Incidental Mutation 'R1530:Gak'
ID 166541
Institutional Source Beutler Lab
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Name cyclin G associated kinase
Synonyms D130045N16Rik
MMRRC Submission 039569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1530 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108569411-108629755 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108624193 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000036705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046603] [ENSMUST00000135225] [ENSMUST00000145467] [ENSMUST00000199048] [ENSMUST00000199662]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046603
AA Change: V86A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: V86A

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 possibly damaging
Transcript: ENSMUST00000135225
AA Change: V86A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118008
Gene: ENSMUSG00000062234
AA Change: V86A

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 possibly damaging
Transcript: ENSMUST00000145467
AA Change: V86A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118713
Gene: ENSMUSG00000062234
AA Change: V86A

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: ENSMUST00000145935
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: ENSMUST00000199662
SMART Domains Protein: ENSMUSP00000143646
Gene: ENSMUSG00000062234

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
low complexity region 33 50 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b T C 5: 137,569,378 (GRCm38) C425R probably damaging Het
Adam15 A G 3: 89,349,830 (GRCm38) S20P probably damaging Het
Adgra3 G A 5: 49,961,137 (GRCm38) T1023I probably benign Het
Angel2 T A 1: 190,939,088 (GRCm38) V46E probably damaging Het
Ankrd13c T A 3: 157,991,721 (GRCm38) M321K probably damaging Het
Atad2b C T 12: 4,942,018 (GRCm38) R206* probably null Het
Atp10b T A 11: 43,197,524 (GRCm38) F319Y probably benign Het
AW554918 A G 18: 25,400,104 (GRCm38) R272G probably damaging Het
Bpi T A 2: 158,261,145 (GRCm38) I70N probably damaging Het
Brca1 T C 11: 101,524,695 (GRCm38) D871G probably damaging Het
Capn3 G A 2: 120,482,208 (GRCm38) A160T probably damaging Het
Cenpe T C 3: 135,246,902 (GRCm38) L1451P possibly damaging Het
Chmp7 A G 14: 69,732,488 (GRCm38) M1T probably null Het
Csrnp1 G C 9: 119,973,546 (GRCm38) Q200E possibly damaging Het
Dscam G A 16: 96,819,874 (GRCm38) P545S probably damaging Het
Erap1 A G 13: 74,646,543 (GRCm38) E107G probably benign Het
Errfi1 A G 4: 150,865,386 (GRCm38) I49V probably benign Het
Fam171b T C 2: 83,880,189 (GRCm38) L735S probably damaging Het
Fancm T A 12: 65,092,490 (GRCm38) probably null Het
Fbp2 G C 13: 62,837,159 (GRCm38) P316R probably damaging Het
Fcer2a C A 8: 3,682,976 (GRCm38) G255V probably damaging Het
Fhip2a T A 19: 57,386,305 (GRCm38) I704N probably damaging Het
Fzd2 T C 11: 102,605,308 (GRCm38) S193P probably benign Het
Gas2l3 A G 10: 89,433,769 (GRCm38) I7T probably benign Het
Gbp11 T C 5: 105,327,489 (GRCm38) H331R probably damaging Het
Gpr19 C T 6: 134,869,998 (GRCm38) V241M probably damaging Het
Grk6 G A 13: 55,458,799 (GRCm38) A437T probably damaging Het
Hip1 T C 5: 135,444,780 (GRCm38) D253G probably damaging Het
Ifna9 G C 4: 88,592,172 (GRCm38) Q72E possibly damaging Het
Il1r1 A G 1: 40,312,361 (GRCm38) T384A probably benign Het
Ip6k1 C A 9: 108,045,562 (GRCm38) C221* probably null Het
Kcna1 C A 6: 126,642,531 (GRCm38) E275D probably benign Het
Kcnt2 C T 1: 140,484,232 (GRCm38) Q468* probably null Het
Kin T C 2: 10,092,339 (GRCm38) V333A probably damaging Het
Leprot G T 4: 101,656,287 (GRCm38) V91L probably benign Het
Mettl21c A G 1: 44,017,184 (GRCm38) probably null Het
Myom2 T C 8: 15,122,384 (GRCm38) F1161S probably damaging Het
Ndor1 A G 2: 25,248,909 (GRCm38) L321P probably benign Het
Nipal2 A T 15: 34,625,022 (GRCm38) *72K probably null Het
Nol3 T C 8: 105,279,226 (GRCm38) V84A probably benign Het
Or2y16 C T 11: 49,443,905 (GRCm38) S18L probably benign Het
Or4c101 A T 2: 88,559,483 (GRCm38) I5F probably benign Het
Or8b42 T C 9: 38,430,324 (GRCm38) I14T probably damaging Het
Pcare A G 17: 71,749,478 (GRCm38) V1068A probably benign Het
Pdgfra T A 5: 75,189,010 (GRCm38) probably null Het
Pik3cb T C 9: 99,053,973 (GRCm38) D802G probably damaging Het
Plac8l1 A T 18: 42,178,931 (GRCm38) V141E probably damaging Het
Plxnb2 A G 15: 89,167,192 (GRCm38) S275P probably benign Het
Prl3b1 G A 13: 27,243,865 (GRCm38) A53T probably benign Het
Rapgef6 T A 11: 54,661,183 (GRCm38) I959K probably damaging Het
Scn5a T C 9: 119,495,562 (GRCm38) K1400R probably damaging Het
Sel1l A G 12: 91,826,684 (GRCm38) S263P probably damaging Het
Setd5 G A 6: 113,109,913 (GRCm38) V34I probably damaging Het
Slc17a2 A G 13: 23,819,069 (GRCm38) D234G probably damaging Het
Spink5 T A 18: 44,015,671 (GRCm38) S934T probably damaging Het
St18 A C 1: 6,845,569 (GRCm38) probably null Het
St3gal4 T C 9: 35,052,296 (GRCm38) I239V probably benign Het
Stag3 C T 5: 138,297,412 (GRCm38) T399I probably damaging Het
Syt11 T C 3: 88,762,367 (GRCm38) K6E probably damaging Het
Taf15 T C 11: 83,487,296 (GRCm38) Y121H possibly damaging Het
Tdh T C 14: 63,496,055 (GRCm38) Y113C probably damaging Het
Tgfbr1 T A 4: 47,410,688 (GRCm38) W406R probably damaging Het
Tgm6 A G 2: 130,151,282 (GRCm38) I563V possibly damaging Het
Tmem131 A G 1: 36,827,009 (GRCm38) probably null Het
Tmub2 T C 11: 102,287,486 (GRCm38) S72P probably benign Het
Trappc13 G A 13: 104,150,143 (GRCm38) T202I probably damaging Het
Trim9 T C 12: 70,272,428 (GRCm38) E449G probably damaging Het
Trip11 C A 12: 101,912,767 (GRCm38) G21V unknown Het
Ttll12 G A 15: 83,588,655 (GRCm38) R127C probably damaging Het
Vmn2r125 A T 4: 156,351,152 (GRCm38) Y275F probably damaging Het
Xrcc5 A G 1: 72,329,944 (GRCm38) D319G probably damaging Het
Zc3h14 T G 12: 98,785,003 (GRCm38) C159W probably damaging Het
Zc3h7b C T 15: 81,777,088 (GRCm38) P376L probably benign Het
Zfhx3 C T 8: 108,948,489 (GRCm38) P2057L probably damaging Het
Other mutations in Gak
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Gak APN 5 108,613,634 (GRCm38) makesense probably null
IGL00768:Gak APN 5 108,576,654 (GRCm38) missense probably benign
IGL01128:Gak APN 5 108,592,370 (GRCm38) missense probably damaging 0.97
IGL01557:Gak APN 5 108,584,337 (GRCm38) missense probably damaging 1.00
IGL02559:Gak APN 5 108,584,232 (GRCm38) missense probably null 0.07
PIT4449001:Gak UTSW 5 108,580,925 (GRCm38) missense probably benign 0.00
R0030:Gak UTSW 5 108,613,547 (GRCm38) nonsense probably null
R1403:Gak UTSW 5 108,591,145 (GRCm38) missense probably damaging 1.00
R1403:Gak UTSW 5 108,591,145 (GRCm38) missense probably damaging 1.00
R1646:Gak UTSW 5 108,602,854 (GRCm38) missense probably damaging 1.00
R1699:Gak UTSW 5 108,604,377 (GRCm38) nonsense probably null
R1702:Gak UTSW 5 108,606,376 (GRCm38) splice site probably null
R1732:Gak UTSW 5 108,576,582 (GRCm38) missense probably benign 0.28
R1738:Gak UTSW 5 108,616,976 (GRCm38) missense probably damaging 1.00
R1772:Gak UTSW 5 108,606,892 (GRCm38) missense probably damaging 1.00
R1792:Gak UTSW 5 108,585,531 (GRCm38) nonsense probably null
R2068:Gak UTSW 5 108,570,225 (GRCm38) missense probably benign
R2137:Gak UTSW 5 108,606,877 (GRCm38) splice site probably null
R2138:Gak UTSW 5 108,606,877 (GRCm38) splice site probably null
R2139:Gak UTSW 5 108,606,877 (GRCm38) splice site probably null
R2904:Gak UTSW 5 108,624,214 (GRCm38) missense possibly damaging 0.70
R3080:Gak UTSW 5 108,613,602 (GRCm38) missense possibly damaging 0.90
R3773:Gak UTSW 5 108,582,672 (GRCm38) missense probably benign 0.00
R4523:Gak UTSW 5 108,576,566 (GRCm38) missense probably benign 0.22
R4665:Gak UTSW 5 108,582,960 (GRCm38) missense probably benign
R4703:Gak UTSW 5 108,569,877 (GRCm38) missense probably damaging 0.99
R4890:Gak UTSW 5 108,580,876 (GRCm38) unclassified probably benign
R4951:Gak UTSW 5 108,582,718 (GRCm38) missense probably benign
R4971:Gak UTSW 5 108,596,806 (GRCm38) missense probably damaging 1.00
R5328:Gak UTSW 5 108,617,001 (GRCm38) missense possibly damaging 0.94
R5436:Gak UTSW 5 108,592,352 (GRCm38) missense possibly damaging 0.94
R5496:Gak UTSW 5 108,576,617 (GRCm38) missense probably benign 0.00
R6207:Gak UTSW 5 108,625,029 (GRCm38) critical splice donor site probably null
R6359:Gak UTSW 5 108,571,900 (GRCm38) missense probably damaging 1.00
R6468:Gak UTSW 5 108,623,336 (GRCm38) nonsense probably null
R6682:Gak UTSW 5 108,598,876 (GRCm38) missense probably damaging 1.00
R6915:Gak UTSW 5 108,602,950 (GRCm38) missense probably benign 0.20
R7403:Gak UTSW 5 108,613,535 (GRCm38) missense probably benign 0.00
R7458:Gak UTSW 5 108,583,074 (GRCm38) missense probably benign 0.00
R7522:Gak UTSW 5 108,591,199 (GRCm38) missense possibly damaging 0.95
R7650:Gak UTSW 5 108,584,295 (GRCm38) missense probably benign 0.00
R7737:Gak UTSW 5 108,617,008 (GRCm38) missense probably benign 0.15
R8437:Gak UTSW 5 108,609,406 (GRCm38) missense probably benign 0.30
R8739:Gak UTSW 5 108,591,738 (GRCm38) missense possibly damaging 0.65
R8954:Gak UTSW 5 108,629,652 (GRCm38) start gained probably benign
X0064:Gak UTSW 5 108,613,533 (GRCm38) nonsense probably null
Z1177:Gak UTSW 5 108,585,352 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGGACAAAGTGGGACTCTCTTTGTG -3'
(R):5'- CCCTTTTCTTGTCAAGGGTGGGAC -3'

Sequencing Primer
(F):5'- GGGACTCTCTTTGTGATAACCAAC -3'
(R):5'- TAGTCAGTGGACCCTTAGACCAG -3'
Posted On 2014-04-13