Incidental Mutation 'R4971:Gak'
ID |
384440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gak
|
Ensembl Gene |
ENSMUSG00000062234 |
Gene Name |
cyclin G associated kinase |
Synonyms |
D130045N16Rik |
MMRRC Submission |
042566-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4971 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108744672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 535
(Y535C)
|
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: Y535C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036705 Gene: ENSMUSG00000062234 AA Change: Y535C
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 damaging
Transcript: ENSMUST00000139303
AA Change: Y8C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116862 Gene: ENSMUSG00000062234 AA Change: Y8C
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.7%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
T |
6: 128,524,190 (GRCm39) |
F1147L |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,332,006 (GRCm39) |
S1373P |
probably damaging |
Het |
Abca9 |
A |
T |
11: 110,042,874 (GRCm39) |
S392T |
probably benign |
Het |
Abcd2 |
T |
C |
15: 91,047,313 (GRCm39) |
D580G |
probably benign |
Het |
Actl9 |
T |
A |
17: 33,652,882 (GRCm39) |
L314H |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,255,168 (GRCm39) |
F746L |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Cdkl3 |
T |
C |
11: 51,901,995 (GRCm39) |
V68A |
possibly damaging |
Het |
Cnot1 |
A |
G |
8: 96,448,254 (GRCm39) |
F2266S |
probably damaging |
Het |
Colq |
T |
C |
14: 31,267,034 (GRCm39) |
R159G |
probably damaging |
Het |
Ctse |
A |
T |
1: 131,592,130 (GRCm39) |
D152V |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,970,045 (GRCm39) |
M1011I |
probably benign |
Het |
Cyb5r4 |
G |
T |
9: 86,939,224 (GRCm39) |
V336L |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,131,949 (GRCm39) |
H1619Q |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,818,986 (GRCm39) |
K216E |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,755 (GRCm39) |
H1410L |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,446,604 (GRCm39) |
Y2388C |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,816,222 (GRCm39) |
T3985M |
probably benign |
Het |
Gzmc |
G |
T |
14: 56,469,826 (GRCm39) |
P158Q |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,572,607 (GRCm39) |
Y135H |
probably benign |
Het |
Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
Ing4 |
A |
T |
6: 125,020,961 (GRCm39) |
M28L |
probably benign |
Het |
Irs3 |
T |
A |
5: 137,642,754 (GRCm39) |
D228V |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,555,836 (GRCm39) |
I301N |
probably damaging |
Het |
Kif13b |
T |
A |
14: 64,995,011 (GRCm39) |
M921K |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,515,870 (GRCm39) |
S2658P |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,468,382 (GRCm39) |
|
probably null |
Het |
Map4k5 |
C |
T |
12: 69,899,493 (GRCm39) |
V53I |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,739,827 (GRCm39) |
S3694P |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,548,749 (GRCm39) |
V1038A |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,370,015 (GRCm39) |
V3185A |
possibly damaging |
Het |
Mup5 |
T |
A |
4: 61,751,297 (GRCm39) |
N117I |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,783,023 (GRCm39) |
M179K |
probably damaging |
Het |
Myo1c |
A |
G |
11: 75,562,414 (GRCm39) |
Y902C |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,335,469 (GRCm39) |
I977K |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,081,899 (GRCm39) |
V1240A |
probably benign |
Het |
Nr3c1 |
T |
C |
18: 39,619,930 (GRCm39) |
D119G |
probably damaging |
Het |
Oga |
C |
A |
19: 45,758,485 (GRCm39) |
|
probably null |
Het |
Or4c107 |
A |
T |
2: 88,788,863 (GRCm39) |
N18Y |
probably damaging |
Het |
Pdlim2 |
A |
G |
14: 70,405,208 (GRCm39) |
V219A |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,805 (GRCm39) |
M355L |
probably benign |
Het |
Polr1g |
T |
C |
7: 19,091,487 (GRCm39) |
N207D |
probably benign |
Het |
Prdx1 |
T |
C |
4: 116,549,128 (GRCm39) |
|
probably null |
Het |
Rbfox1 |
C |
T |
16: 7,111,952 (GRCm39) |
R173C |
probably damaging |
Het |
Rbp3 |
T |
A |
14: 33,676,427 (GRCm39) |
V125D |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,227,097 (GRCm39) |
|
probably benign |
Het |
Rhot1 |
T |
A |
11: 80,124,300 (GRCm39) |
I154K |
probably damaging |
Het |
Runx1t1 |
C |
T |
4: 13,837,978 (GRCm39) |
R129C |
probably damaging |
Het |
Setbp1 |
A |
G |
18: 78,901,382 (GRCm39) |
S762P |
probably benign |
Het |
Slc13a3 |
A |
G |
2: 165,290,619 (GRCm39) |
I67T |
probably damaging |
Het |
Tbc1d2b |
A |
T |
9: 90,100,923 (GRCm39) |
M689K |
probably benign |
Het |
Top2a |
T |
C |
11: 98,884,667 (GRCm39) |
Y1517C |
probably damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,849 (GRCm39) |
N109K |
probably damaging |
Het |
Tyk2 |
A |
G |
9: 21,031,797 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 102,096,838 (GRCm39) |
L320* |
probably null |
Het |
Zfp456 |
T |
C |
13: 67,514,995 (GRCm39) |
E237G |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,826,147 (GRCm39) |
E103G |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGTTAGGCACCTGTGGG -3'
(R):5'- CCTTAGCCACACAGATAGTTAGG -3'
Sequencing Primer
(F):5'- AAGCACAGTGATACTAACTTGGC -3'
(R):5'- GCCACACAGATAGTTAGGTTTATAGG -3'
|
Posted On |
2016-04-27 |