Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Gak'

503182

Institutional Source

Beutler Lab

Gene Symbol

Gak

Ensembl Gene

ENSMUSG00000062234

Gene Name

cyclin G associated kinase

Synonyms

D130045N16Rik

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108569411-108629755 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 108625029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046603] [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000135225] [ENSMUST00000145467] [ENSMUST00000146207] [ENSMUST00000199048] [ENSMUST00000199662]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000046603

SMART Domains

Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234

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: ENSMUST00000063272

SMART Domains

Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	31	121	7.3e-28	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	256	353	4.4e-36	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078323

SMART Domains

Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	31	121	7.3e-28	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	256	353	4.4e-36	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120327

SMART Domains

Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	32	121	1.5e-22	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	257	353	9.5e-27	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

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: 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

noncoding transcript
Transcript: ENSMUST00000145935

Predicted Effect

probably benign
Transcript: ENSMUST00000146207

SMART Domains

Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	32	121	5.4e-23	PFAM
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	185	207	N/A	INTRINSIC

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: ENSMUST00000199662

SMART Domains

Protein: ENSMUSP00000143646
Gene: ENSMUSG00000062234

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
low complexity region	33	50	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,830,893	P69S	probably damaging	Het
Abca15	A	G	7: 120,373,794	R864G	probably benign	Het
Acbd5	T	C	2: 23,069,478	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,777,390		probably null	Het
Ak3	T	A	19: 29,022,940	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,206,614		probably null	Het
Calcrl	T	C	2: 84,333,530	H439R	probably benign	Het
Casp7	T	A	19: 56,441,020	D279E	possibly damaging	Het
Cckar	A	G	5: 53,699,844	V337A	probably benign	Het
Cep85l	T	C	10: 53,281,555	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Homo
Commd7	T	C	2: 153,632,610	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,294,773	I365F	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dot1l	C	T	10: 80,786,443	A831V	probably benign	Het
Epcam	C	A	17: 87,640,436	N111K	probably damaging	Het
Etnk1	A	G	6: 143,180,798	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,281,950	E221V	probably damaging	Het
Fam189a2	T	C	19: 23,973,438	E593G	probably damaging	Het
Fbl	T	C	7: 28,174,853	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,896,530	Y82*	probably null	Het
Fer1l5	A	G	1: 36,385,160	K285R	probably damaging	Het
Foxn3	G	T	12: 99,196,310	T444K	probably damaging	Het
Gprc6a	T	C	10: 51,626,835	I311V	probably benign	Het
Hrg	T	C	16: 22,954,538		probably null	Het
Htatip2	G	A	7: 49,770,819	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,487,522		probably benign	Het
Kcnq2	T	C	2: 181,113,233	M174V	possibly damaging	Het
Krt39	G	T	11: 99,521,215	P15Q	probably damaging	Het
L1td1	G	A	4: 98,737,418	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,829,382	K88*	probably null	Het
Lims1	A	T	10: 58,394,564	K49M	possibly damaging	Het
Man2a1	T	C	17: 64,713,605	V792A	probably benign	Het
Mcm2	G	T	6: 88,885,862	D749E	probably benign	Het
Mdga1	G	A	17: 29,838,517	T775M	probably damaging	Het
Myb	A	G	10: 21,145,322	S403P	probably benign	Het
Nek6	T	C	2: 38,557,834	S37P	possibly damaging	Het
Olfr149	T	C	9: 39,702,310	H153R	probably benign	Het
Olfr310	A	C	7: 86,269,760	F10V	probably damaging	Het
Olfr622	A	G	7: 103,640,002	V46A	probably benign	Het
Olfr663	G	A	7: 104,703,611	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Prune2	T	A	19: 17,118,116	I328N	probably damaging	Het
Psap	T	A	10: 60,300,538	C484S	probably damaging	Het
Pus1	T	C	5: 110,777,714	D80G	probably benign	Het
Rasa3	T	C	8: 13,598,251	T138A	possibly damaging	Het
Scaf1	G	T	7: 45,007,623		probably benign	Het
Skap1	T	A	11: 96,704,133	Y143*	probably null	Het
Slc22a20	A	G	19: 5,985,941	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,329,064	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,189,125	T154I	possibly damaging	Het
Snai1	T	A	2: 167,538,309	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,210,735	M84K	probably benign	Het
Spop	G	T	11: 95,471,237	K31N	possibly damaging	Het
Surf1	T	C	2: 26,914,807	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,146,339	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,055,837	A67V	probably damaging	Het
Timd4	A	T	11: 46,815,526	M52L	probably damaging	Het
Trav16	A	T	14: 53,743,588	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,908	T147A	probably damaging	Het
Tulp1	A	T	17: 28,358,677		probably benign	Het
Ubqlnl	A	T	7: 104,148,708	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,421,248	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,758,628	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,406,505	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 42,260,192	H47L	probably benign	Het
Vwa5a	A	G	9: 38,722,672	E57G	probably damaging	Het
Zfp180	A	T	7: 24,105,085	R310*	probably null	Het
Zfp672	T	C	11: 58,317,523		probably benign	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
IGL02559:Gak	APN	5	108584232	missense	probably null	0.07
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
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
R7737:Gak	UTSW	5	108617008	missense	probably benign	0.15
R8437:Gak	UTSW	5	108609406	missense	probably benign	0.30
R8739:Gak	UTSW	5	108591738	missense	possibly damaging	0.65
R8954:Gak	UTSW	5	108629652	start gained	probably benign
X0064:Gak	UTSW	5	108613533	nonsense	probably null
Z1177:Gak	UTSW	5	108585352	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGAGCTCTCAACCCAAGTG -3'
(R):5'- TGACATAGAAATTGGGCTGCAG -3'

Sequencing Primer
(F):5'- CCAAGTGGGAGCTGTGAGC -3'
(R):5'- AAGTCATGGCACTGACCA -3'

Posted On

2018-02-27