Mutagenetix > Incidental Mutations

Incidental Mutation 'R1403:Gak'

188602

Institutional Source

Beutler Lab

Gene Symbol

Gak

Ensembl Gene

ENSMUSG00000062234

Gene Name

cyclin G associated kinase

Synonyms

D130045N16Rik

MMRRC Submission

039465-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1403 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108569411-108629755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108591145 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 156 (K156M)

Ref Sequence

ENSEMBL: ENSMUSP00000116862 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046603
AA Change: K683I

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036705
Gene: ENSMUSG00000062234
AA Change: K683I

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 damaging
Transcript: ENSMUST00000139303
AA Change: K156M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116862
Gene: ENSMUSG00000062234
AA Change: K156M

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: K34I

SMART Domains

Protein: ENSMUSP00000115184
Gene: ENSMUSG00000062234
AA Change: K34I

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

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

unknown
Transcript: ENSMUST00000200204
AA Change: K46I

Meta Mutation Damage Score

0.5470

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253		probably benign	Het
AC238840.3	T	G	7: 38,867,921	I28L	probably benign	Het
Acsf2	G	T	11: 94,562,874	N420K	probably benign	Het
Adam26a	A	T	8: 43,569,192	C420*	probably null	Het
Afap1l1	T	C	18: 61,741,838	Y424C	probably damaging	Het
Agl	A	G	3: 116,782,597	V553A	probably benign	Het
Akr7a5	T	A	4: 139,318,123	M325K	probably damaging	Het
Akt3	C	T	1: 177,131,110		probably benign	Het
Aldh7a1	C	A	18: 56,559,269	E87*	probably null	Het
Arhgap29	A	G	3: 121,973,929	K7E	probably damaging	Het
Brca2	T	A	5: 150,542,649	D1959E	probably benign	Het
Cdc42se2	A	G	11: 54,720,366		probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chil5	G	T	3: 106,018,093	Q171K	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,811,650	I155F	probably damaging	Het
Dip2c	A	G	13: 9,553,264		probably null	Het
Ell	T	A	8: 70,591,488		probably benign	Het
Fam124b	T	C	1: 80,213,339	Y109C	possibly damaging	Het
Gm9797	C	A	10: 11,609,550		noncoding transcript	Het
Got1l1	C	G	8: 27,200,717		probably null	Het
Grm1	T	C	10: 11,080,135	D135G	probably benign	Het
Hrh3	T	G	2: 180,102,754	D131A	probably damaging	Het
Itpr1	A	T	6: 108,389,553	Q979L	probably null	Het
Kdm7a	C	A	6: 39,151,253		probably benign	Het
Klb	G	C	5: 65,348,746	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,581,891		probably null	Het
Ltbp4	T	C	7: 27,329,039	N266S	unknown	Het
Mgam	G	A	6: 40,666,881	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 47,235,638	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023	I115F	probably benign	Het
Mterf3	A	G	13: 66,929,880		probably benign	Het
Neurl1a	C	A	19: 47,253,711	N414K	probably damaging	Het
Nfkbiz	A	G	16: 55,816,470		probably benign	Het
Nrxn1	A	C	17: 90,643,053	L566R	probably benign	Het
Nsmce1	A	G	7: 125,467,855		probably benign	Het
Olfr483	T	A	7: 108,103,615	I102N	probably benign	Het
Prl7d1	A	T	13: 27,709,197	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,317,681	S509P	probably damaging	Het
Rnf126	C	T	10: 79,760,868	A239T	probably benign	Het
Rnf44	C	T	13: 54,682,008	E306K	probably damaging	Het
Rp1	T	C	1: 4,346,297	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,173,637		probably null	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Syt15	C	A	14: 34,221,202		probably benign	Het
Vcan	T	A	13: 89,688,484	E2980D	probably benign	Het
Vps13b	A	G	15: 35,709,122		probably benign	Het
Vwa2	C	T	19: 56,881,138	P2S	unknown	Het
Wdr77	G	A	3: 105,967,257	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,244,780	Y287*	probably null	Het
Zfp937	T	A	2: 150,238,948	Y299*	probably null	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
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
R6207:Gak	UTSW	5	108625029	critical splice donor site	probably null
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
X0064:Gak	UTSW	5	108613533	nonsense	probably null
Z1177:Gak	UTSW	5	108585352	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCATAAGGTCAGTCCAAAGGCATC -3'
(R):5'- GGCATCTTCTCTACTCACACCAAGC -3'

Sequencing Primer
(F):5'- AACTTGGGTCCTTCGTAAACTG -3'
(R):5'- CAGATTAGTTGGACCCAATCTGG -3'

Posted On

2014-05-09