Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02799:Tnk2'

392310

Institutional Source

Beutler Lab

Gene Symbol

Tnk2

Ensembl Gene

ENSMUSG00000022791

Gene Name

tyrosine kinase, non-receptor, 2

Synonyms

ACK1, Ack, P21cdc42Hs kinase, Pyk1, activated p21cdc42Hs kinase

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

IGL02799 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

32643874-32683493 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 32665881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000124585] [ENSMUST00000145627]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115123

SMART Domains

Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Blast:TyrKc	43	79	3e-14	BLAST
TyrKc	126	385	1.44e-129	SMART
SH3	391	447	1.52e-7	SMART
low complexity region	737	754	N/A	INTRINSIC
Pfam:Inhibitor_Mig-6	774	841	3e-30	PFAM
low complexity region	881	909	N/A	INTRINSIC
Pfam:UBA	957	995	1.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115124

SMART Domains

Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Blast:TyrKc	43	79	3e-14	BLAST
TyrKc	126	385	1.44e-129	SMART
SH3	391	447	1.52e-7	SMART
low complexity region	517	524	N/A	INTRINSIC
low complexity region	752	769	N/A	INTRINSIC
Pfam:Inhibitor_Mig-6	789	855	5.3e-29	PFAM
low complexity region	896	924	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115125

SMART Domains

Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Blast:TyrKc	43	79	3e-14	BLAST
TyrKc	126	385	1.44e-129	SMART
SH3	391	447	1.52e-7	SMART
low complexity region	737	754	N/A	INTRINSIC
Pfam:Inhibitor_Mig-6	774	841	7.2e-31	PFAM
low complexity region	881	909	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115126

SMART Domains

Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Blast:TyrKc	43	79	3e-14	BLAST
TyrKc	126	385	1.44e-129	SMART
SH3	391	447	1.52e-7	SMART
low complexity region	517	524	N/A	INTRINSIC
low complexity region	752	769	N/A	INTRINSIC
Pfam:Inhibitor_Mig-6	789	856	2.9e-30	PFAM
low complexity region	896	924	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141256

Predicted Effect

probably benign
Transcript: ENSMUST00000145627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164358

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,106,252	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,762,852	Y823*	probably null	Het
Atp2c1	A	C	9: 105,413,043		probably benign	Het
Capns1	A	T	7: 30,192,219	D133E	probably benign	Het
Cast	A	G	13: 74,736,752	V361A	probably damaging	Het
Cd69	G	A	6: 129,268,260		probably benign	Het
Celsr2	T	A	3: 108,414,062	D478V	probably damaging	Het
Cenpf	T	C	1: 189,659,652	E661G	probably damaging	Het
Chrna1	A	G	2: 73,574,641		probably benign	Het
Clec5a	C	A	6: 40,578,049	V138F	probably damaging	Het
Ctsj	T	A	13: 61,003,820	I95F	probably benign	Het
Dcaf1	T	A	9: 106,857,940	S696T	probably benign	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnajc14	C	T	10: 128,806,856	P216S	possibly damaging	Het
Dst	T	C	1: 34,179,849	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,815,806	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,301,181	L188Q	probably damaging	Het
Faap100	A	G	11: 120,370,735	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,772,596	S620T	probably benign	Het
Fhl2	C	T	1: 43,128,402	R177Q	probably benign	Het
Gars	C	A	6: 55,063,099	T337K	probably damaging	Het
Ggta1	A	T	2: 35,422,199	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062		probably benign	Het
Gpr108	T	A	17: 57,237,482	I343F	probably damaging	Het
Gpr12	T	A	5: 146,583,819	I98F	possibly damaging	Het
Hk2	A	G	6: 82,760,238	L3P	probably damaging	Het
Imp4	C	A	1: 34,440,177		probably benign	Het
Insrr	G	A	3: 87,813,581	V1049M	probably damaging	Het
Klhl24	T	C	16: 20,114,581	V314A	probably damaging	Het
Krt32	A	T	11: 100,087,907	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 142,296,505	Q189*	probably null	Het
Lrrc9	A	G	12: 72,506,404	E1360G	probably damaging	Het
Mdc1	G	T	17: 35,846,191	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,392,461		probably null	Het
Myh8	A	G	11: 67,301,592		probably benign	Het
Ndufab1	A	T	7: 122,093,726		probably benign	Het
Nek3	A	G	8: 22,158,719		probably benign	Het
Ngly1	A	T	14: 16,260,636	I107L	probably benign	Het
Nkain4	A	T	2: 180,935,935		probably null	Het
Nsd2	T	A	5: 33,864,788		probably benign	Het
Olfr1094	A	T	2: 86,828,956	H68L	probably damaging	Het
Olfr513	A	T	7: 108,755,623	M256L	probably benign	Het
Olfr732	A	G	14: 50,281,344	I303T	probably benign	Het
Olfr857	T	A	9: 19,713,018	Y64N	probably damaging	Het
Olfr874	T	A	9: 37,746,509	I125N	probably damaging	Het
Pcnt	G	A	10: 76,412,583	Q901*	probably null	Het
Pctp	C	A	11: 89,991,087	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,495,947	I801F	probably damaging	Het
Ptprj	A	T	2: 90,469,598	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,152,760	D670E	probably benign	Het
Racgap1	T	C	15: 99,632,747	K201E	probably benign	Het
Ranbp2	T	C	10: 58,480,264	F2269L	probably damaging	Het
Rint1	C	A	5: 23,819,480	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,665,962	P3166S	probably damaging	Het
Snap29	A	G	16: 17,422,503	N158D	probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
St6galnac1	G	T	11: 116,766,647		probably benign	Het
Strc	G	A	2: 121,379,236	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,494,600		probably null	Het
Syne1	A	T	10: 5,359,059	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,223,434		probably benign	Het
Tcfl5	A	T	2: 180,638,626	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,273,408	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 116,110,136	K233E	possibly damaging	Het
Trbv13-2	A	G	6: 41,121,537		probably benign	Het
Usp6nl	T	A	2: 6,427,549		probably benign	Het
Vmn2r62	A	G	7: 42,787,972	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,851,971	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,044,484	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,463,380	G170S	probably benign	Het
Zcchc11	T	C	4: 108,513,528	Y875H	probably benign	Het
Zfyve26	T	C	12: 79,273,310	E1087G	probably benign	Het

Other mutations in Tnk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Tnk2	APN	16	32680680	missense	probably damaging	0.99
IGL02212:Tnk2	APN	16	32680142	missense	probably damaging	0.97
IGL02445:Tnk2	APN	16	32675590	missense	probably benign	0.00
junior	UTSW	16	32680085	missense	probably benign
Rookie	UTSW	16	32679785	missense	probably damaging	1.00
R0310:Tnk2	UTSW	16	32680590	missense	probably benign
R0989:Tnk2	UTSW	16	32680358	missense	probably damaging	1.00
R1556:Tnk2	UTSW	16	32670919	critical splice donor site	probably null
R1851:Tnk2	UTSW	16	32679462	missense	probably damaging	1.00
R1854:Tnk2	UTSW	16	32680142	missense	probably damaging	0.97
R1938:Tnk2	UTSW	16	32663742	start gained	probably benign
R2137:Tnk2	UTSW	16	32670802	splice site	probably null
R2189:Tnk2	UTSW	16	32671421	missense	probably damaging	1.00
R3772:Tnk2	UTSW	16	32679822	missense	probably damaging	1.00
R4037:Tnk2	UTSW	16	32670796	missense	probably damaging	1.00
R4413:Tnk2	UTSW	16	32669501	missense	probably damaging	1.00
R4751:Tnk2	UTSW	16	32679857	missense	probably damaging	1.00
R4878:Tnk2	UTSW	16	32679630	missense	probably damaging	1.00
R4983:Tnk2	UTSW	16	32680465	missense	probably damaging	1.00
R5063:Tnk2	UTSW	16	32670850	missense	probably damaging	1.00
R5541:Tnk2	UTSW	16	32669523	missense	probably benign	0.07
R5759:Tnk2	UTSW	16	32680664	missense	probably benign
R5888:Tnk2	UTSW	16	32671367	missense	probably damaging	1.00
R6142:Tnk2	UTSW	16	32670099	missense	probably damaging	1.00
R6372:Tnk2	UTSW	16	32679785	missense	probably damaging	1.00
R6717:Tnk2	UTSW	16	32670869	missense	probably damaging	1.00
R6939:Tnk2	UTSW	16	32663878	missense	probably damaging	1.00
R7157:Tnk2	UTSW	16	32681168	missense	probably damaging	1.00
R7292:Tnk2	UTSW	16	32680800	missense	probably benign
R7362:Tnk2	UTSW	16	32675520	critical splice acceptor site	probably null
R7477:Tnk2	UTSW	16	32677891	splice site	probably null
R7558:Tnk2	UTSW	16	32680085	missense	probably benign
R7665:Tnk2	UTSW	16	32680526	missense	probably damaging	1.00
R7731:Tnk2	UTSW	16	32670134	missense	possibly damaging	0.69
R7867:Tnk2	UTSW	16	32681235	missense	probably damaging	0.99
R8011:Tnk2	UTSW	16	32668365	missense	probably benign	0.00
R8167:Tnk2	UTSW	16	32680262	missense	probably damaging	1.00
R8738:Tnk2	UTSW	16	32665900	missense	probably damaging	1.00
R9241:Tnk2	UTSW	16	32670098	missense	probably damaging	1.00
R9267:Tnk2	UTSW	16	32675671	missense	probably damaging	1.00
X0063:Tnk2	UTSW	16	32670850	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGGAGAGTTGGCGAGGTAAC -3'
(R):5'- TTATACCTCTGGGCAGCAGG -3'

Sequencing Primer
(F):5'- CTGCTTTGATGAGTAAACACCTCCAG -3'
(R):5'- CCTCTGGGCAGCAGGAGAAG -3'

Posted On

2016-06-09