Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Gak'

356198

Institutional Source

Beutler Lab

Gene Symbol

Gak

Ensembl Gene

ENSMUSG00000062234

Gene Name

cyclin G associated kinase

Synonyms

D130045N16Rik

MMRRC Submission

041951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108717277-108777621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108717743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1299 (Q1299L)

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 damaging
Transcript: ENSMUST00000046603
AA Change: Q1299L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: Q1299L

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

noncoding transcript
Transcript: ENSMUST00000133745

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

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

unknown
Transcript: ENSMUST00000156110
AA Change: Q601L

SMART Domains

Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: Q601L

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: ENSMUST00000199010

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

Meta Mutation Damage Score

0.1321

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Stxbp2	A	G	8: 3,682,521 (GRCm39)	S37G	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	probably benign	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
R1702:Gak	UTSW	5	108,754,242 (GRCm39)	splice site	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
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'- TTGTCCATGATGAATGCAGGG -3'
(R):5'- AGTGCTGGTAGTGCATCCTG -3'

Sequencing Primer
(F):5'- TCCATGATGAATGCAGGGATGATTG -3'
(R):5'- AGGCAGTTCCCAGGATGCTAG -3'

Posted On

2015-10-21