Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Rtkn'

557213

Institutional Source

Beutler Lab

Gene Symbol

Rtkn

Ensembl Gene

ENSMUSG00000034930

Gene Name

rhotekin

Synonyms

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

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

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83112485-83129560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83126692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 297 (C297Y)

Ref Sequence

ENSEMBL: ENSMUSP00000065571 (fasta)

Gene Model

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

AlphaFold

Q8C6B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065512
AA Change: C297Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: C297Y

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: C284Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: C284Y

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: C284Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: C284Y

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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213056

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	probably 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
IGL02265:Rtkn	APN	6	83,124,523 (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
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

Predicted Primers

PCR Primer
(F):5'- GTACACATGACCTCACGCTC -3'
(R):5'- GAATATTGCCTCCCCAACCG -3'

Sequencing Primer
(F):5'- TCACGCTCACCAGTCATG -3'
(R):5'- GTCCCCCACTGACCCCATG -3'

Posted On

2019-06-26