Incidental Mutation 'R1738:Gak'
| ID |
199857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
039770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1738 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108764842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 153
(Y153C)
|
| 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 damaging
Transcript: ENSMUST00000046603
AA Change: Y153C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: Y153C
| 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 |
noncoding transcript
Transcript: ENSMUST00000145935
|
| 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: 97.5%
- 3x: 96.8%
- 10x: 94.7%
- 20x: 89.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,682,475 (GRCm39) |
Y202C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
T |
G |
5: 81,535,826 (GRCm39) |
M155R |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,211,917 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,326,942 (GRCm39) |
G647D |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,772,820 (GRCm39) |
I291T |
probably benign |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,133 (GRCm39) |
D3307G |
unknown |
Het |
| Cby2 |
C |
T |
14: 75,830,497 (GRCm39) |
M1I |
probably null |
Het |
| Ces2h |
T |
A |
8: 105,745,697 (GRCm39) |
|
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,744,083 (GRCm39) |
E88G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,360,251 (GRCm39) |
D407G |
probably benign |
Het |
| Cpe |
A |
T |
8: 65,064,475 (GRCm39) |
F241L |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,936,493 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,504,034 (GRCm39) |
L179R |
possibly damaging |
Het |
| Dgki |
A |
G |
6: 37,034,367 (GRCm39) |
I361T |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,634,582 (GRCm39) |
V1298A |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,123,895 (GRCm39) |
I430F |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,802,318 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
C |
5: 105,474,510 (GRCm39) |
N389D |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,812,163 (GRCm39) |
V287A |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,732 (GRCm39) |
K36E |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,815,099 (GRCm39) |
|
probably null |
Het |
| Ino80d |
T |
C |
1: 63,132,624 (GRCm39) |
D13G |
probably damaging |
Het |
| Ipp |
G |
A |
4: 116,387,618 (GRCm39) |
V399I |
probably benign |
Het |
| Kank3 |
A |
T |
17: 34,036,168 (GRCm39) |
D12V |
probably damaging |
Het |
| Lcn12 |
A |
T |
2: 25,383,263 (GRCm39) |
S74R |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,237,200 (GRCm39) |
T637A |
probably benign |
Het |
| Nes |
C |
A |
3: 87,883,728 (GRCm39) |
Y662* |
probably null |
Het |
| Nudt13 |
A |
T |
14: 20,359,762 (GRCm39) |
H163L |
probably damaging |
Het |
| Or1j17 |
T |
C |
2: 36,578,797 (GRCm39) |
V261A |
probably benign |
Het |
| Or4a2 |
T |
C |
2: 89,248,362 (GRCm39) |
T132A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,671 (GRCm39) |
V27I |
probably benign |
Het |
| Or8k1 |
A |
T |
2: 86,048,060 (GRCm39) |
|
probably null |
Het |
| Pde6b |
C |
T |
5: 108,578,425 (GRCm39) |
R788* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,599,458 (GRCm39) |
L351P |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,295,525 (GRCm39) |
M942T |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,626,659 (GRCm39) |
D571E |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,125 (GRCm39) |
N470S |
possibly damaging |
Het |
| Primpol |
A |
G |
8: 47,060,873 (GRCm39) |
S82P |
probably damaging |
Het |
| Prkg1 |
T |
C |
19: 30,764,322 (GRCm39) |
D256G |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,374 (GRCm39) |
E2511G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,761,034 (GRCm39) |
I120T |
probably benign |
Het |
| Rfx4 |
G |
A |
10: 84,716,839 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
A |
T |
16: 23,746,423 (GRCm39) |
N69K |
probably benign |
Het |
| Sh3d19 |
A |
T |
3: 86,027,913 (GRCm39) |
I597F |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 42,001,261 (GRCm39) |
E246D |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,187,148 (GRCm39) |
I1094L |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,759,313 (GRCm39) |
H702L |
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,009,788 (GRCm39) |
D47G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,157 (GRCm39) |
Y1415C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,377 (GRCm39) |
F416Y |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,815 (GRCm39) |
S83P |
probably benign |
Het |
| Vtn |
A |
G |
11: 78,390,422 (GRCm39) |
D53G |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,190,723 (GRCm39) |
V456D |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,861,243 (GRCm39) |
P653L |
probably damaging |
Het |
| Ythdf1 |
G |
A |
2: 180,553,285 (GRCm39) |
A283V |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,312,373 (GRCm39) |
W80L |
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 |
|
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 |
|
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'- TGATCAAGCACAAGGGGCACAC -3'
(R):5'- GTCCTACAGGAGTTGAAGGAATGGC -3'
Sequencing Primer
(F):5'- CAAACGAGTAGGGCGCTATC -3'
(R):5'- TGATTGGGTATGCACCCCAAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation