Incidental Mutation 'R4890:Gak'
| ID |
377247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
042495-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4890 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 108728742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046603]
[ENSMUST00000135225]
[ENSMUST00000139303]
[ENSMUST00000145467]
[ENSMUST00000199048]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046603
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
| 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 |
noncoding transcript
Transcript: ENSMUST00000199010
|
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
99% (81/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
T |
C |
1: 130,668,725 (GRCm39) |
|
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,260,908 (GRCm39) |
N916S |
probably damaging |
Het |
| Aox1 |
T |
C |
1: 58,373,862 (GRCm39) |
V841A |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,756,383 (GRCm39) |
M983K |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,222,430 (GRCm39) |
F682L |
probably damaging |
Het |
| Ccsap |
T |
G |
8: 124,572,160 (GRCm39) |
E114A |
possibly damaging |
Het |
| Cept1 |
T |
A |
3: 106,413,123 (GRCm39) |
T201S |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,883,476 (GRCm39) |
M232V |
probably benign |
Het |
| Chsy1 |
A |
G |
7: 65,759,974 (GRCm39) |
R106G |
probably benign |
Het |
| Cit |
C |
T |
5: 116,126,182 (GRCm39) |
|
probably benign |
Het |
| Cldn7 |
G |
A |
11: 69,857,918 (GRCm39) |
V42I |
probably benign |
Het |
| Cnnm4 |
T |
A |
1: 36,511,345 (GRCm39) |
V191E |
probably benign |
Het |
| Cntf |
A |
T |
19: 12,741,326 (GRCm39) |
V178D |
possibly damaging |
Het |
| Ctsz |
C |
A |
2: 174,270,393 (GRCm39) |
R263L |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,429,353 (GRCm39) |
M407T |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 38,066,238 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,306,164 (GRCm39) |
I368V |
possibly damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,487,231 (GRCm39) |
V42D |
probably damaging |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Insr |
T |
A |
8: 3,248,234 (GRCm39) |
Q437L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,198,102 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,233,868 (GRCm39) |
C732S |
probably benign |
Het |
| Kdsr |
T |
C |
1: 106,680,964 (GRCm39) |
K78R |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,414,868 (GRCm39) |
S785P |
possibly damaging |
Het |
| Lbr |
C |
A |
1: 181,645,133 (GRCm39) |
L506F |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,342,031 (GRCm39) |
C2720F |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,975 (GRCm39) |
D738N |
probably damaging |
Het |
| Mroh9 |
T |
C |
1: 162,854,093 (GRCm39) |
Y769C |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,274 (GRCm39) |
N515S |
possibly damaging |
Het |
| Myorg |
G |
A |
4: 41,498,877 (GRCm39) |
T251M |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,498,308 (GRCm39) |
S258C |
possibly damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,786 (GRCm39) |
S87T |
possibly damaging |
Het |
| Or52e15 |
G |
A |
7: 104,645,311 (GRCm39) |
H267Y |
probably benign |
Het |
| Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
| Or6c1b |
C |
T |
10: 129,272,948 (GRCm39) |
T89I |
probably benign |
Het |
| Or6z5 |
T |
A |
7: 6,477,848 (GRCm39) |
C246* |
probably null |
Het |
| Or8c15 |
G |
T |
9: 38,120,586 (GRCm39) |
C79F |
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,013,739 (GRCm39) |
|
probably benign |
Het |
| Otud3 |
G |
A |
4: 138,641,060 (GRCm39) |
R27W |
probably damaging |
Het |
| Pcare |
C |
T |
17: 72,059,306 (GRCm39) |
V124I |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,901,290 (GRCm39) |
F707L |
possibly damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,118 (GRCm39) |
E17G |
probably damaging |
Het |
| Pramel19 |
A |
G |
4: 101,798,788 (GRCm39) |
E253G |
probably damaging |
Het |
| Prickle4 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
17: 48,000,806 (GRCm39) |
|
probably benign |
Het |
| Prokr1 |
G |
A |
6: 87,565,678 (GRCm39) |
R56W |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,024,957 (GRCm39) |
C1731Y |
probably damaging |
Het |
| Rbm15b |
A |
T |
9: 106,763,028 (GRCm39) |
F380Y |
possibly damaging |
Het |
| Rfc5 |
G |
A |
5: 117,524,885 (GRCm39) |
L56F |
probably damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,995,577 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
A |
G |
7: 128,354,634 (GRCm39) |
N297D |
probably damaging |
Het |
| Sema3c |
A |
T |
5: 17,880,157 (GRCm39) |
H259L |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,428,328 (GRCm39) |
|
probably benign |
Het |
| Shisal2a |
A |
G |
4: 108,224,998 (GRCm39) |
V188A |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,606 (GRCm39) |
S244C |
probably damaging |
Het |
| Slc39a5 |
T |
C |
10: 128,234,316 (GRCm39) |
I196V |
probably benign |
Het |
| Smim22 |
G |
A |
16: 4,825,722 (GRCm39) |
A36T |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,747,588 (GRCm39) |
I408V |
probably benign |
Het |
| Sult2a5 |
A |
G |
7: 13,359,311 (GRCm39) |
I96V |
probably benign |
Het |
| Tmcc2 |
C |
A |
1: 132,308,517 (GRCm39) |
A126S |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,819,009 (GRCm39) |
S1276T |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,788,103 (GRCm39) |
S843G |
probably benign |
Het |
| Tubd1 |
G |
C |
11: 86,443,621 (GRCm39) |
V110L |
possibly damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,534 (GRCm39) |
V59D |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,697,024 (GRCm39) |
R687G |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,389,142 (GRCm39) |
H131Q |
probably benign |
Het |
| Zbtb42 |
C |
A |
12: 112,646,861 (GRCm39) |
Y345* |
probably null |
Het |
| Zfp612 |
T |
A |
8: 110,816,576 (GRCm39) |
C594* |
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,824 (GRCm39) |
V361A |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCACTCAACAAAGGCTAAAGC -3'
(R):5'- GTCCCCAAGCCATCATGTGAAC -3'
Sequencing Primer
(F):5'- CTCTTATAGCATGTCCCATCAAACAG -3'
(R):5'- TAGAGTAAACCCAAGCCTGCTTTTC -3'
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| Posted On |
2016-03-17 |
Incidental Mutation