Incidental Mutation 'R5328:Gak'
ID 422129
Institutional Source Beutler Lab
Gene Symbol Gak
Ensembl Gene ENSMUSG00000062234
Gene Name cyclin G associated kinase
Synonyms D130045N16Rik
MMRRC Submission 042843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5328 (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 C at 108617001 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 145 (C145G)
Ref Sequence ENSEMBL: ENSMUSP00000036705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046603] [ENSMUST00000135225] [ENSMUST00000145467] [ENSMUST00000199048]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000046603
AA Change: C145G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: C145G

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: 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: ENSMUST00000145935
Predicted Effect silent
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,837,694 (GRCm38) V860E possibly damaging Het
Abcc6 T C 7: 45,992,311 (GRCm38) D881G probably benign Het
Abcc9 A G 6: 142,682,059 (GRCm38) V415A probably benign Het
Adgrb3 A C 1: 25,094,275 (GRCm38) N1003K possibly damaging Het
Adora3 C T 3: 105,907,303 (GRCm38) T123I probably benign Het
Amotl2 A C 9: 102,723,768 (GRCm38) T345P probably benign Het
Arap3 C T 18: 37,991,687 (GRCm38) E247K possibly damaging Het
Atp8b1 A T 18: 64,531,391 (GRCm38) D1235E probably benign Het
Axl A T 7: 25,773,411 (GRCm38) V400E probably damaging Het
Brd8 T A 18: 34,607,981 (GRCm38) N431Y probably benign Het
Cadps A T 14: 12,457,790 (GRCm38) N1025K probably benign Het
Cblc A T 7: 19,792,580 (GRCm38) S195T possibly damaging Het
Chd2 C T 7: 73,463,681 (GRCm38) A1184T possibly damaging Het
Chst10 G A 1: 38,895,962 (GRCm38) probably benign Het
Col12a1 T C 9: 79,620,060 (GRCm38) K2663E probably damaging Het
Cspg4 A T 9: 56,885,856 (GRCm38) I292L probably benign Het
Cul1 T C 6: 47,508,317 (GRCm38) V294A probably damaging Het
Cyp2d11 G A 15: 82,391,771 (GRCm38) P203L probably benign Het
Dscam T C 16: 96,673,678 (GRCm38) H1228R probably benign Het
Eif3l A T 15: 79,093,361 (GRCm38) K534* probably null Het
Enpep T C 3: 129,280,510 (GRCm38) E796G probably benign Het
Ext1 C A 15: 53,075,817 (GRCm38) W612L probably damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fam117a T A 11: 95,364,170 (GRCm38) probably null Het
Fan1 A T 7: 64,354,469 (GRCm38) Y750N probably damaging Het
Fat4 T A 3: 38,956,868 (GRCm38) I2039N probably damaging Het
Gabrr2 G T 4: 33,082,565 (GRCm38) D106Y probably damaging Het
Galnt14 A T 17: 73,505,459 (GRCm38) N406K possibly damaging Het
Gm10439 T G X: 149,636,163 (GRCm38) *434E probably null Het
Gm10837 G T 14: 122,490,778 (GRCm38) R22L unknown Het
Gm19965 T A 1: 116,821,418 (GRCm38) H276Q possibly damaging Het
Gm43517 T C 12: 49,391,156 (GRCm38) probably benign Het
Gm9733 T C 3: 15,332,174 (GRCm38) M17V unknown Het
Greb1l A T 18: 10,553,720 (GRCm38) I1574F probably damaging Het
Gzme G A 14: 56,117,767 (GRCm38) H236Y probably benign Het
Heatr5b G A 17: 78,826,362 (GRCm38) T266I possibly damaging Het
Hk3 T C 13: 55,013,493 (GRCm38) I185V probably benign Het
Hnrnpr A G 4: 136,339,216 (GRCm38) E302G probably benign Het
Itgal T C 7: 127,311,675 (GRCm38) probably null Het
Itk A G 11: 46,331,876 (GRCm38) S583P probably benign Het
Loxhd1 A T 18: 77,410,572 (GRCm38) I1448F probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,350,991 (GRCm38) probably null Het
Man2a2 A T 7: 80,368,756 (GRCm38) F118L probably benign Het
Mfsd5 T A 15: 102,281,012 (GRCm38) V273E probably damaging Het
Nfe2l2 A G 2: 75,676,856 (GRCm38) L300P probably damaging Het
Nt5c1a T G 4: 123,208,993 (GRCm38) L122R possibly damaging Het
Nt5c3b A G 11: 100,440,241 (GRCm38) F42S probably damaging Het
Olfr332 C A 11: 58,490,429 (GRCm38) A109S possibly damaging Het
Olfr577 T A 7: 102,973,968 (GRCm38) N8I possibly damaging Het
Pabpc1 A T 15: 36,602,877 (GRCm38) D204E probably benign Het
Panx2 A G 15: 89,068,095 (GRCm38) N255S probably damaging Het
Pcnt A G 10: 76,411,719 (GRCm38) L993P probably damaging Het
Pfas A T 11: 68,988,592 (GRCm38) C1160S probably damaging Het
Plekhh3 T A 11: 101,167,658 (GRCm38) probably benign Het
Plod3 T A 5: 136,989,683 (GRCm38) N258K probably damaging Het
Prr14l T C 5: 32,830,021 (GRCm38) Q710R probably benign Het
Rnf216 G T 5: 143,092,999 (GRCm38) T65K possibly damaging Het
Samd9l T C 6: 3,376,739 (GRCm38) E174G probably damaging Het
Sept12 T A 16: 4,993,993 (GRCm38) M63L possibly damaging Het
Sh3bgrl2 T A 9: 83,577,456 (GRCm38) D22E probably benign Het
Skil A G 3: 31,117,569 (GRCm38) K488R probably benign Het
Slamf6 T A 1: 171,938,095 (GRCm38) I262K probably benign Het
Slc27a3 T C 3: 90,386,832 (GRCm38) D470G probably damaging Het
Sorbs3 A T 14: 70,181,174 (GRCm38) V680E probably damaging Het
Sox9 C T 11: 112,782,658 (GRCm38) T25I probably benign Het
Srsf1 G T 11: 88,049,993 (GRCm38) probably benign Het
Stard9 A C 2: 120,699,230 (GRCm38) E1989D probably damaging Het
Thumpd2 T A 17: 81,044,162 (GRCm38) I277F possibly damaging Het
Tinag C A 9: 77,005,631 (GRCm38) G299* probably null Het
Tk2 A T 8: 104,229,299 (GRCm38) probably null Het
Tmem44 A G 16: 30,540,891 (GRCm38) S210P possibly damaging Het
Traf3ip1 C A 1: 91,520,069 (GRCm38) P423T probably damaging Het
Trmt12 A G 15: 58,872,855 (GRCm38) D34G probably damaging Het
Ttc39b A G 4: 83,261,941 (GRCm38) Y72H probably damaging Het
Ttn G A 2: 76,878,411 (GRCm38) probably benign Het
Ttyh2 T A 11: 114,710,068 (GRCm38) I381N possibly damaging Het
Uaca A T 9: 60,870,532 (GRCm38) N734Y probably benign Het
Usp34 T C 11: 23,464,616 (GRCm38) I2853T probably benign Het
Usp34 G A 11: 23,488,659 (GRCm38) G3407D probably benign Het
Vmn2r78 A G 7: 86,921,030 (GRCm38) Y252C probably damaging Het
Wdr19 G A 5: 65,244,179 (GRCm38) C979Y probably damaging Het
Wdr92 C A 11: 17,222,220 (GRCm38) P103Q probably damaging Het
Yeats2 A T 16: 20,171,205 (GRCm38) H277L probably damaging Het
Zbtb2 T C 10: 4,369,267 (GRCm38) Y253C possibly damaging Het
Zfat C A 15: 68,179,828 (GRCm38) G706C probably damaging Het
Zfp106 A T 2: 120,520,417 (GRCm38) N1584K possibly 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
R1530:Gak UTSW 5 108,624,193 (GRCm38) missense probably damaging 0.97
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
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'- CAAACGAGTAGGGCGCTATC -3'
(R):5'- TGTCGTCCTACAGGAGTTGAAG -3'

Sequencing Primer
(F):5'- GCTATCCCAAGGCAGGAGAAC -3'
(R):5'- GGTATGCACCCCAACTAAGG -3'
Posted On 2016-08-04