Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Gak'

189789

Institutional Source

Beutler Lab

Gene Symbol

Gak

Ensembl Gene

ENSMUSG00000062234

Gene Name

cyclin G associated kinase

Synonyms

D130045N16Rik

MMRRC Submission

039735-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108717277-108777621 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 108754242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: 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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,172,787 (GRCm39)	M134K	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dop1b	A	G	16: 93,544,509 (GRCm39)	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Eif2ak2	A	T	17: 79,164,063 (GRCm39)	I434N	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mars1	T	C	10: 127,145,948 (GRCm39)	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Sec24c	G	T	14: 20,736,641 (GRCm39)	G226V	probably null	Het
Septin11	T	A	5: 93,304,783 (GRCm39)	I200N	probably damaging	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	possibly damaging	Het

Other mutations in Gak

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Gak	APN	5	108,761,500 (GRCm39)	makesense	probably null
IGL00768:Gak	APN	5	108,724,520 (GRCm39)	missense	probably benign
IGL01128:Gak	APN	5	108,740,236 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTGTCCAGAGTTCAAGACCACC -3'
(R):5'- ATAGAGTTGCCCACTTGCCCAACC -3'

Sequencing Primer
(F):5'- GAGTTCAAGACCACCTGAGCC -3'
(R):5'- GGCCACTGCTTATAGACGAG -3'

Posted On

2014-05-14