Incidental Mutation 'R4971:Gak'
ID 384440
Institutional Source Beutler Lab
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Name cyclin G associated kinase
Synonyms D130045N16Rik
MMRRC Submission 042566-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4971 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108717277-108777621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108744672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 535 (Y535C)
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: Y535C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: Y535C

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 damaging
Transcript: ENSMUST00000139303
AA Change: Y8C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116862
Gene: ENSMUSG00000062234
AA Change: Y8C

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,190 (GRCm39) F1147L probably damaging Het
Abca2 T C 2: 25,332,006 (GRCm39) S1373P probably damaging Het
Abca9 A T 11: 110,042,874 (GRCm39) S392T probably benign Het
Abcd2 T C 15: 91,047,313 (GRCm39) D580G probably benign Het
Actl9 T A 17: 33,652,882 (GRCm39) L314H probably damaging Het
Adamtsl1 T C 4: 86,255,168 (GRCm39) F746L probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Cdkl3 T C 11: 51,901,995 (GRCm39) V68A possibly damaging Het
Cnot1 A G 8: 96,448,254 (GRCm39) F2266S probably damaging Het
Colq T C 14: 31,267,034 (GRCm39) R159G probably damaging Het
Ctse A T 1: 131,592,130 (GRCm39) D152V probably damaging Het
Cul7 G T 17: 46,970,045 (GRCm39) M1011I probably benign Het
Cyb5r4 G T 9: 86,939,224 (GRCm39) V336L possibly damaging Het
Dync2h1 A T 9: 7,131,949 (GRCm39) H1619Q probably benign Het
Eif2ak1 A G 5: 143,818,986 (GRCm39) K216E probably damaging Het
F5 A T 1: 164,021,755 (GRCm39) H1410L probably benign Het
Frem2 T C 3: 53,446,604 (GRCm39) Y2388C probably damaging Het
Fsip2 C T 2: 82,816,222 (GRCm39) T3985M probably benign Het
Gzmc G T 14: 56,469,826 (GRCm39) P158Q probably damaging Het
Hook3 A G 8: 26,572,607 (GRCm39) Y135H probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A T 6: 125,020,961 (GRCm39) M28L probably benign Het
Irs3 T A 5: 137,642,754 (GRCm39) D228V probably damaging Het
Jade1 T A 3: 41,555,836 (GRCm39) I301N probably damaging Het
Kif13b T A 14: 64,995,011 (GRCm39) M921K possibly damaging Het
Kmt2c A G 5: 25,515,870 (GRCm39) S2658P probably benign Het
Map3k4 A G 17: 12,468,382 (GRCm39) probably null Het
Map4k5 C T 12: 69,899,493 (GRCm39) V53I possibly damaging Het
Mdn1 T C 4: 32,739,827 (GRCm39) S3694P probably damaging Het
Mroh7 A G 4: 106,548,749 (GRCm39) V1038A probably benign Het
Muc5ac T C 7: 141,370,015 (GRCm39) V3185A possibly damaging Het
Mup5 T A 4: 61,751,297 (GRCm39) N117I probably benign Het
Myo19 T A 11: 84,783,023 (GRCm39) M179K probably damaging Het
Myo1c A G 11: 75,562,414 (GRCm39) Y902C probably damaging Het
Nf1 T A 11: 79,335,469 (GRCm39) I977K probably damaging Het
Nos1 T C 5: 118,081,899 (GRCm39) V1240A probably benign Het
Nr3c1 T C 18: 39,619,930 (GRCm39) D119G probably damaging Het
Oga C A 19: 45,758,485 (GRCm39) probably null Het
Or4c107 A T 2: 88,788,863 (GRCm39) N18Y probably damaging Het
Pdlim2 A G 14: 70,405,208 (GRCm39) V219A probably damaging Het
Pira13 T A 7: 3,825,805 (GRCm39) M355L probably benign Het
Polr1g T C 7: 19,091,487 (GRCm39) N207D probably benign Het
Prdx1 T C 4: 116,549,128 (GRCm39) probably null Het
Rbfox1 C T 16: 7,111,952 (GRCm39) R173C probably damaging Het
Rbp3 T A 14: 33,676,427 (GRCm39) V125D probably damaging Het
Resf1 T C 6: 149,227,097 (GRCm39) probably benign Het
Rhot1 T A 11: 80,124,300 (GRCm39) I154K probably damaging Het
Runx1t1 C T 4: 13,837,978 (GRCm39) R129C probably damaging Het
Setbp1 A G 18: 78,901,382 (GRCm39) S762P probably benign Het
Slc13a3 A G 2: 165,290,619 (GRCm39) I67T probably damaging Het
Tbc1d2b A T 9: 90,100,923 (GRCm39) M689K probably benign Het
Top2a T C 11: 98,884,667 (GRCm39) Y1517C probably damaging Het
Txndc2 A T 17: 65,945,849 (GRCm39) N109K probably damaging Het
Tyk2 A G 9: 21,031,797 (GRCm39) probably null Het
Wdfy3 A T 5: 102,096,838 (GRCm39) L320* probably null Het
Zfp456 T C 13: 67,514,995 (GRCm39) E237G probably benign Het
Zscan10 A G 17: 23,826,147 (GRCm39) E103G 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
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'- ACTTGTTAGGCACCTGTGGG -3'
(R):5'- CCTTAGCCACACAGATAGTTAGG -3'

Sequencing Primer
(F):5'- AAGCACAGTGATACTAACTTGGC -3'
(R):5'- GCCACACAGATAGTTAGGTTTATAGG -3'
Posted On 2016-04-27