Incidental Mutation 'R6682:Gak'
ID 527535
Institutional Source Beutler Lab
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Name cyclin G associated kinase
Synonyms D130045N16Rik
MMRRC Submission 044801-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 108717277-108777621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108746742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 430 (K430I)
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 damaging
Transcript: ENSMUST00000046603
AA Change: K430I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: K430I

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 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 noncoding transcript
Transcript: ENSMUST00000137872
Predicted Effect probably benign
Transcript: ENSMUST00000139303
SMART Domains Protein: ENSMUSP00000116862
Gene: ENSMUSG00000062234

DomainStartEndE-ValueType
PTEN_C2 41 164 4.73e-27 SMART
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 noncoding transcript
Transcript: ENSMUST00000196522
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T C 1: 139,385,460 (GRCm39) V368A possibly damaging Het
Bcl9l A G 9: 44,412,400 (GRCm39) T92A possibly damaging Het
Celsr2 A T 3: 108,307,817 (GRCm39) probably null Het
Cndp2 T C 18: 84,695,455 (GRCm39) K149E probably benign Het
Cnpy4 T C 5: 138,185,984 (GRCm39) probably null Het
Cox6c A T 15: 35,938,319 (GRCm39) probably null Het
Cpt2 G T 4: 107,761,627 (GRCm39) S158R probably damaging Het
Dlgap1 A G 17: 71,094,118 (GRCm39) K813R probably damaging Het
Dock10 A C 1: 80,490,338 (GRCm39) L1927R probably damaging Het
Grik3 T A 4: 125,544,259 (GRCm39) Y327N probably damaging Het
Ldb3 T A 14: 34,274,221 (GRCm39) T334S possibly damaging Het
Ldlr A G 9: 21,643,671 (GRCm39) D85G probably benign Het
Med26 T A 8: 73,249,927 (GRCm39) T391S probably benign Het
Mmp27 A G 9: 7,573,606 (GRCm39) T233A probably benign Het
Mob1a A G 6: 83,311,132 (GRCm39) Y117C possibly damaging Het
Mrps35 A T 6: 146,949,777 (GRCm39) E97V possibly damaging Het
Msln A T 17: 25,971,993 (GRCm39) S75T probably damaging Het
Myoz1 C T 14: 20,703,687 (GRCm39) probably null Het
Nim1k A G 13: 120,173,724 (GRCm39) I390T probably benign Het
Or10k2 A G 8: 84,268,187 (GRCm39) H138R probably benign Het
Or4k51 C T 2: 111,584,980 (GRCm39) P129S probably damaging Het
Pclo A C 5: 14,589,893 (GRCm39) Q731P unknown Het
Prl3d3 G A 13: 27,345,023 (GRCm39) E132K probably benign Het
Pth1r C T 9: 110,556,319 (GRCm39) probably null Het
Ptpru T C 4: 131,548,093 (GRCm39) M135V probably benign Het
Slc12a9 A T 5: 137,325,663 (GRCm39) L316Q probably damaging Het
Slc35f6 G A 5: 30,814,764 (GRCm39) M177I possibly damaging Het
Smc4 T A 3: 68,914,574 (GRCm39) S62R probably damaging Het
Tmem179 C T 12: 112,469,714 (GRCm39) D29N probably benign Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Trpc4ap C T 2: 155,479,687 (GRCm39) probably null Het
Trpm8 C A 1: 88,254,224 (GRCm39) T149K probably damaging Het
Uhmk1 C T 1: 170,039,804 (GRCm39) probably null Het
Vmn2r79 C A 7: 86,653,370 (GRCm39) T545K possibly damaging Het
Vmn2r95 C A 17: 18,660,489 (GRCm39) N300K probably damaging Het
Wdr41 G A 13: 95,149,639 (GRCm39) G419D probably damaging Het
Zc3hav1 A T 6: 38,302,130 (GRCm39) H597Q probably benign Het
Zfp704 T C 3: 9,630,253 (GRCm39) E36G probably benign Het
Zfp9 A G 6: 118,444,202 (GRCm39) V47A 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
R6359:Gak UTSW 5 108,719,766 (GRCm39) missense probably damaging 1.00
R6468:Gak UTSW 5 108,771,202 (GRCm39) nonsense probably null
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'- TGCAGCTCCATCACTTAAAACTG -3'
(R):5'- TCTCCCAGACATCTGTAGTTAAC -3'

Sequencing Primer
(F):5'- CTGTACTTAAGTGGGGAAAATGGCTC -3'
(R):5'- GAAGAGCCTATGTTTGGC -3'
Posted On 2018-07-23