |
3: 68,914,574 (GRCm39) |
S62R |
probably damaging |
Het |
Tmem179 |
C |
T |
12: 112,469,714 (GRCm39) |
D29N |
probably benign |
Het |
Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
Trpc4ap |
C |
T |
2: 155,479,687 (GRCm39) |
|
probably null |
Het |
Trpm8 |
C |
A |
1: 88,254,224 (GRCm39) |
T149K |
probably damaging |
Het |
Uhmk1 |
C |
T |
1: 170,039,804 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
C |
A |
7: 86,653,370 (GRCm39) |
T545K |
possibly damaging |
Het |
Vmn2r95 |
C |
A |
17: 18,660,489 (GRCm39) |
N300K |
probably damaging |
Het |
Wdr41 |
G |
A |
13: 95,149,639 (GRCm39) |
G419D |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,302,130 (GRCm39) |
H597Q |
probably benign |
Het |
Zfp704 |
T |
C |
3: 9,630,253 (GRCm39) |
E36G |
probably benign |
Het |
Zfp9 |
A |
G |
6: 118,444,202 (GRCm39) |
V47A |
possibly damaging |
Het |
|
Other mutations in Gak |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00694:Gak
|
APN |
5 |
108,761,500 (GRCm39) |
makesense |
probably null |
|
IGL00768:Gak
|
APN |
5 |
108,724,520 (GRCm39) |
missense |
probably benign |
|
IGL01128:Gak
|
APN |
5 |
108,740,236 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01557:Gak
|
APN |
5 |
108,732,203 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02559:Gak
|
APN |
5 |
108,732,098 (GRCm39) |
missense |
probably null |
0.07 |
PIT4449001:Gak
|
UTSW |
5 |
108,728,791 (GRCm39) |
missense |
probably benign |
0.00 |
R0030:Gak
|
UTSW |
5 |
108,761,413 (GRCm39) |
nonsense |
probably null |
|
R1403:Gak
|
UTSW |
5 |
108,739,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R1403:Gak
|
UTSW |
5 |
108,739,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R1530:Gak
|
UTSW |
5 |
108,772,059 (GRCm39) |
missense |
probably damaging |
0.97 |
R1646:Gak
|
UTSW |
5 |
108,750,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Gak
|
UTSW |
5 |
108,752,243 (GRCm39) |
nonsense |
probably null |
|
R1702:Gak
|
UTSW |
5 |
108,754,242 (GRCm39) |
splice site |
probably null |
|
R1732:Gak
|
UTSW |
5 |
108,724,448 (GRCm39) |
missense |
probably benign |
0.28 |
R1738:Gak
|
UTSW |
5 |
108,764,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Gak
|
UTSW |
5 |
108,754,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Gak
|
UTSW |
5 |
108,733,397 (GRCm39) |
nonsense |
probably null |
|
R2068:Gak
|
UTSW |
5 |
108,718,091 (GRCm39) |
missense |
probably benign |
|
R2137:Gak
|
UTSW |
5 |
108,754,743 (GRCm39) |
splice site |
probably null |
|
R2138:Gak
|
UTSW |
5 |
108,754,743 (GRCm39) |
splice site |
probably null |
|
R2139:Gak
|
UTSW |
5 |
108,754,743 (GRCm39) |
splice site |
probably null |
|
R2904:Gak
|
UTSW |
5 |
108,772,080 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3080:Gak
|
UTSW |
5 |
108,761,468 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3773:Gak
|
UTSW |
5 |
108,730,538 (GRCm39) |
missense |
probably benign |
0.00 |
R4523:Gak
|
UTSW |
5 |
108,724,432 (GRCm39) |
missense |
probably benign |
0.22 |
R4665:Gak
|
UTSW |
5 |
108,730,826 (GRCm39) |
missense |
probably benign |
|
R4703:Gak
|
UTSW |
5 |
108,717,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R4890:Gak
|
UTSW |
5 |
108,728,742 (GRCm39) |
unclassified |
probably benign |
|
R4951:Gak
|
UTSW |
5 |
108,730,584 (GRCm39) |
missense |
probably benign |
|
R4971:Gak
|
UTSW |
5 |
108,744,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Gak
|
UTSW |
5 |
108,764,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5436:Gak
|
UTSW |
5 |
108,740,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5496:Gak
|
UTSW |
5 |
108,724,483 (GRCm39) |
missense |
probably benign |
0.00 |
R6207:Gak
|
UTSW |
5 |
108,772,895 (GRCm39) |
critical splice donor site |
probably null |
|
R6359:Gak
|
UTSW |
5 |
108,719,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R6468:Gak
|
UTSW |
5 |
108,771,202 (GRCm39) |
nonsense |
probably null |
|
R6915:Gak
|
UTSW |
5 |
108,750,816 (GRCm39) |
missense |
probably benign |
0.20 |
R7403:Gak
|
UTSW |
5 |
108,761,401 (GRCm39) |
missense |
probably benign |
0.00 |
R7458:Gak
|
UTSW |
5 |
108,730,940 (GRCm39) |
missense |
probably benign |
0.00 |
R7522:Gak
|
UTSW |
5 |
108,739,065 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7650:Gak
|
UTSW |
5 |
108,732,161 (GRCm39) |
missense |
probably benign |
0.00 |
R7737:Gak
|
UTSW |
5 |
108,764,874 (GRCm39) |
missense |
probably benign |
0.15 |
R8437:Gak
|
UTSW |
5 |
108,757,272 (GRCm39) |
missense |
probably benign |
0.30 |
R8739:Gak
|
UTSW |
5 |
108,739,604 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8954:Gak
|
UTSW |
5 |
108,777,518 (GRCm39) |
start gained |
probably benign |
|
X0064:Gak
|
UTSW |
5 |
108,761,399 (GRCm39) |
nonsense |
probably null |
|
Z1177:Gak
|
UTSW |
5 |
108,733,218 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGCTCCATCACTTAAAACTG -3'
(R):5'- TCTCCCAGACATCTGTAGTTAAC -3'
Sequencing Primer
(F):5'- CTGTACTTAAGTGGGGAAAATGGCTC -3'
(R):5'- GAAGAGCCTATGTTTGGC -3'
|
Posted On |
2018-07-23 |