Incidental Mutation 'R1530:Gak'
| ID |
166541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gak
|
| Ensembl Gene |
ENSMUSG00000062234 |
| Gene Name |
cyclin G associated kinase |
| Synonyms |
D130045N16Rik |
| MMRRC Submission |
039569-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108569411-108629755 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108624193 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 86
(V86A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046603]
[ENSMUST00000135225]
[ENSMUST00000145467]
[ENSMUST00000199048]
[ENSMUST00000199662]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046603
AA Change: V86A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: V86A
| 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 |
possibly damaging
Transcript: ENSMUST00000135225
AA Change: V86A
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118008
Gene: ENSMUSG00000062234
AA Change: V86A
| 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 |
possibly damaging
Transcript: ENSMUST00000145467
AA Change: V86A
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118713
Gene: ENSMUSG00000062234
AA Change: V86A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199662
|
| SMART Domains |
Protein: ENSMUSP00000143646
Gene: ENSMUSG00000062234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
T |
C |
5: 137,569,378 (GRCm38) |
C425R |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,349,830 (GRCm38) |
S20P |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 49,961,137 (GRCm38) |
T1023I |
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,939,088 (GRCm38) |
V46E |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,991,721 (GRCm38) |
M321K |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 4,942,018 (GRCm38) |
R206* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,197,524 (GRCm38) |
F319Y |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,400,104 (GRCm38) |
R272G |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,261,145 (GRCm38) |
I70N |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,524,695 (GRCm38) |
D871G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,482,208 (GRCm38) |
A160T |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 135,246,902 (GRCm38) |
L1451P |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,732,488 (GRCm38) |
M1T |
probably null |
Het |
| Csrnp1 |
G |
C |
9: 119,973,546 (GRCm38) |
Q200E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,819,874 (GRCm38) |
P545S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,646,543 (GRCm38) |
E107G |
probably benign |
Het |
| Errfi1 |
A |
G |
4: 150,865,386 (GRCm38) |
I49V |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,880,189 (GRCm38) |
L735S |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,092,490 (GRCm38) |
|
probably null |
Het |
| Fbp2 |
G |
C |
13: 62,837,159 (GRCm38) |
P316R |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,682,976 (GRCm38) |
G255V |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,386,305 (GRCm38) |
I704N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,605,308 (GRCm38) |
S193P |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,433,769 (GRCm38) |
I7T |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,327,489 (GRCm38) |
H331R |
probably damaging |
Het |
| Gpr19 |
C |
T |
6: 134,869,998 (GRCm38) |
V241M |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,458,799 (GRCm38) |
A437T |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,444,780 (GRCm38) |
D253G |
probably damaging |
Het |
| Ifna9 |
G |
C |
4: 88,592,172 (GRCm38) |
Q72E |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,312,361 (GRCm38) |
T384A |
probably benign |
Het |
| Ip6k1 |
C |
A |
9: 108,045,562 (GRCm38) |
C221* |
probably null |
Het |
| Kcna1 |
C |
A |
6: 126,642,531 (GRCm38) |
E275D |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,484,232 (GRCm38) |
Q468* |
probably null |
Het |
| Kin |
T |
C |
2: 10,092,339 (GRCm38) |
V333A |
probably damaging |
Het |
| Leprot |
G |
T |
4: 101,656,287 (GRCm38) |
V91L |
probably benign |
Het |
| Mettl21c |
A |
G |
1: 44,017,184 (GRCm38) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,122,384 (GRCm38) |
F1161S |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,248,909 (GRCm38) |
L321P |
probably benign |
Het |
| Nipal2 |
A |
T |
15: 34,625,022 (GRCm38) |
*72K |
probably null |
Het |
| Nol3 |
T |
C |
8: 105,279,226 (GRCm38) |
V84A |
probably benign |
Het |
| Or2y16 |
C |
T |
11: 49,443,905 (GRCm38) |
S18L |
probably benign |
Het |
| Or4c101 |
A |
T |
2: 88,559,483 (GRCm38) |
I5F |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,430,324 (GRCm38) |
I14T |
probably damaging |
Het |
| Pcare |
A |
G |
17: 71,749,478 (GRCm38) |
V1068A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,189,010 (GRCm38) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 99,053,973 (GRCm38) |
D802G |
probably damaging |
Het |
| Plac8l1 |
A |
T |
18: 42,178,931 (GRCm38) |
V141E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,167,192 (GRCm38) |
S275P |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,243,865 (GRCm38) |
A53T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,661,183 (GRCm38) |
I959K |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,495,562 (GRCm38) |
K1400R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,826,684 (GRCm38) |
S263P |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,109,913 (GRCm38) |
V34I |
probably damaging |
Het |
| Slc17a2 |
A |
G |
13: 23,819,069 (GRCm38) |
D234G |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,015,671 (GRCm38) |
S934T |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,845,569 (GRCm38) |
|
probably null |
Het |
| St3gal4 |
T |
C |
9: 35,052,296 (GRCm38) |
I239V |
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,412 (GRCm38) |
T399I |
probably damaging |
Het |
| Syt11 |
T |
C |
3: 88,762,367 (GRCm38) |
K6E |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,487,296 (GRCm38) |
Y121H |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,496,055 (GRCm38) |
Y113C |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm38) |
W406R |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 130,151,282 (GRCm38) |
I563V |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,827,009 (GRCm38) |
|
probably null |
Het |
| Tmub2 |
T |
C |
11: 102,287,486 (GRCm38) |
S72P |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,150,143 (GRCm38) |
T202I |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,272,428 (GRCm38) |
E449G |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,912,767 (GRCm38) |
G21V |
unknown |
Het |
| Ttll12 |
G |
A |
15: 83,588,655 (GRCm38) |
R127C |
probably damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,351,152 (GRCm38) |
Y275F |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,329,944 (GRCm38) |
D319G |
probably damaging |
Het |
| Zc3h14 |
T |
G |
12: 98,785,003 (GRCm38) |
C159W |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 108,948,489 (GRCm38) |
P2057L |
probably damaging |
Het |
|
| Other mutations in Gak |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00694:Gak
|
APN |
5 |
108,613,634 (GRCm38) |
makesense |
probably null |
|
|
IGL00768:Gak
|
APN |
5 |
108,576,654 (GRCm38) |
missense |
probably benign |
|
|
IGL01128:Gak
|
APN |
5 |
108,592,370 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01557:Gak
|
APN |
5 |
108,584,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02559:Gak
|
APN |
5 |
108,584,232 (GRCm38) |
missense |
probably null |
0.07 |
|
PIT4449001:Gak
|
UTSW |
5 |
108,580,925 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0030:Gak
|
UTSW |
5 |
108,613,547 (GRCm38) |
nonsense |
probably null |
|
|
R1403:Gak
|
UTSW |
5 |
108,591,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1403:Gak
|
UTSW |
5 |
108,591,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1646:Gak
|
UTSW |
5 |
108,602,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1699:Gak
|
UTSW |
5 |
108,604,377 (GRCm38) |
nonsense |
probably null |
|
|
R1702:Gak
|
UTSW |
5 |
108,606,376 (GRCm38) |
splice site |
probably null |
|
|
R1732:Gak
|
UTSW |
5 |
108,576,582 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1738:Gak
|
UTSW |
5 |
108,616,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1772:Gak
|
UTSW |
5 |
108,606,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1792:Gak
|
UTSW |
5 |
108,585,531 (GRCm38) |
nonsense |
probably null |
|
|
R2068:Gak
|
UTSW |
5 |
108,570,225 (GRCm38) |
missense |
probably benign |
|
|
R2137:Gak
|
UTSW |
5 |
108,606,877 (GRCm38) |
splice site |
probably null |
|
|
R2138:Gak
|
UTSW |
5 |
108,606,877 (GRCm38) |
splice site |
probably null |
|
|
R2139:Gak
|
UTSW |
5 |
108,606,877 (GRCm38) |
splice site |
probably null |
|
|
R2904:Gak
|
UTSW |
5 |
108,624,214 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R3080:Gak
|
UTSW |
5 |
108,613,602 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3773:Gak
|
UTSW |
5 |
108,582,672 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4523:Gak
|
UTSW |
5 |
108,576,566 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4665:Gak
|
UTSW |
5 |
108,582,960 (GRCm38) |
missense |
probably benign |
|
|
R4703:Gak
|
UTSW |
5 |
108,569,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4890:Gak
|
UTSW |
5 |
108,580,876 (GRCm38) |
unclassified |
probably benign |
|
|
R4951:Gak
|
UTSW |
5 |
108,582,718 (GRCm38) |
missense |
probably benign |
|
|
R4971:Gak
|
UTSW |
5 |
108,596,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5328:Gak
|
UTSW |
5 |
108,617,001 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5436:Gak
|
UTSW |
5 |
108,592,352 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5496:Gak
|
UTSW |
5 |
108,576,617 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6207:Gak
|
UTSW |
5 |
108,625,029 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6359:Gak
|
UTSW |
5 |
108,571,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6468:Gak
|
UTSW |
5 |
108,623,336 (GRCm38) |
nonsense |
probably null |
|
|
R6682:Gak
|
UTSW |
5 |
108,598,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6915:Gak
|
UTSW |
5 |
108,602,950 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7403:Gak
|
UTSW |
5 |
108,613,535 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7458:Gak
|
UTSW |
5 |
108,583,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7522:Gak
|
UTSW |
5 |
108,591,199 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7650:Gak
|
UTSW |
5 |
108,584,295 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7737:Gak
|
UTSW |
5 |
108,617,008 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8437:Gak
|
UTSW |
5 |
108,609,406 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8739:Gak
|
UTSW |
5 |
108,591,738 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8954:Gak
|
UTSW |
5 |
108,629,652 (GRCm38) |
start gained |
probably benign |
|
|
X0064:Gak
|
UTSW |
5 |
108,613,533 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Gak
|
UTSW |
5 |
108,585,352 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACAAAGTGGGACTCTCTTTGTG -3'
(R):5'- CCCTTTTCTTGTCAAGGGTGGGAC -3'
Sequencing Primer
(F):5'- GGGACTCTCTTTGTGATAACCAAC -3'
(R):5'- TAGTCAGTGGACCCTTAGACCAG -3'
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| Posted On |
2014-04-13 |
Incidental Mutation