Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Gak'

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

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

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

noncoding transcript
Transcript: ENSMUST00000145935

Predicted Effect

silent
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: 99.3%
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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