Incidental Mutation 'R2139:Gak'
| ID |
236033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
040142-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 108754743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046603]
[ENSMUST00000135225]
[ENSMUST00000145467]
[ENSMUST00000199048]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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: 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,215,593 (GRCm39) |
F318I |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,074 (GRCm39) |
K221R |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,569,485 (GRCm39) |
M813R |
probably benign |
Het |
| Chaf1a |
T |
C |
17: 56,372,226 (GRCm39) |
L798P |
probably damaging |
Het |
| Chd8 |
G |
A |
14: 52,474,428 (GRCm39) |
T201I |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,464,861 (GRCm39) |
S436P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,163 (GRCm39) |
I440M |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,220,612 (GRCm39) |
D522G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,616,506 (GRCm39) |
M170L |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,567,895 (GRCm39) |
S1441P |
possibly damaging |
Het |
| Efcab3 |
C |
T |
11: 104,642,737 (GRCm39) |
T1120I |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,702 (GRCm39) |
S383T |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,288,303 (GRCm39) |
D94G |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,385,788 (GRCm39) |
V267A |
probably damaging |
Het |
| Esp38 |
T |
A |
17: 40,264,275 (GRCm39) |
I11N |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,468,740 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
A |
T |
5: 137,611,327 (GRCm39) |
S488T |
probably damaging |
Het |
| Fgfr1 |
T |
G |
8: 26,060,882 (GRCm39) |
V618G |
probably damaging |
Het |
| Gpr61 |
A |
T |
3: 108,058,077 (GRCm39) |
C195S |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,555,011 (GRCm39) |
N1686H |
probably damaging |
Het |
| Hapln4 |
T |
C |
8: 70,540,788 (GRCm39) |
F274L |
probably benign |
Het |
| Hoxc10 |
A |
T |
15: 102,875,912 (GRCm39) |
Q207L |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,787,914 (GRCm39) |
V636A |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,905,945 (GRCm39) |
D666G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,371,639 (GRCm39) |
I70F |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,762,548 (GRCm39) |
I112F |
probably damaging |
Het |
| Lrrc8c |
T |
G |
5: 105,754,558 (GRCm39) |
I111S |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,862,753 (GRCm39) |
N600S |
probably damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Mroh5 |
T |
A |
15: 73,661,940 (GRCm39) |
D417V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,632 (GRCm39) |
T276I |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,581,599 (GRCm39) |
I2488N |
unknown |
Het |
| Myrf |
C |
G |
19: 10,193,831 (GRCm39) |
A532P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,996 (GRCm39) |
N427S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,600 (GRCm39) |
S4315G |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,983 (GRCm39) |
D335G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,251,755 (GRCm39) |
L225P |
probably benign |
Het |
| Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
| Or4c104 |
T |
A |
2: 88,586,437 (GRCm39) |
N194I |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,961 (GRCm39) |
I175K |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,145 (GRCm39) |
N282S |
probably damaging |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,139 (GRCm39) |
Y706* |
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,190 (GRCm39) |
S335P |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,393,214 (GRCm39) |
I1850L |
possibly damaging |
Het |
| Pogz |
T |
C |
3: 94,778,318 (GRCm39) |
V304A |
possibly damaging |
Het |
| Rap1a |
T |
C |
3: 105,646,856 (GRCm39) |
I100V |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,194,123 (GRCm39) |
K201M |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,281,022 (GRCm39) |
F8S |
possibly damaging |
Het |
| St18 |
T |
G |
1: 6,880,839 (GRCm39) |
M444R |
possibly damaging |
Het |
| Syna |
G |
T |
5: 134,588,106 (GRCm39) |
S281* |
probably null |
Het |
| Tgm1 |
A |
G |
14: 55,947,000 (GRCm39) |
V336A |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,429,868 (GRCm39) |
T400K |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,348,481 (GRCm39) |
W328R |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,729,721 (GRCm39) |
F193L |
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,410,046 (GRCm39) |
M178K |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r74 |
A |
G |
7: 11,581,243 (GRCm39) |
Y181C |
probably damaging |
Het |
| Vmn2r56 |
T |
A |
7: 12,446,890 (GRCm39) |
K421* |
probably null |
Het |
| Vwa7 |
T |
G |
17: 35,242,406 (GRCm39) |
S503R |
probably benign |
Het |
| Washc5 |
G |
A |
15: 59,221,991 (GRCm39) |
T135M |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,451,322 (GRCm39) |
I854V |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,148 (GRCm39) |
C632R |
probably 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTATCAAGGGGTTGGGC -3'
(R):5'- AGGGGCAGCTCTTTTATACCC -3'
Sequencing Primer
(F):5'- TTGGGCAAGTGGGCAACTC -3'
(R):5'- GTCCCTGTTGAGCCTGTGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation