Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Rtkn'

563922

Institutional Source

Beutler Lab

Gene Symbol

Rtkn

Ensembl Gene

ENSMUSG00000034930

Gene Name

rhotekin

Synonyms

MMRRC Submission

045313-MU

Accession Numbers

Essential gene?

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

Stock #

R7251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83112485-83129560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83112943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

Ref Sequence

ENSEMBL: ENSMUSP00000065571 (fasta)

Gene Model

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

AlphaFold

Q8C6B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065512
AA Change: N5S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: N5S

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 benign
Transcript: ENSMUST00000087938

SMART Domains

Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930

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: ENSMUST00000121093

SMART Domains

Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adamts19	A	T	18: 58,970,974 (GRCm39)	D186V	probably damaging	Het
Agrn	T	C	4: 156,259,063 (GRCm39)	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,497,019 (GRCm39)	C154S	probably damaging	Het
Apob	T	C	12: 8,057,037 (GRCm39)	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,269,200 (GRCm39)	E399G	possibly damaging	Het
Arg2	G	A	12: 79,197,572 (GRCm39)	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,119,481 (GRCm39)	V308A	probably damaging	Het
Atcay	A	T	10: 81,046,366 (GRCm39)	C319*	probably null	Het
Bend4	C	G	5: 67,584,876 (GRCm39)	R16P	unknown	Het
Braf	A	G	6: 39,654,504 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,828,898 (GRCm39)	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,693,494 (GRCm39)	G11D	probably damaging	Het
Cgn	T	C	3: 94,683,509 (GRCm39)	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,640,322 (GRCm39)	E294D	probably benign	Het
Cnn1	T	A	9: 22,019,513 (GRCm39)	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,134,646 (GRCm39)	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 26,857,144 (GRCm39)	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,051,511 (GRCm39)	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dgkb	T	C	12: 38,031,985 (GRCm39)	S16P	possibly damaging	Het
Dll4	T	C	2: 119,162,773 (GRCm39)	C465R	probably damaging	Het
Dsp	A	G	13: 38,377,524 (GRCm39)	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,681,370 (GRCm39)	N250S	probably benign	Het
Fsip2	G	A	2: 82,809,425 (GRCm39)	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319 (GRCm39)	V704M	probably damaging	Het
Hgf	T	A	5: 16,798,942 (GRCm39)	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,614,116 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,132,813 (GRCm39)	S204P	probably damaging	Het
Igsf10	T	A	3: 59,226,875 (GRCm39)	N2266I	probably damaging	Het
Krtap15-1	A	G	16: 88,625,982 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,408,423 (GRCm39)	D1751G	probably damaging	Het
Madd	A	T	2: 90,992,521 (GRCm39)	D1050E	probably benign	Het
Man1c1	C	T	4: 134,308,147 (GRCm39)	G323R	probably damaging	Het
Mgll	A	G	6: 88,800,357 (GRCm39)	E252G	probably benign	Het
Muc2	A	G	7: 141,278,965 (GRCm39)	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,218,599 (GRCm39)	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965 (GRCm38)	T384A	probably benign	Het
Nexn	T	C	3: 151,952,832 (GRCm39)	E310G	probably damaging	Het
Nol10	T	C	12: 17,452,108 (GRCm39)	L354P	probably damaging	Het
Npy4r	T	C	14: 33,868,872 (GRCm39)	R139G	probably damaging	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or14c44	T	C	7: 86,062,209 (GRCm39)	V213A	probably benign	Het
Or52a33	C	T	7: 103,288,909 (GRCm39)	G146D	probably damaging	Het
Or8j3c	G	A	2: 86,253,940 (GRCm39)	L27F	probably benign	Het
Pdzd8	A	T	19: 59,289,077 (GRCm39)	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,497 (GRCm39)		probably null	Het
Ppip5k1	T	A	2: 121,178,052 (GRCm39)	E283D	probably benign	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Raph1	A	G	1: 60,529,027 (GRCm39)	F745L	unknown	Het
Rgs19	C	T	2: 181,331,541 (GRCm39)	V88I	probably benign	Het
Ripk4	A	G	16: 97,544,449 (GRCm39)	S733P	probably benign	Het
Rprd1b	T	A	2: 157,870,899 (GRCm39)	W29R	probably damaging	Het
Sh3bp5l	A	T	11: 58,232,128 (GRCm39)	Q131L	probably damaging	Het
Slain2	T	A	5: 73,131,891 (GRCm39)	F461I	possibly damaging	Het
Stk24	A	T	14: 121,545,434 (GRCm39)	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,927,830 (GRCm39)		probably null	Het
Tapbpl	A	T	6: 125,203,558 (GRCm39)	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,698,341 (GRCm39)	I18V	possibly damaging	Het
Tecta	T	A	9: 42,299,048 (GRCm39)	I233F	probably damaging	Het
Tet3	A	G	6: 83,381,038 (GRCm39)	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262 (GRCm39)	S721P	probably benign	Het
Wnk4	C	A	11: 101,155,979 (GRCm39)	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 74,140,216 (GRCm39)	V336L	probably benign	Het
Zfp605	T	A	5: 110,275,826 (GRCm39)	S315T	probably damaging	Het
Zfp746	A	G	6: 48,041,811 (GRCm39)	L305P	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
R7155:Rtkn	UTSW	6	83,126,692 (GRCm39)	missense	probably damaging	0.99
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'- AAACTGTCGACCCAAACTGG -3'
(R):5'- AGCTAGAATAGACCCAGATCCTG -3'

Sequencing Primer
(F):5'- TCGACCCAAACTGGCTTGG -3'
(R):5'- CGACTCGCTGAAGAAACTA -3'

Posted On

2019-06-26