Incidental Mutation 'IGL02559:Gak'
| ID |
298632 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108732098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 797
(E797K)
|
| 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 null
Transcript: ENSMUST00000046603
AA Change: E797K
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: E797K
| 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 |
probably benign
Transcript: ENSMUST00000156110
|
| SMART Domains |
Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTEN_C2
|
4 |
59 |
9.5e-14 |
PFAM |
|
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
413 |
N/A |
INTRINSIC |
|
DnaJ
|
543 |
604 |
2.3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196010
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200204
|
| Coding Region Coverage |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,881,653 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
| Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
| Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
| Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
| Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
| H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,087,944 (GRCm39) |
F8S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
A |
G |
14: 96,389,396 (GRCm39) |
V586A |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
| Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
| Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
| Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
| Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
| Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,867,514 (GRCm39) |
V473D |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
| Srgap2 |
A |
C |
1: 131,452,674 (GRCm39) |
|
probably null |
Het |
| Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
| Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
| Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
| Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
probably damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,515 (GRCm39) |
K26E |
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 |
|
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 |
|
|
R6682:Gak
|
UTSW |
5 |
108,746,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation