Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02559:Gak'

298632

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gak

Ensembl Gene

ENSMUSG00000062234

Gene Name

cyclin G associated kinase

Synonyms

D130045N16Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

108569411-108629755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108584232 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
PTEN_C2	41	164	4.73e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145467

SMART Domains

Protein: ENSMUSP00000118713
Gene: ENSMUSG00000062234

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16