Incidental Mutation 'R3773:Gak'
| ID |
273421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
040749-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108730538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 956
(T956I)
|
| 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: T956I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: T956I
| 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: 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 |
unknown
Transcript: ENSMUST00000156110
AA Change: T258I
|
| SMART Domains |
Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: T258I
| 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 |
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,532,046 (GRCm39) |
K899N |
probably benign |
Het |
| Acsbg3 |
T |
C |
17: 57,183,262 (GRCm39) |
M1T |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,647,162 (GRCm39) |
S3126L |
probably damaging |
Het |
| Apba3 |
C |
A |
10: 81,108,443 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
G |
T |
1: 152,632,556 (GRCm39) |
A195S |
probably benign |
Het |
| Asap3 |
C |
T |
4: 135,954,886 (GRCm39) |
T72I |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,762,178 (GRCm39) |
H201Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,594,913 (GRCm39) |
D16G |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,180 (GRCm39) |
K19E |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,743 (GRCm39) |
E263G |
probably benign |
Het |
| Cyp17a1 |
T |
G |
19: 46,658,162 (GRCm39) |
K250T |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,074,639 (GRCm39) |
D712G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,724,919 (GRCm39) |
W442R |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,325 (GRCm39) |
G131R |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 63,989,264 (GRCm39) |
D270G |
probably damaging |
Het |
| Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,321,663 (GRCm39) |
R999S |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,806,927 (GRCm39) |
F21L |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,283,158 (GRCm39) |
W303* |
probably null |
Het |
| Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Matk |
T |
A |
10: 81,094,131 (GRCm39) |
L21Q |
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,128,907 (GRCm39) |
V160A |
probably benign |
Het |
| Nhlrc4 |
T |
A |
17: 26,162,367 (GRCm39) |
K127* |
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
| Nup210l |
T |
G |
3: 90,027,201 (GRCm39) |
Y194* |
probably null |
Het |
| Or1j16 |
A |
T |
2: 36,530,333 (GRCm39) |
Y94F |
probably benign |
Het |
| Or2h2 |
G |
T |
17: 37,396,957 (GRCm39) |
Y33* |
probably null |
Het |
| Or7a41 |
G |
A |
10: 78,871,014 (GRCm39) |
C128Y |
possibly damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,568 (GRCm39) |
M136L |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,943 (GRCm39) |
V725D |
probably benign |
Het |
| Pes1 |
A |
G |
11: 3,925,548 (GRCm39) |
Y221C |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,266,535 (GRCm39) |
I603V |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,624,987 (GRCm39) |
E97G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,492,034 (GRCm39) |
D842G |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf26rt |
C |
T |
6: 76,473,942 (GRCm39) |
V225I |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,330,889 (GRCm39) |
I164T |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
| Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
| Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,918,061 (GRCm39) |
K605R |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,066,309 (GRCm39) |
K579R |
probably benign |
Het |
| Stxbp5 |
G |
A |
10: 9,644,671 (GRCm39) |
T960I |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,671,565 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,805,893 (GRCm39) |
S1517P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,748,177 (GRCm39) |
S2492P |
probably damaging |
Het |
| Tsg101 |
T |
C |
7: 46,539,363 (GRCm39) |
*254W |
probably null |
Het |
| Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,275,672 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,351 (GRCm39) |
I142F |
probably benign |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,710 (GRCm39) |
C130F |
possibly damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,919 (GRCm39) |
D235G |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
| Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
| Zbed4 |
T |
C |
15: 88,665,050 (GRCm39) |
S373P |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,507,140 (GRCm39) |
L1047Q |
probably benign |
Het |
| Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
| Zfp61 |
T |
C |
7: 23,995,406 (GRCm39) |
M1V |
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 |
|
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'- GCTTGTGAGCTGAGACCATTGG -3'
(R):5'- TTGATCTCCTGGGGCTACACTC -3'
Sequencing Primer
(F):5'- TTGGAACTAATGTAGTCACATGCGG -3'
(R):5'- CTACACTCTGAGGGGGACTTAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation