Incidental Mutation 'R4523:Gak'
| ID |
334302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
042004-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4523 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108724432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1093
(Q1093K)
|
| 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 benign
Transcript: ENSMUST00000046603
AA Change: Q1093K
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: Q1093K
| 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 |
noncoding transcript
Transcript: ENSMUST00000133745
|
| 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 |
unknown
Transcript: ENSMUST00000156110
AA Change: Q395K
|
| SMART Domains |
Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: Q395K
| 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 |
|
| Meta Mutation Damage Score |
0.0714 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
G |
T |
5: 67,824,943 (GRCm39) |
T796K |
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,916 (GRCm39) |
S78P |
probably damaging |
Het |
| Calb2 |
C |
T |
8: 110,875,141 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdca7 |
A |
G |
2: 72,310,042 (GRCm39) |
S77G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
| Cnot2 |
C |
T |
10: 116,417,379 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
A |
19: 31,060,482 (GRCm39) |
V6D |
possibly damaging |
Het |
| Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,314,085 (GRCm39) |
I852V |
probably damaging |
Het |
| Dmgdh |
C |
T |
13: 93,825,138 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,491,979 (GRCm39) |
F1138S |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,598,915 (GRCm39) |
A998T |
possibly damaging |
Het |
| Dusp5 |
T |
G |
19: 53,526,032 (GRCm39) |
Y225D |
probably damaging |
Het |
| Fam193a |
G |
A |
5: 34,600,715 (GRCm39) |
D601N |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,715,277 (GRCm39) |
K115R |
probably benign |
Het |
| Gm5277 |
G |
T |
3: 78,799,493 (GRCm39) |
|
noncoding transcript |
Het |
| Hgsnat |
A |
G |
8: 26,458,389 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,120 (GRCm39) |
T410A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,523,048 (GRCm39) |
M338V |
probably benign |
Het |
| Map3k3 |
G |
A |
11: 106,039,694 (GRCm39) |
R278H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,154 (GRCm39) |
|
probably benign |
Het |
| Nectin3 |
C |
A |
16: 46,268,953 (GRCm39) |
R483L |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,791 (GRCm39) |
I474T |
probably benign |
Het |
| Optc |
G |
T |
1: 133,831,492 (GRCm39) |
T138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,525 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k22 |
C |
G |
2: 86,163,644 (GRCm39) |
D19H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pard3 |
C |
T |
8: 128,125,108 (GRCm39) |
P421S |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,653,474 (GRCm39) |
E647D |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,006 (GRCm39) |
|
probably benign |
Het |
| Prkce |
G |
T |
17: 86,798,178 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,697,947 (GRCm39) |
D656G |
unknown |
Het |
| Ptprk |
A |
T |
10: 28,342,048 (GRCm39) |
D485V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,839,620 (GRCm39) |
L381P |
probably damaging |
Het |
| Rnf144b |
T |
C |
13: 47,361,013 (GRCm39) |
I51T |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,711 (GRCm39) |
V118E |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,219,163 (GRCm39) |
G58D |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 75,984,196 (GRCm39) |
A46V |
probably damaging |
Het |
| Spmip8 |
T |
A |
8: 96,039,638 (GRCm39) |
Y18* |
probably null |
Het |
| Tgm7 |
C |
A |
2: 120,929,069 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
G |
17: 46,569,718 (GRCm39) |
V424A |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,773,864 (GRCm39) |
I414F |
probably damaging |
Het |
| Tsr3 |
C |
G |
17: 25,460,723 (GRCm39) |
D196E |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,941,409 (GRCm39) |
D68G |
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 |
|
|
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 |
|
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'- TGGAATTAGCTAGGACAGATACTGC -3'
(R):5'- TACCAAACCTTGAGTGGGGC -3'
Sequencing Primer
(F):5'- TTAGCTAGGACAGATACTGCATGGTC -3'
(R):5'- CAAACCTTGAGTGGGGCCTTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation