Mutagenetix > Incidental Mutation

Incidental Mutation 'R4951:Gak'

381969

Institutional Source

Beutler Lab

Gene Symbol

Gak

Ensembl Gene

ENSMUSG00000062234

Gene Name

cyclin G associated kinase

Synonyms

D130045N16Rik

MMRRC Submission

042548-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108717277-108777621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108730584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 941 (S941P)

Ref Sequence

ENSEMBL: ENSMUSP00000036705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046603] [ENSMUST00000135225] [ENSMUST00000139303] [ENSMUST00000145467] [ENSMUST00000199048]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046603
AA Change: S941P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: S941P

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

unknown
Transcript: ENSMUST00000156110
AA Change: S243P

SMART Domains

Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: S243P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (94/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,088,336 (GRCm39)	E452K	possibly damaging	Het
Adcy10	T	C	1: 165,391,532 (GRCm39)	L1263P	probably damaging	Het
Adgrg1	G	A	8: 95,731,874 (GRCm39)	V179M	probably damaging	Het
Agap1	T	A	1: 89,537,225 (GRCm39)	V77E	probably damaging	Het
Ahnak	A	T	19: 8,995,199 (GRCm39)	K5494N	probably damaging	Het
Arhgap19	A	G	19: 41,762,545 (GRCm39)	M437T	probably benign	Het
C2cd4c	C	A	10: 79,448,839 (GRCm39)	A103S	possibly damaging	Het
Clip1	A	T	5: 123,768,408 (GRCm39)	D776E	probably benign	Het
Cntn3	C	T	6: 102,145,986 (GRCm39)	V952M	possibly damaging	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Crtac1	C	T	19: 42,402,570 (GRCm39)	A13T	probably benign	Het
Ddx50	C	T	10: 62,469,899 (GRCm39)	A363T	probably damaging	Het
Dock9	A	G	14: 121,890,547 (GRCm39)	V241A	probably benign	Het
Dysf	T	C	6: 84,091,102 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,674,175 (GRCm39)	M375K	probably damaging	Het
Fam13c	G	A	10: 70,387,621 (GRCm39)		probably null	Het
Ftcd	C	T	10: 76,420,517 (GRCm39)	A417V	probably benign	Het
Ganc	A	G	2: 120,286,528 (GRCm39)	T786A	probably benign	Het
Gfi1	A	C	5: 107,868,009 (GRCm39)	S420A	probably damaging	Het
Ghsr	A	T	3: 27,426,510 (GRCm39)	T189S	possibly damaging	Het
Glb1l	C	T	1: 75,185,019 (GRCm39)	G122D	probably damaging	Het
Gm10065	C	T	13: 21,663,421 (GRCm39)	S64N	unknown	Het
Gm5087	C	A	14: 13,158,749 (GRCm38)		noncoding transcript	Het
Gm973	G	A	1: 59,580,633 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,449 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,044 (GRCm39)	Y781N	probably damaging	Het
Ide	G	A	19: 37,262,631 (GRCm39)	L695F	unknown	Het
Il17re	T	A	6: 113,445,868 (GRCm39)	V393E	probably damaging	Het
Lipo3	A	G	19: 33,759,621 (GRCm39)	V205A	probably benign	Het
Lipo5	C	T	19: 33,446,251 (GRCm39)	E49K	probably damaging	Het
Lonp1	A	T	17: 56,927,335 (GRCm39)	M306K	possibly damaging	Het
Lrig1	A	G	6: 94,640,959 (GRCm39)	L82P	probably damaging	Het
Lrp2	A	T	2: 69,366,332 (GRCm39)	C256S	probably damaging	Het
Map1b	A	T	13: 99,568,935 (GRCm39)	I1262K	unknown	Het
Mctp1	C	T	13: 76,975,894 (GRCm39)	P756S	probably damaging	Het
Mdn1	T	A	4: 32,707,459 (GRCm39)	W1583R	probably damaging	Het
Mis12	T	A	11: 70,916,473 (GRCm39)	Y169N	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msh5	G	A	17: 35,257,396 (GRCm39)	Q333*	probably null	Het
Necap2	A	T	4: 140,799,834 (GRCm39)		probably null	Het
Nfatc2	T	C	2: 168,412,992 (GRCm39)	D211G	probably damaging	Het
Nlrx1	A	G	9: 44,164,726 (GRCm39)	V906A	possibly damaging	Het
Or2ak7	G	A	11: 58,575,589 (GRCm39)	V297I	probably damaging	Het
Or4a2	T	A	2: 89,248,116 (GRCm39)	I214F	probably benign	Het
Or4l1	A	T	14: 50,166,515 (GRCm39)	L162*	probably null	Het
Or5b125-ps1	A	T	19: 13,056,620 (GRCm39)		noncoding transcript	Het
Or8g24	A	G	9: 38,989,555 (GRCm39)	F162S	probably benign	Het
Pate5	A	G	9: 35,750,732 (GRCm39)	V30A	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,287 (GRCm39)	N2057K	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,474 (GRCm39)	K1078R	possibly damaging	Het
Prdm11	A	G	2: 92,810,954 (GRCm39)	I215T	probably damaging	Het
Ptpn13	C	T	5: 103,735,912 (GRCm39)	P2137L	probably benign	Het
Rif1	T	A	2: 51,974,998 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,759,848 (GRCm39)	V1551A	probably benign	Het
Ror2	C	T	13: 53,271,183 (GRCm39)	V391I	probably benign	Het
Rps6ka2	A	T	17: 7,560,188 (GRCm39)	D542V	probably damaging	Het
Sema4g	A	G	19: 44,985,010 (GRCm39)		probably null	Het
Serpinb6d	T	G	13: 33,850,366 (GRCm39)	S64R	probably benign	Het
Serpine1	C	T	5: 137,098,205 (GRCm39)	R156K	probably benign	Het
Setdb2	A	G	14: 59,639,752 (GRCm39)	I713T	possibly damaging	Het
Slamf7	A	G	1: 171,466,693 (GRCm39)	F171L	probably benign	Het
Slc15a5	A	G	6: 138,050,064 (GRCm39)	L117S	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Slc8a3	T	A	12: 81,361,473 (GRCm39)	T449S	probably benign	Het
Smc2	G	A	4: 52,462,926 (GRCm39)	V639M	possibly damaging	Het
Sra1	A	T	18: 36,809,494 (GRCm39)	C223*	probably null	Het
Srgap1	A	T	10: 121,621,457 (GRCm39)	M1012K	probably benign	Het
Stk-ps2	A	T	1: 46,068,602 (GRCm39)		noncoding transcript	Het
Taar6	A	T	10: 23,861,106 (GRCm39)	S147T	probably benign	Het
Taf15	G	A	11: 83,375,637 (GRCm39)	G34D	possibly damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tob2	T	C	15: 81,735,924 (GRCm39)	Y15C	probably damaging	Het
Trim12a	A	G	7: 103,953,565 (GRCm39)	V182A	possibly damaging	Het
Trim67	A	G	8: 125,521,406 (GRCm39)	E256G	probably benign	Het
Trrap	T	A	5: 144,742,530 (GRCm39)	S1382T	possibly damaging	Het
Ttc39d	T	A	17: 80,523,462 (GRCm39)	S40R	probably benign	Het
Ttn	A	T	2: 76,779,406 (GRCm39)	V1158E	probably benign	Het
Vmn1r19	C	T	6: 57,381,927 (GRCm39)	T160I	probably benign	Het
Vmn2r100	T	C	17: 19,752,300 (GRCm39)	I781T	probably benign	Het
Vmn2r85	T	C	10: 130,261,113 (GRCm39)	E408G	probably damaging	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Wdr27	A	T	17: 15,096,395 (GRCm39)	D796E	probably damaging	Het
Zfp365	C	T	10: 67,725,821 (GRCm39)		probably null	Het
Zfp9	T	G	6: 118,441,408 (GRCm39)	H418P	probably 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
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
R4703:Gak	UTSW	5	108,717,743 (GRCm39)	missense	probably damaging	0.99
R4890:Gak	UTSW	5	108,728,742 (GRCm39)	unclassified	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'- TGTGAGCTGAGACCATTGG -3'
(R):5'- TGTTGATCTCCTGGGGCTAC -3'

Sequencing Primer
(F):5'- GTCACATGCGGTTTCTACAGAAG -3'
(R):5'- CTACACTCTGAGGGGGACTTAAG -3'

Posted On

2016-04-27