Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02551:Rtkn'

298093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtkn

Ensembl Gene

ENSMUSG00000034930

Gene Name

rhotekin

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

83135463-83152579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83151924 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 454 (I454F)

Ref Sequence

ENSEMBL: ENSMUSP00000112501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000065512] [ENSMUST00000087938] [ENSMUST00000121093] [ENSMUST00000125894] [ENSMUST00000129316] [ENSMUST00000130622] [ENSMUST00000135490] [ENSMUST00000203203] [ENSMUST00000153148]

Predicted Effect

probably benign
Transcript: ENSMUST00000032106

SMART Domains

Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030

Domain	Start	End	E-Value	Type
Pfam:DUF4639	6	571	3.7e-266	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032108

Predicted Effect

probably damaging
Transcript: ENSMUST00000065512
AA Change: I467F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: I467F

Domain	Start	End	E-Value	Type
Hr1	36	99	5.65e-13	SMART
Pfam:Anillin	117	270	8.3e-46	PFAM
PH	310	418	2.3e-4	SMART
low complexity region	490	505	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000087938
AA Change: I454F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: I454F

Domain	Start	End	E-Value	Type
Hr1	23	86	1.62e-13	SMART
Pfam:Anillin	103	258	8e-25	PFAM
PH	297	405	2.3e-4	SMART
low complexity region	477	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121093
AA Change: I454F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: I454F

Domain	Start	End	E-Value	Type
Hr1	23	86	1.62e-13	SMART
Pfam:Anillin	103	258	8e-25	PFAM
PH	297	405	2.3e-4	SMART
low complexity region	477	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125894

SMART Domains

Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129316

SMART Domains

Protein: ENSMUSP00000120640
Gene: ENSMUSG00000034930

Domain	Start	End	E-Value	Type
Blast:Hr1	1	49	6e-27	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000130622

SMART Domains

Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930

Domain	Start	End	E-Value	Type
Hr1	55	118	1.97e-12	SMART
Pfam:Anillin	135	217	2.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133226

Predicted Effect

probably benign
Transcript: ENSMUST00000135490

SMART Domains

Protein: ENSMUSP00000116964
Gene: ENSMUSG00000034930

Domain	Start	End	E-Value	Type
Blast:Hr1	1	49	2e-25	BLAST
Pfam:Anillin	66	221	1.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154625

Predicted Effect

probably benign
Transcript: ENSMUST00000213056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203183

Predicted Effect

probably benign
Transcript: ENSMUST00000203203

SMART Domains

Protein: ENSMUSP00000145406
Gene: ENSMUSG00000030030

Domain	Start	End	E-Value	Type
Pfam:DUF4639	6	82	1.4e-52	PFAM
low complexity region	90	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153148

SMART Domains

Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
WD40	153	197	5.92e1	SMART
WD40	201	238	3.55e1	SMART
WD40	241	280	1.79e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Serinc2	T	C	4: 130,260,774	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly damaging	Het

Other mutations in Rtkn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Rtkn	APN	6	83146061	missense	probably damaging	1.00
IGL02265:Rtkn	APN	6	83147542	missense	probably damaging	1.00
IGL03028:Rtkn	APN	6	83147872	nonsense	probably null
IGL03388:Rtkn	APN	6	83150090	missense	probably benign	0.02
R1648:Rtkn	UTSW	6	83135994	missense	probably damaging	1.00
R2100:Rtkn	UTSW	6	83149560	splice site	probably null
R2517:Rtkn	UTSW	6	83147545	missense	probably damaging	1.00
R3608:Rtkn	UTSW	6	83150035	missense	probably damaging	0.97
R3946:Rtkn	UTSW	6	83135976	missense	probably benign	0.01
R4170:Rtkn	UTSW	6	83142395	start codon destroyed	probably null
R4630:Rtkn	UTSW	6	83152182	nonsense	probably null
R5044:Rtkn	UTSW	6	83150991	missense	probably benign	0.01
R5102:Rtkn	UTSW	6	83149773	missense	probably damaging	0.98
R6165:Rtkn	UTSW	6	83145963	missense	probably damaging	1.00
R6372:Rtkn	UTSW	6	83151901	missense	possibly damaging	0.96
R7101:Rtkn	UTSW	6	83150012	missense	possibly damaging	0.76
R7155:Rtkn	UTSW	6	83149711	missense	probably damaging	0.99
R7251:Rtkn	UTSW	6	83135962	missense	probably damaging	1.00
R7381:Rtkn	UTSW	6	83151745	missense	probably damaging	0.97
R7598:Rtkn	UTSW	6	83147903	missense	probably null	0.96
R7624:Rtkn	UTSW	6	83152177	missense	probably benign
R8306:Rtkn	UTSW	6	83151916	missense	probably damaging	1.00

Posted On

2015-04-16