Incidental Mutation 'R1792:Gak'
| ID |
201814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
039822-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1792 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 108733397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 47
(Y47*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046603]
[ENSMUST00000135225]
[ENSMUST00000139303]
[ENSMUST00000145467]
[ENSMUST00000199048]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046603
AA Change: Y684*
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: Y684*
| 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
AA Change: M171K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116862
Gene: ENSMUSG00000062234
AA Change: M171K
| 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 null
Transcript: ENSMUST00000156110
AA Change: Y35*
|
| SMART Domains |
Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: Y35*
| 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 null
Transcript: ENSMUST00000200204
AA Change: Y47*
|
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.4%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
C |
T |
11: 110,074,870 (GRCm39) |
V1398I |
probably benign |
Het |
| Ackr3 |
A |
T |
1: 90,142,620 (GRCm39) |
N360Y |
probably benign |
Het |
| Acr |
T |
G |
15: 89,457,346 (GRCm39) |
M198R |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,054,277 (GRCm39) |
M585K |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,267,552 (GRCm39) |
C853S |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,067,694 (GRCm39) |
S1410R |
probably benign |
Het |
| Asprv1 |
T |
A |
6: 86,605,354 (GRCm39) |
F67I |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,167,214 (GRCm39) |
Y1095F |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,788,707 (GRCm39) |
Q380R |
possibly damaging |
Het |
| Cdc45 |
A |
T |
16: 18,626,090 (GRCm39) |
D142E |
probably benign |
Het |
| Cs |
A |
T |
10: 128,195,948 (GRCm39) |
N386Y |
possibly damaging |
Het |
| Dsc3 |
A |
T |
18: 20,120,055 (GRCm39) |
V201E |
probably damaging |
Het |
| Dusp26 |
G |
T |
8: 31,581,963 (GRCm39) |
R19L |
probably benign |
Het |
| Esyt3 |
C |
A |
9: 99,240,169 (GRCm39) |
E92* |
probably null |
Het |
| Ext2 |
T |
C |
2: 93,534,890 (GRCm39) |
N625D |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,793,929 (GRCm39) |
K102* |
probably null |
Het |
| Fmnl2 |
T |
A |
2: 52,932,329 (GRCm39) |
S103T |
possibly damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,859 (GRCm39) |
I451F |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,372,166 (GRCm39) |
L198Q |
probably damaging |
Het |
| Gm11559 |
T |
A |
11: 99,755,755 (GRCm39) |
S135T |
unknown |
Het |
| Gm14496 |
A |
T |
2: 181,637,946 (GRCm39) |
D340V |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,810,259 (GRCm39) |
T47A |
possibly damaging |
Het |
| Gtf2ird1 |
A |
T |
5: 134,395,790 (GRCm39) |
|
probably null |
Het |
| Herc4 |
T |
A |
10: 63,081,680 (GRCm39) |
M1K |
probably null |
Het |
| Hirip3 |
T |
A |
7: 126,461,792 (GRCm39) |
V29E |
probably damaging |
Het |
| Hs3st5 |
A |
G |
10: 36,708,720 (GRCm39) |
D85G |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,543 (GRCm39) |
S2981T |
probably damaging |
Het |
| Iho1 |
A |
C |
9: 108,282,111 (GRCm39) |
S526A |
possibly damaging |
Het |
| Il20ra |
G |
A |
10: 19,635,384 (GRCm39) |
V542I |
probably damaging |
Het |
| Itgb2l |
C |
A |
16: 96,226,282 (GRCm39) |
C603F |
probably damaging |
Het |
| Klhl41 |
A |
C |
2: 69,501,146 (GRCm39) |
K202N |
probably benign |
Het |
| Lct |
G |
A |
1: 128,255,679 (GRCm39) |
S121F |
possibly damaging |
Het |
| Lhx6 |
C |
T |
2: 35,977,387 (GRCm39) |
G355D |
probably damaging |
Het |
| Limk2 |
A |
G |
11: 3,308,236 (GRCm39) |
V121A |
probably benign |
Het |
| Med1 |
T |
G |
11: 98,048,109 (GRCm39) |
K896Q |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,214,371 (GRCm39) |
F2789S |
probably benign |
Het |
| Nemf |
T |
A |
12: 69,359,343 (GRCm39) |
Y997F |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,590 (GRCm39) |
S296P |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,896,252 (GRCm39) |
N961D |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,286,743 (GRCm39) |
T163A |
probably benign |
Het |
| Or1r1 |
A |
C |
11: 73,874,673 (GRCm39) |
S254A |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,112 (GRCm39) |
F27I |
probably benign |
Het |
| Or6y1 |
T |
C |
1: 174,276,303 (GRCm39) |
V38A |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,489,166 (GRCm39) |
H247L |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,359,237 (GRCm39) |
V866E |
probably damaging |
Het |
| Pla2g4e |
G |
A |
2: 119,998,955 (GRCm39) |
P803L |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,860,968 (GRCm39) |
V217A |
possibly damaging |
Het |
| Pole4 |
G |
A |
6: 82,629,720 (GRCm39) |
P34L |
unknown |
Het |
| Pole4 |
G |
T |
6: 82,629,721 (GRCm39) |
P34T |
unknown |
Het |
| Ptchd3 |
G |
A |
11: 121,732,377 (GRCm39) |
W422* |
probably null |
Het |
| Rab1b |
C |
T |
19: 5,150,513 (GRCm39) |
A167T |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,802,821 (GRCm39) |
M359T |
probably benign |
Het |
| Rexo4 |
T |
C |
2: 26,850,248 (GRCm39) |
N310D |
probably benign |
Het |
| Rgma |
C |
T |
7: 73,067,585 (GRCm39) |
T280M |
probably damaging |
Het |
| Rnaset2a |
A |
T |
17: 8,364,408 (GRCm39) |
I43N |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,778,446 (GRCm39) |
V399E |
probably damaging |
Het |
| Scd4 |
T |
G |
19: 44,326,013 (GRCm39) |
Y122* |
probably null |
Het |
| Sirt6 |
T |
C |
10: 81,462,355 (GRCm39) |
I15V |
possibly damaging |
Het |
| Slamf8 |
A |
T |
1: 172,415,526 (GRCm39) |
V104E |
possibly damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,475 (GRCm39) |
I285T |
possibly damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,115,104 (GRCm39) |
A207V |
possibly damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,930,155 (GRCm39) |
S185P |
probably benign |
Het |
| Smarcc2 |
A |
C |
10: 128,299,740 (GRCm39) |
N135T |
probably damaging |
Het |
| Susd6 |
T |
C |
12: 80,921,065 (GRCm39) |
S221P |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 4,990,975 (GRCm39) |
G8418D |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,640,559 (GRCm39) |
K193E |
possibly damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,318,853 (GRCm39) |
V95I |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,963,595 (GRCm39) |
D225G |
probably benign |
Het |
| Tfip11 |
A |
T |
5: 112,477,263 (GRCm39) |
I82F |
possibly damaging |
Het |
| Tmem41a |
C |
T |
16: 21,755,731 (GRCm39) |
G192S |
probably null |
Het |
| Trrap |
G |
A |
5: 144,790,396 (GRCm39) |
A3619T |
possibly damaging |
Het |
| Tspoap1 |
G |
A |
11: 87,656,707 (GRCm39) |
|
probably null |
Het |
| Wfdc21 |
T |
C |
11: 83,637,883 (GRCm39) |
S11P |
probably benign |
Het |
| Zc2hc1b |
A |
T |
10: 13,044,474 (GRCm39) |
V63E |
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 |
|
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'- AAGCAAGTGCACTGAGAGCC -3'
(R):5'- CCTTGACACTAGGGAAGCAG -3'
Sequencing Primer
(F):5'- GACAGAATGTCCTGCTGCTC -3'
(R):5'- AGGGCAGTAGTCGTATGTGCATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation