Incidental Mutation 'IGL01128:Gak'
ID 51158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Name cyclin G associated kinase
Synonyms D130045N16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01128
Quality Score
Status
Chromosome 5
Chromosomal Location 108717277-108777621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108740236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 560 (M560L)
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: M560L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: M560L

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
AA Change: M33L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000116862
Gene: ENSMUSG00000062234
AA Change: M33L

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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ahi1 A G 10: 20,950,332 (GRCm39) T128A probably benign Het
Bves T A 10: 45,229,944 (GRCm39) F249L probably damaging Het
Capns1 T C 7: 29,889,558 (GRCm39) I214V probably benign Het
Cgnl1 G T 9: 71,631,843 (GRCm39) Q503K possibly damaging Het
Ep300 A G 15: 81,514,207 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,177 (GRCm39) F337Y probably damaging Het
Fam178b A T 1: 36,683,435 (GRCm39) V95E probably damaging Het
Gna11 C A 10: 81,366,718 (GRCm39) A331S probably damaging Het
Gtf3c3 A C 1: 54,468,035 (GRCm39) F201V possibly damaging Het
Kat6b G A 14: 21,710,928 (GRCm39) R734H probably benign Het
Lag3 T C 6: 124,886,380 (GRCm39) D191G probably damaging Het
Mttp T A 3: 137,839,758 (GRCm39) probably null Het
Nlgn3 A T X: 100,363,698 (GRCm39) T790S probably benign Het
Or11g27 A G 14: 50,771,406 (GRCm39) D179G probably damaging Het
Or5b123 G A 19: 13,597,110 (GRCm39) E195K probably damaging Het
Pkd2l2 T A 18: 34,550,068 (GRCm39) Y238N probably damaging Het
Plg A T 17: 12,615,586 (GRCm39) probably benign Het
Ptprm A T 17: 67,349,096 (GRCm39) C376S probably damaging Het
Rexo1 T C 10: 80,385,573 (GRCm39) D495G probably benign Het
Rims1 A T 1: 22,573,256 (GRCm39) V315D probably damaging Het
Ros1 G A 10: 52,018,424 (GRCm39) Q745* probably null Het
Satb1 A G 17: 52,112,317 (GRCm39) V99A probably damaging Het
Sema3e C T 5: 14,282,129 (GRCm39) P422S probably damaging Het
Stkld1 G T 2: 26,841,483 (GRCm39) W476L probably benign Het
Syna T C 5: 134,588,334 (GRCm39) D205G probably damaging Het
Tas2r134 G T 2: 51,517,671 (GRCm39) C50F probably damaging Het
Togaram1 A G 12: 65,027,650 (GRCm39) T880A probably benign Het
Uckl1 T C 2: 181,212,130 (GRCm39) E363G probably damaging Het
Yeats2 T A 16: 19,980,718 (GRCm39) probably benign 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
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
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
Posted On 2013-06-21