Incidental Mutation 'R7458:Gak'
| ID |
578243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
045532-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108730940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 822
(D822G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046603]
[ENSMUST00000135225]
[ENSMUST00000139303]
[ENSMUST00000145467]
[ENSMUST00000199048]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046603
AA Change: D822G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: D822G
| 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: ENSMUST00000139303
|
| SMART Domains |
Protein: ENSMUSP00000116862
Gene: ENSMUSG00000062234
| Domain | Start | End | E-Value | Type |
|---|
|
PTEN_C2
|
41 |
164 |
4.73e-27 |
SMART |
|
| 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: ENSMUST00000156110
AA Change: D124G
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: D124G
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200204
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,338,510 (GRCm39) |
V501M |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,240,777 (GRCm39) |
F880S |
possibly damaging |
Het |
| AI182371 |
T |
A |
2: 34,976,516 (GRCm39) |
R206S |
possibly damaging |
Het |
| Akr1a1 |
A |
T |
4: 116,495,014 (GRCm39) |
M286K |
possibly damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,492 (GRCm39) |
E406G |
possibly damaging |
Het |
| Ambra1 |
T |
A |
2: 91,748,029 (GRCm39) |
V1255D |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,598,604 (GRCm39) |
T23I |
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,196 (GRCm39) |
Y711C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,307,119 (GRCm39) |
E1034G |
|
Het |
| Bricd5 |
T |
C |
17: 24,693,476 (GRCm39) |
I39T |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,800,096 (GRCm39) |
T163A |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,436,978 (GRCm39) |
V72A |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,263,779 (GRCm39) |
D199G |
probably damaging |
Het |
| Clip1 |
T |
G |
5: 123,778,609 (GRCm39) |
E438A |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,669 (GRCm39) |
I553M |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,003,738 (GRCm39) |
N2605K |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,155,094 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,161,036 (GRCm39) |
D2168V |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,290 (GRCm39) |
N443K |
possibly damaging |
Het |
| Gm9493 |
A |
G |
19: 23,597,277 (GRCm39) |
I58V |
probably benign |
Het |
| Gpr65 |
T |
G |
12: 98,242,324 (GRCm39) |
S326A |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,057,739 (GRCm39) |
E231G |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,122,802 (GRCm39) |
D718G |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,223 (GRCm39) |
M1V |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,293,660 (GRCm39) |
|
probably null |
Het |
| Lipn |
A |
G |
19: 34,049,242 (GRCm39) |
N136S |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,258 (GRCm39) |
T2389I |
unknown |
Het |
| Myo7b |
G |
A |
18: 32,121,604 (GRCm39) |
A767V |
possibly damaging |
Het |
| Necab1 |
A |
T |
4: 15,111,244 (GRCm39) |
S61R |
possibly damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,994 (GRCm39) |
T278A |
probably damaging |
Het |
| Phyhip |
G |
A |
14: 70,699,260 (GRCm39) |
R21H |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,667,560 (GRCm39) |
T116I |
probably damaging |
Het |
| Pnn |
C |
A |
12: 59,119,200 (GRCm39) |
S594R |
unknown |
Het |
| Psen1 |
T |
A |
12: 83,761,540 (GRCm39) |
I114N |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,188 (GRCm39) |
V82E |
probably damaging |
Het |
| Slc25a44 |
A |
G |
3: 88,323,368 (GRCm39) |
I246T |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,296,390 (GRCm39) |
Y308F |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,662,930 (GRCm39) |
A166E |
possibly damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,382,881 (GRCm39) |
V140D |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,935,937 (GRCm39) |
T1704A |
probably benign |
Het |
| Txndc12 |
A |
G |
4: 108,718,606 (GRCm39) |
D159G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,427,139 (GRCm39) |
L16P |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,692,532 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn2r58 |
C |
A |
7: 41,487,123 (GRCm39) |
A591S |
probably benign |
Het |
| Wdpcp |
T |
C |
11: 21,698,919 (GRCm39) |
I566T |
probably damaging |
Het |
| Zfp866 |
T |
A |
8: 70,218,202 (GRCm39) |
K473* |
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 |
|
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 |
|
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'- AACACCTTCTTCGGGCTGTAC -3'
(R):5'- TGAAGCTTAAGATAGCCCACTG -3'
Sequencing Primer
(F):5'- CAGGCTCCTGTGGGGCAG -3'
(R):5'- CCACTGGGGTTGACATGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation