Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02265:Rtkn'

286878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtkn

Ensembl Gene

ENSMUSG00000034930

Gene Name

rhotekin

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02265

Quality Score

Status

Chromosome

Chromosomal Location

83112485-83129560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83124523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 122 (C122Y)

Ref Sequence

ENSEMBL: ENSMUSP00000065571 (fasta)

Gene Model

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

AlphaFold

Q8C6B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065512
AA Change: C122Y

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

SMART Domains

Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: C122Y

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: C109Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: C109Y

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: C109Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: C109Y

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

possibly damaging
Transcript: ENSMUST00000129316
AA Change: C72Y

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120640
Gene: ENSMUSG00000034930
AA Change: C72Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130622
AA Change: C141Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930
AA Change: C141Y

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 damaging
Transcript: ENSMUST00000135490
AA Change: C72Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116964
Gene: ENSMUSG00000034930
AA Change: C72Y

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: ENSMUST00000203183

Predicted Effect

probably benign
Transcript: ENSMUST00000213056

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Eef1d	G	T	15: 75,775,283 (GRCm39)	D125E	probably benign	Het
Faap24	T	C	7: 35,095,689 (GRCm39)	I19V	probably benign	Het
Faf1	T	A	4: 109,600,101 (GRCm39)	S165R	probably benign	Het
Fry	A	G	5: 150,360,618 (GRCm39)	E75G	probably damaging	Het
Hyal1	A	G	9: 107,455,107 (GRCm39)	Q139R	probably benign	Het
Mapk13	T	C	17: 28,996,692 (GRCm39)		probably benign	Het
N4bp3	G	T	11: 51,534,645 (GRCm39)	Q473K	probably benign	Het
Oprk1	A	G	1: 5,672,871 (GRCm39)	N336S	probably damaging	Het
Or10ag58	G	A	2: 87,265,688 (GRCm39)	V286I	probably benign	Het
P4ha3	T	G	7: 99,943,139 (GRCm39)	F175V	probably benign	Het
Psmd13	C	T	7: 140,462,431 (GRCm39)	P16L	probably damaging	Het
Rbm24	A	G	13: 46,573,826 (GRCm39)	N82D	possibly damaging	Het
Serpini1	T	C	3: 75,526,576 (GRCm39)	I276T	probably damaging	Het
Vmn2r73	A	C	7: 85,520,847 (GRCm39)	F374V	probably benign	Het
Wasf1	A	G	10: 40,812,437 (GRCm39)	T409A	unknown	Het
Xirp2	A	T	2: 67,347,494 (GRCm39)	Q3245L	possibly damaging	Het

Other mutations in Rtkn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Rtkn	APN	6	83,123,042 (GRCm39)	missense	probably damaging	1.00
IGL02551:Rtkn	APN	6	83,128,905 (GRCm39)	missense	probably damaging	1.00
IGL03028:Rtkn	APN	6	83,124,853 (GRCm39)	nonsense	probably null
IGL03388:Rtkn	APN	6	83,127,071 (GRCm39)	missense	probably benign	0.02
R1648:Rtkn	UTSW	6	83,112,975 (GRCm39)	missense	probably damaging	1.00
R2100:Rtkn	UTSW	6	83,126,541 (GRCm39)	splice site	probably null
R2517:Rtkn	UTSW	6	83,124,526 (GRCm39)	missense	probably damaging	1.00
R3608:Rtkn	UTSW	6	83,127,016 (GRCm39)	missense	probably damaging	0.97
R3946:Rtkn	UTSW	6	83,112,957 (GRCm39)	missense	probably benign	0.01
R4170:Rtkn	UTSW	6	83,119,376 (GRCm39)	start codon destroyed	probably null
R4630:Rtkn	UTSW	6	83,129,163 (GRCm39)	nonsense	probably null
R5044:Rtkn	UTSW	6	83,127,972 (GRCm39)	missense	probably benign	0.01
R5102:Rtkn	UTSW	6	83,126,754 (GRCm39)	missense	probably damaging	0.98
R6165:Rtkn	UTSW	6	83,122,944 (GRCm39)	missense	probably damaging	1.00
R6372:Rtkn	UTSW	6	83,128,882 (GRCm39)	missense	possibly damaging	0.96
R7101:Rtkn	UTSW	6	83,126,993 (GRCm39)	missense	possibly damaging	0.76
R7155:Rtkn	UTSW	6	83,126,692 (GRCm39)	missense	probably damaging	0.99
R7251:Rtkn	UTSW	6	83,112,943 (GRCm39)	missense	probably damaging	1.00
R7381:Rtkn	UTSW	6	83,128,726 (GRCm39)	missense	probably damaging	0.97
R7598:Rtkn	UTSW	6	83,124,884 (GRCm39)	missense	probably null	0.96
R7624:Rtkn	UTSW	6	83,129,158 (GRCm39)	missense	probably benign
R8306:Rtkn	UTSW	6	83,128,897 (GRCm39)	missense	probably damaging	1.00
R8935:Rtkn	UTSW	6	83,115,196 (GRCm39)	missense	probably damaging	1.00
R9094:Rtkn	UTSW	6	83,128,018 (GRCm39)	missense	possibly damaging	0.92
R9169:Rtkn	UTSW	6	83,129,190 (GRCm39)	missense	probably damaging	1.00
R9252:Rtkn	UTSW	6	83,125,143 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16