Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Tnk2'

435990

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

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32643874-32683493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32669523 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 198 (T198I)

Ref Sequence

ENSEMBL: ENSMUSP00000110777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115120] [ENSMUST00000115121] [ENSMUST00000115122] [ENSMUST00000115123] [ENSMUST00000115124] [ENSMUST00000115125] [ENSMUST00000115126] [ENSMUST00000131238] [ENSMUST00000145627] [ENSMUST00000152361]

Predicted Effect

probably benign
Transcript: ENSMUST00000115120

SMART Domains

Protein: ENSMUSP00000110773
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
Pfam:GTPase_binding	1	24	1.1e-8	PFAM
low complexity region	247	264	N/A	INTRINSIC
Pfam:Inhibitor_Mig-6	284	351	2.9e-30	PFAM
low complexity region	391	419	N/A	INTRINSIC
Pfam:UBA	467	505	2.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115121

SMART Domains

Protein: ENSMUSP00000110774
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
Pfam:GTPase_binding	1	24	4.5e-9	PFAM
low complexity region	27	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115122

Predicted Effect

probably benign
Transcript: ENSMUST00000115123
AA Change: T198I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110776
Gene: ENSMUSG00000022791
AA Change: T198I

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
AA Change: T198I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110777
Gene: ENSMUSG00000022791
AA Change: T198I

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
AA Change: T198I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110778
Gene: ENSMUSG00000022791
AA Change: T198I

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
AA Change: T198I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110779
Gene: ENSMUSG00000022791
AA Change: T198I

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: ENSMUST00000131238

SMART Domains

Protein: ENSMUSP00000129382
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
Pfam:GTPase_binding	1	24	1e-9	PFAM

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

probably benign
Transcript: ENSMUST00000152361

SMART Domains

Protein: ENSMUSP00000125905
Gene: ENSMUSG00000022791

Domain	Start	End	E-Value	Type
SCOP:d1jo8a_	8	38	2e-3	SMART
Pfam:GTPase_binding	39	106	2.8e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164358

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	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
IGL02799:Tnk2	UTSW	16	32665881	splice site	probably benign
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
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
X0063:Tnk2	UTSW	16	32670850	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAAGGTCTAACGCCCTGC -3'
(R):5'- CAAAGATAACTCATGTCAAGGGC -3'

Sequencing Primer
(F):5'- TGAAGGTCTAACGCCCTGCTAATC -3'
(R):5'- CACATCTTGCCAGTGAGCAGTAG -3'

Posted On

2016-10-24