Incidental Mutation 'IGL02559:Gak'
ID298632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Namecyclin G associated kinase
SynonymsD130045N16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02559
Quality Score
Status
Chromosome5
Chromosomal Location108569411-108629755 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 108584232 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 797 (E797K)
Ref Sequence ENSEMBL: ENSMUSP00000036705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046603] [ENSMUST00000135225] [ENSMUST00000139303] [ENSMUST00000145467] [ENSMUST00000199048]
Predicted Effect probably null
Transcript: ENSMUST00000046603
AA Change: E797K

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: E797K

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 probably benign
Transcript: ENSMUST00000156110
SMART Domains Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234

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 probably benign
Transcript: ENSMUST00000200204
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging Het
Other mutations in Gak
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Gak APN 5 108613634 makesense probably null
IGL00768:Gak APN 5 108576654 missense probably benign
IGL01128:Gak APN 5 108592370 missense probably damaging 0.97
IGL01557:Gak APN 5 108584337 missense probably damaging 1.00
PIT4449001:Gak UTSW 5 108580925 missense probably benign 0.00
R0030:Gak UTSW 5 108613547 nonsense probably null
R1403:Gak UTSW 5 108591145 missense probably damaging 1.00
R1403:Gak UTSW 5 108591145 missense probably damaging 1.00
R1530:Gak UTSW 5 108624193 missense probably damaging 0.97
R1646:Gak UTSW 5 108602854 missense probably damaging 1.00
R1699:Gak UTSW 5 108604377 nonsense probably null
R1702:Gak UTSW 5 108606376 splice site probably null
R1732:Gak UTSW 5 108576582 missense probably benign 0.28
R1738:Gak UTSW 5 108616976 missense probably damaging 1.00
R1772:Gak UTSW 5 108606892 missense probably damaging 1.00
R1792:Gak UTSW 5 108585531 nonsense probably null
R2068:Gak UTSW 5 108570225 missense probably benign
R2137:Gak UTSW 5 108606877 splice site probably null
R2138:Gak UTSW 5 108606877 splice site probably null
R2139:Gak UTSW 5 108606877 splice site probably null
R2904:Gak UTSW 5 108624214 missense possibly damaging 0.70
R3080:Gak UTSW 5 108613602 missense possibly damaging 0.90
R3773:Gak UTSW 5 108582672 missense probably benign 0.00
R4523:Gak UTSW 5 108576566 missense probably benign 0.22
R4665:Gak UTSW 5 108582960 missense probably benign
R4703:Gak UTSW 5 108569877 missense probably damaging 0.99
R4890:Gak UTSW 5 108580876 unclassified probably benign
R4951:Gak UTSW 5 108582718 missense probably benign
R4971:Gak UTSW 5 108596806 missense probably damaging 1.00
R5328:Gak UTSW 5 108617001 missense possibly damaging 0.94
R5436:Gak UTSW 5 108592352 missense possibly damaging 0.94
R5496:Gak UTSW 5 108576617 missense probably benign 0.00
R6207:Gak UTSW 5 108625029 critical splice donor site probably null
R6359:Gak UTSW 5 108571900 missense probably damaging 1.00
R6468:Gak UTSW 5 108623336 nonsense probably null
R6682:Gak UTSW 5 108598876 missense probably damaging 1.00
R6915:Gak UTSW 5 108602950 missense probably benign 0.20
R7403:Gak UTSW 5 108613535 missense probably benign 0.00
R7458:Gak UTSW 5 108583074 missense probably benign 0.00
R7522:Gak UTSW 5 108591199 missense possibly damaging 0.95
R7650:Gak UTSW 5 108584295 missense probably benign 0.00
X0064:Gak UTSW 5 108613533 nonsense probably null
Posted On2015-04-16