Incidental Mutation 'R6359:Gak'
ID 514184
Institutional Source Beutler Lab
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Name cyclin G associated kinase
Synonyms D130045N16Rik
MMRRC Submission 044509-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6359 (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 C at 108719766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 458 (E458G)
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: E1156G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: E1156G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000133745
Predicted Effect probably benign
Transcript: ENSMUST00000135225
SMART Domains Protein: ENSMUSP00000118008
Gene: ENSMUSG00000062234

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000156110
AA Change: E458G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: E458G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000199010
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (30/30)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic5 A T 3: 81,911,803 (GRCm39) D133V possibly damaging Het
Atp11b A G 3: 35,832,210 (GRCm39) I22V probably benign Het
Ccdc18 C T 5: 108,283,391 (GRCm39) T34I probably damaging Het
Ces2a A G 8: 105,462,710 (GRCm39) I100V probably benign Het
Ddi2 T A 4: 141,411,899 (GRCm39) T338S probably damaging Het
Dync1li1 A G 9: 114,542,638 (GRCm39) I267V probably benign Het
Eif1ad14 G A 12: 87,886,275 (GRCm39) T118M probably benign Het
Fbxo10 A T 4: 45,041,796 (GRCm39) V637E possibly damaging Het
Glp1r G T 17: 31,148,946 (GRCm39) V287F probably damaging Het
Gsdmc2 T C 15: 63,696,866 (GRCm39) E435G probably damaging Het
Hsd11b1 T A 1: 192,924,660 (GRCm39) probably benign Het
Igkv13-84 T G 6: 68,916,592 (GRCm39) F3V probably benign Het
Igsf9b C A 9: 27,220,895 (GRCm39) A87E probably benign Het
Ints1 G T 5: 139,741,972 (GRCm39) L1796I probably benign Het
Ipo8 A G 6: 148,678,748 (GRCm39) L950P probably benign Het
Lama5 T C 2: 179,837,775 (GRCm39) D931G probably benign Het
Lamb1 A G 12: 31,332,715 (GRCm39) E327G probably damaging Het
Lrp1b T C 2: 41,185,608 (GRCm39) Y1369C probably damaging Het
Mapk3 A G 7: 126,359,928 (GRCm39) T67A probably benign Het
Mrpl4 T A 9: 20,919,030 (GRCm39) V225E probably damaging Het
Ncln C T 10: 81,326,118 (GRCm39) G278S probably damaging Het
Nlrp3 G A 11: 59,439,392 (GRCm39) R323Q probably damaging Het
Nol8 A G 13: 49,817,546 (GRCm39) D774G probably benign Het
Or11i1 A T 3: 106,729,731 (GRCm39) I48N probably damaging Het
Or52p1 T C 7: 104,267,510 (GRCm39) V208A probably damaging Het
Plekha8 G T 6: 54,590,104 (GRCm39) C23F probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Spata31d1a A G 13: 59,850,920 (GRCm39) S403P probably benign Het
Spata31d1c A T 13: 65,183,406 (GRCm39) N316I possibly damaging Het
Tmem30c A T 16: 57,096,513 (GRCm39) S203T probably benign Het
Ttn T G 2: 76,569,300 (GRCm39) N18871H possibly damaging Het
Other mutations in Gak
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAGATGCCTCAAGACACCAG -3'
(R):5'- TACAAGTGCCCTGTGATGTCTC -3'

Sequencing Primer
(F):5'- GCCTCAAGACACCAGCACAC -3'
(R):5'- TGTGATGTCTCCCCAGGC -3'
Posted On 2018-04-27