Incidental Mutation 'R6915:Gak'
| ID |
539273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
045036-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6915 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108750816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 365
(Y365N)
|
| 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: Y365N
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: Y365N
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Adck1 |
C |
A |
12: 88,422,390 (GRCm39) |
L334I |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,551 (GRCm39) |
M436K |
probably benign |
Het |
| Ankmy1 |
A |
C |
1: 92,816,173 (GRCm39) |
F314V |
probably null |
Het |
| Arid5b |
G |
A |
10: 68,022,042 (GRCm39) |
Q183* |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,200,834 (GRCm39) |
L778* |
probably null |
Het |
| BC024139 |
G |
T |
15: 76,004,221 (GRCm39) |
N739K |
probably benign |
Het |
| Carns1 |
T |
G |
19: 4,219,912 (GRCm39) |
H441P |
probably benign |
Het |
| Cby2 |
T |
A |
14: 75,830,098 (GRCm39) |
T32S |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,523 (GRCm39) |
W394R |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,459,153 (GRCm39) |
I693F |
probably benign |
Het |
| Cldn3 |
A |
G |
5: 135,015,426 (GRCm39) |
Q43R |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,796,686 (GRCm39) |
P1608L |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,853,454 (GRCm39) |
Y28F |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,424,512 (GRCm39) |
I269F |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,844,256 (GRCm39) |
I92F |
probably damaging |
Het |
| Dennd4a |
T |
A |
9: 64,759,771 (GRCm39) |
L292* |
probably null |
Het |
| Dhx38 |
T |
C |
8: 110,286,231 (GRCm39) |
E353G |
probably benign |
Het |
| Dnm3 |
T |
C |
1: 162,145,966 (GRCm39) |
|
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,762,488 (GRCm39) |
I794V |
possibly damaging |
Het |
| Eif2b5 |
T |
A |
16: 20,321,500 (GRCm39) |
V351D |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,022,380 (GRCm39) |
V1041E |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,898,388 (GRCm39) |
K869R |
possibly damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,044 (GRCm39) |
V160F |
probably benign |
Het |
| Ghrhr |
T |
A |
6: 55,360,104 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
A |
G |
14: 19,415,933 (GRCm38) |
M202T |
probably benign |
Het |
| Havcr2 |
C |
T |
11: 46,366,738 (GRCm39) |
S177L |
probably benign |
Het |
| Hkdc1 |
G |
C |
10: 62,237,711 (GRCm39) |
R353G |
possibly damaging |
Het |
| Ifi208 |
G |
A |
1: 173,510,444 (GRCm39) |
G200S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lair1 |
A |
T |
7: 4,058,952 (GRCm39) |
V12E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,562,293 (GRCm39) |
N26D |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,900,629 (GRCm39) |
D3168E |
probably benign |
Het |
| Map6 |
G |
A |
7: 98,917,454 (GRCm39) |
A76T |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,843,011 (GRCm39) |
|
probably null |
Het |
| Muc4 |
T |
C |
16: 32,587,312 (GRCm39) |
F2718L |
probably benign |
Het |
| Nek11 |
C |
G |
9: 105,270,256 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,832 (GRCm39) |
E136G |
unknown |
Het |
| Or2z8 |
C |
A |
8: 72,811,574 (GRCm39) |
L17I |
probably benign |
Het |
| Or4d6 |
A |
G |
19: 12,086,490 (GRCm39) |
V140A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,641 (GRCm39) |
E846V |
probably benign |
Het |
| Pcdhga8 |
C |
T |
18: 37,858,998 (GRCm39) |
T18M |
probably benign |
Het |
| Per3 |
T |
C |
4: 151,128,106 (GRCm39) |
M61V |
possibly damaging |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,156,947 (GRCm39) |
Y490C |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 135,789,035 (GRCm39) |
I272F |
possibly damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prkce |
G |
C |
17: 86,800,835 (GRCm39) |
G417A |
probably damaging |
Het |
| Ptar1 |
A |
G |
19: 23,680,501 (GRCm39) |
N106D |
probably damaging |
Het |
| Rbm15 |
C |
A |
3: 107,239,627 (GRCm39) |
R257L |
probably benign |
Het |
| Rptor |
T |
G |
11: 119,647,171 (GRCm39) |
M254R |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,865,257 (GRCm39) |
W350R |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,760,487 (GRCm39) |
Y1532S |
probably damaging |
Het |
| Serpina1a |
C |
A |
12: 103,820,110 (GRCm39) |
V379L |
possibly damaging |
Het |
| Sox8 |
C |
T |
17: 25,786,888 (GRCm39) |
V272I |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,111 (GRCm39) |
H3123Y |
probably benign |
Het |
| Taar9 |
C |
T |
10: 23,984,910 (GRCm39) |
E175K |
possibly damaging |
Het |
| Tinag |
T |
A |
9: 76,908,897 (GRCm39) |
Y348F |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,687 (GRCm39) |
I415T |
probably damaging |
Het |
| Tm7sf2 |
G |
T |
19: 6,118,342 (GRCm39) |
R718S |
probably damaging |
Het |
| Tmem229a |
G |
T |
6: 24,954,657 (GRCm39) |
Q366K |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,286 (GRCm39) |
D297G |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,087,886 (GRCm39) |
F269L |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,512 (GRCm39) |
Y738* |
probably null |
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 |
|
|
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 |
|
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'- TGTAACACTATGTTGGGGAGTCC -3'
(R):5'- TCCAGGTAGAAGCTTGGTCTG -3'
Sequencing Primer
(F):5'- CCCACGCAGGCGAAGAAG -3'
(R):5'- GGTCTGACATGTTTTCACATAGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation