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 |
108717277-108777621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108772059 bp (GRCm39)
|
| 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: 137,567,640 (GRCm39) |
C425R |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,257,137 (GRCm39) |
S20P |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 50,118,479 (GRCm39) |
T1023I |
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,671,285 (GRCm39) |
V46E |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,697,358 (GRCm39) |
M321K |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 4,992,018 (GRCm39) |
R206* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,088,351 (GRCm39) |
F319Y |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,533,161 (GRCm39) |
R272G |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,103,065 (GRCm39) |
I70N |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,521 (GRCm39) |
D871G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,312,689 (GRCm39) |
A160T |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,952,663 (GRCm39) |
L1451P |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,969,937 (GRCm39) |
M1T |
probably null |
Het |
| Csrnp1 |
G |
C |
9: 119,802,612 (GRCm39) |
Q200E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,621,074 (GRCm39) |
P545S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,662 (GRCm39) |
E107G |
probably benign |
Het |
| Errfi1 |
A |
G |
4: 150,949,843 (GRCm39) |
I49V |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,710,533 (GRCm39) |
L735S |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,139,264 (GRCm39) |
|
probably null |
Het |
| Fbp2 |
G |
C |
13: 62,984,973 (GRCm39) |
P316R |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,976 (GRCm39) |
G255V |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,374,737 (GRCm39) |
I704N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,134 (GRCm39) |
S193P |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,269,631 (GRCm39) |
I7T |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,475,355 (GRCm39) |
H331R |
probably damaging |
Het |
| Gpr19 |
C |
T |
6: 134,846,961 (GRCm39) |
V241M |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,606,612 (GRCm39) |
A437T |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,473,634 (GRCm39) |
D253G |
probably damaging |
Het |
| Ifna9 |
G |
C |
4: 88,510,409 (GRCm39) |
Q72E |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,351,521 (GRCm39) |
T384A |
probably benign |
Het |
| Ip6k1 |
C |
A |
9: 107,922,761 (GRCm39) |
C221* |
probably null |
Het |
| Kcna1 |
C |
A |
6: 126,619,494 (GRCm39) |
E275D |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,411,970 (GRCm39) |
Q468* |
probably null |
Het |
| Kin |
T |
C |
2: 10,097,150 (GRCm39) |
V333A |
probably damaging |
Het |
| Leprot |
G |
T |
4: 101,513,484 (GRCm39) |
V91L |
probably benign |
Het |
| Mettl21c |
A |
G |
1: 44,056,344 (GRCm39) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,172,384 (GRCm39) |
F1161S |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
| Nipal2 |
A |
T |
15: 34,625,168 (GRCm39) |
*72K |
probably null |
Het |
| Nol3 |
T |
C |
8: 106,005,858 (GRCm39) |
V84A |
probably benign |
Het |
| Or2y16 |
C |
T |
11: 49,334,732 (GRCm39) |
S18L |
probably benign |
Het |
| Or4c101 |
A |
T |
2: 88,389,827 (GRCm39) |
I5F |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,341,620 (GRCm39) |
I14T |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,056,473 (GRCm39) |
V1068A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,349,671 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,936,026 (GRCm39) |
D802G |
probably damaging |
Het |
| Plac8l1 |
A |
T |
18: 42,311,996 (GRCm39) |
V141E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,051,395 (GRCm39) |
S275P |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,552,009 (GRCm39) |
I959K |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,628 (GRCm39) |
K1400R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,793,458 (GRCm39) |
S263P |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,086,874 (GRCm39) |
V34I |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,052 (GRCm39) |
D234G |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,148,738 (GRCm39) |
S934T |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,915,793 (GRCm39) |
|
probably null |
Het |
| St3gal4 |
T |
C |
9: 34,963,592 (GRCm39) |
I239V |
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,295,674 (GRCm39) |
T399I |
probably damaging |
Het |
| Syt11 |
T |
C |
3: 88,669,674 (GRCm39) |
K6E |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,122 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,504 (GRCm39) |
Y113C |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm39) |
W406R |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,993,202 (GRCm39) |
I563V |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,866,090 (GRCm39) |
|
probably null |
Het |
| Tmub2 |
T |
C |
11: 102,178,312 (GRCm39) |
S72P |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,286,651 (GRCm39) |
T202I |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,319,202 (GRCm39) |
E449G |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,879,026 (GRCm39) |
G21V |
unknown |
Het |
| Ttll12 |
G |
A |
15: 83,472,856 (GRCm39) |
R127C |
probably damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,703,447 (GRCm39) |
Y275F |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,369,103 (GRCm39) |
D319G |
probably damaging |
Het |
| Zc3h14 |
T |
G |
12: 98,751,262 (GRCm39) |
C159W |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,675,121 (GRCm39) |
P2057L |
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 |
|
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 |
|
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'- 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