Incidental Mutation 'R2137:Gak'
| ID |
235874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
040140-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2137 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
C |
T |
10: 81,482,143 (GRCm39) |
T88I |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,364,675 (GRCm39) |
V49D |
probably damaging |
Het |
| Bub1b |
G |
T |
2: 118,467,199 (GRCm39) |
E841* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,027,836 (GRCm39) |
N527I |
probably damaging |
Het |
| Cdh22 |
G |
A |
2: 164,958,314 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,550,127 (GRCm39) |
L262P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,797 (GRCm39) |
H120R |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,483,749 (GRCm39) |
S890P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,112,665 (GRCm39) |
E1675G |
probably damaging |
Het |
| Faiml |
G |
A |
9: 99,114,545 (GRCm39) |
P115S |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,915,745 (GRCm39) |
D62V |
possibly damaging |
Het |
| Galntl6 |
C |
T |
8: 58,988,939 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
T |
C |
16: 4,836,346 (GRCm39) |
Y501C |
probably benign |
Het |
| Gm9847 |
G |
T |
12: 14,545,082 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
G |
9: 4,427,026 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Il6st |
C |
A |
13: 112,639,392 (GRCm39) |
H606N |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,866,174 (GRCm39) |
Q189R |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,389 (GRCm39) |
F202L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,989,978 (GRCm39) |
D55E |
probably damaging |
Het |
| Klf1 |
C |
T |
8: 85,629,775 (GRCm39) |
A200V |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,629,275 (GRCm39) |
Y497* |
probably null |
Het |
| Kng2 |
G |
T |
16: 22,816,076 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,577,611 (GRCm39) |
V245A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mss51 |
T |
C |
14: 20,537,591 (GRCm39) |
I47V |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,827,861 (GRCm39) |
T19M |
probably benign |
Het |
| Nampt |
T |
A |
12: 32,880,309 (GRCm39) |
N67K |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,107,776 (GRCm39) |
I1607K |
probably damaging |
Het |
| Nudt4 |
T |
C |
10: 95,399,600 (GRCm39) |
Q7R |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,173 (GRCm39) |
Y130H |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,802 (GRCm39) |
I255N |
probably damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,273,709 (GRCm39) |
M565L |
probably benign |
Het |
| Phactr1 |
T |
G |
13: 43,288,651 (GRCm39) |
F639V |
possibly damaging |
Het |
| Plod3 |
C |
A |
5: 137,017,571 (GRCm39) |
R165S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,193 (GRCm39) |
N164K |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,399,491 (GRCm39) |
G52S |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,468,382 (GRCm39) |
|
probably null |
Het |
| Rheb |
A |
G |
5: 25,012,601 (GRCm39) |
|
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,905,817 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
T |
9: 75,584,092 (GRCm39) |
D136E |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,164,923 (GRCm39) |
L172F |
probably damaging |
Het |
| Slc35c2 |
A |
G |
2: 165,123,299 (GRCm39) |
Y113H |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,235,318 (GRCm39) |
D505V |
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,246,113 (GRCm39) |
D244E |
possibly damaging |
Het |
| Taar1 |
T |
C |
10: 23,797,168 (GRCm39) |
F289L |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,893,568 (GRCm39) |
N871Y |
probably damaging |
Het |
| Tmem108 |
T |
A |
9: 103,377,162 (GRCm39) |
T96S |
possibly damaging |
Het |
| Tnk2 |
G |
T |
16: 32,489,620 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
A |
9: 121,302,028 (GRCm39) |
M928K |
possibly damaging |
Het |
| Tuba3b |
A |
G |
6: 145,564,559 (GRCm39) |
I110V |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,022,281 (GRCm39) |
|
probably benign |
Het |
| Ugt1a9 |
T |
A |
1: 87,998,759 (GRCm39) |
C70S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,410 (GRCm39) |
I68K |
possibly damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,845 (GRCm39) |
E682G |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,778,481 (GRCm39) |
|
probably null |
Het |
| Zfp809 |
T |
C |
9: 22,146,434 (GRCm39) |
V41A |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,547,539 (GRCm39) |
K1574R |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTATCAAGGGGTTGGGC -3'
(R):5'- TATACCCCTCTGCTGGTGAC -3'
Sequencing Primer
(F):5'- TTGGGCAAGTGGGCAACTC -3'
(R):5'- GTCCCTGTTGAGCCTGTGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation