Incidental Mutation 'R8437:Gak'
| ID |
654039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
067901-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8437 (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 G
at 108757272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 242
(E242D)
|
| 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: E242D
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: E242D
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
C |
7: 78,998,178 (GRCm39) |
Y237H |
probably damaging |
Het |
| Adprh |
T |
C |
16: 38,266,449 (GRCm39) |
E231G |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,030,705 (GRCm39) |
S631G |
probably benign |
Het |
| Bpifa5 |
T |
A |
2: 154,007,526 (GRCm39) |
L156H |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,644,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,551,956 (GRCm39) |
G508S |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,710,822 (GRCm39) |
T794A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 95,987,899 (GRCm39) |
C497Y |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,888,602 (GRCm39) |
I168T |
possibly damaging |
Het |
| Dtna |
C |
T |
18: 23,723,398 (GRCm39) |
Q201* |
probably null |
Het |
| Fetub |
T |
C |
16: 22,752,985 (GRCm39) |
S146P |
possibly damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,695,694 (GRCm39) |
|
probably benign |
Het |
| Ginm1 |
C |
T |
10: 7,646,130 (GRCm39) |
C290Y |
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,296,006 (GRCm39) |
S386P |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hnrnpa3 |
T |
G |
2: 75,493,019 (GRCm39) |
S220A |
unknown |
Het |
| Hydin |
A |
G |
8: 111,189,367 (GRCm39) |
E1257G |
probably damaging |
Het |
| Ier3ip1 |
C |
T |
18: 77,017,874 (GRCm39) |
A18V |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,651 (GRCm39) |
C1361S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,301,351 (GRCm39) |
Q955R |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,326,277 (GRCm39) |
M1349R |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,903,602 (GRCm39) |
V316I |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,482,695 (GRCm39) |
I501T |
possibly damaging |
Het |
| Msl2 |
T |
A |
9: 100,978,167 (GRCm39) |
S180R |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,569,220 (GRCm39) |
V1100I |
unknown |
Het |
| Nbas |
T |
C |
12: 13,616,251 (GRCm39) |
V2263A |
possibly damaging |
Het |
| Or6b2 |
C |
T |
1: 92,408,187 (GRCm39) |
S52N |
probably benign |
Het |
| Or7g33 |
C |
T |
9: 19,448,833 (GRCm39) |
R131H |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,114,109 (GRCm39) |
I130L |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,328,375 (GRCm39) |
T640A |
probably damaging |
Het |
| Pole2 |
G |
C |
12: 69,250,961 (GRCm39) |
Y467* |
probably null |
Het |
| Pxdn |
C |
T |
12: 30,052,043 (GRCm39) |
T740M |
probably damaging |
Het |
| Rabac1 |
T |
C |
7: 24,671,672 (GRCm39) |
I83V |
probably damaging |
Het |
| Rrp7a |
T |
C |
15: 83,001,773 (GRCm39) |
Q245R |
probably damaging |
Het |
| Sae1 |
A |
G |
7: 16,104,279 (GRCm39) |
V110A |
probably damaging |
Het |
| Sema3c |
G |
T |
5: 17,867,936 (GRCm39) |
V116F |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,231,963 (GRCm39) |
Y200C |
probably damaging |
Het |
| Slc25a45 |
C |
T |
19: 5,930,135 (GRCm39) |
T35M |
probably benign |
Het |
| Speer4b |
C |
T |
5: 27,703,818 (GRCm39) |
R107Q |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,006,651 (GRCm39) |
T843A |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,243,856 (GRCm39) |
I2004F |
probably damaging |
Het |
| Tma16 |
T |
C |
8: 66,929,448 (GRCm39) |
D182G |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,610,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,830,800 (GRCm39) |
T19A |
probably damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,753 (GRCm39) |
G80S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,798,332 (GRCm39) |
C2025R |
|
Het |
| Zyg11a |
T |
A |
4: 108,075,103 (GRCm39) |
H6L |
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 |
|
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 |
|
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'- TCTTCTAGAAGCAGTCACAAGTG -3'
(R):5'- GACCTCCGTAAGCAACATGG -3'
Sequencing Primer
(F):5'- TACGACAGACAAGCTGGA -3'
(R):5'- TACAGCATTGCCTGGCCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation