Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Rtkn'

307706

Institutional Source

Beutler Lab

Gene Symbol

Rtkn

Ensembl Gene

ENSMUSG00000034930

Gene Name

rhotekin

Synonyms

MMRRC Submission

040827-MU

Accession Numbers

Essential gene?

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

Stock #

R3946 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

83112485-83129560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83112957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 10 (I10F)

Ref Sequence

ENSEMBL: ENSMUSP00000065571 (fasta)

Gene Model

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

AlphaFold

Q8C6B2

Predicted Effect

probably benign
Transcript: ENSMUST00000065512
AA Change: I10F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: I10F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,492,913 (GRCm39)	Q328R	probably damaging	Het
Agr3	C	A	12: 35,997,512 (GRCm39)		probably benign	Het
Brca2	T	A	5: 150,460,169 (GRCm39)	S481R	probably damaging	Het
Cabin1	T	G	10: 75,581,093 (GRCm39)	Q411P	probably damaging	Het
Calr3	A	G	8: 73,197,464 (GRCm39)	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,627,111 (GRCm39)	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,190,636 (GRCm39)	T442A	probably damaging	Het
Chn2	T	C	6: 54,246,411 (GRCm39)		probably benign	Het
Cic	C	A	7: 24,971,771 (GRCm39)	R501S	possibly damaging	Het
Coch	A	G	12: 51,648,595 (GRCm39)		probably null	Het
Defa25	G	A	8: 21,574,506 (GRCm39)	V17I	probably null	Het
Dglucy	T	C	12: 100,804,959 (GRCm39)		probably null	Het
Dtx1	T	G	5: 120,819,351 (GRCm39)	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,947,341 (GRCm39)	L171P	probably benign	Het
Fam135a	A	G	1: 24,069,475 (GRCm39)	S465P	probably damaging	Het
Gm14412	A	T	2: 177,006,478 (GRCm39)	C472*	probably null	Het
Gm7104	T	C	12: 88,252,812 (GRCm39)		noncoding transcript	Het
Got2	A	G	8: 96,614,858 (GRCm39)	S26P	probably benign	Het
H2-M11	A	G	17: 36,860,123 (GRCm39)	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,272,406 (GRCm39)	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,505,771 (GRCm39)	R114L	probably damaging	Het
Ilkap	A	C	1: 91,314,972 (GRCm39)	D124E	probably damaging	Het
Maco1	A	G	4: 134,531,792 (GRCm39)	Y626H	probably damaging	Het
Med6	T	C	12: 81,628,625 (GRCm39)	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,785,932 (GRCm39)	L719*	probably null	Het
Mmp23	T	C	4: 155,736,480 (GRCm39)	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,470,760 (GRCm39)	M32T	possibly damaging	Het
Ncstn	T	C	1: 171,895,061 (GRCm39)	E614G	probably benign	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Or4f15	G	A	2: 111,813,642 (GRCm39)	T259M	possibly damaging	Het
Otub2	T	A	12: 103,359,085 (GRCm39)	L58*	probably null	Het
Pcdhga12	G	A	18: 37,900,682 (GRCm39)	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,870,897 (GRCm39)	V242D	probably damaging	Het
Pex1	C	T	5: 3,676,084 (GRCm39)	L891F	probably damaging	Het
Pgm2	C	T	5: 64,269,404 (GRCm39)	T497I	probably benign	Het
Pikfyve	T	C	1: 65,235,840 (GRCm39)	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,855,654 (GRCm39)	K79T	probably benign	Het
Pin1	C	T	9: 20,566,660 (GRCm39)	R21W	probably damaging	Het
Prxl2c	T	C	13: 64,456,912 (GRCm39)	I104V	probably damaging	Het
Ptprq	A	G	10: 107,522,253 (GRCm39)		probably benign	Het
Rad17	G	A	13: 100,759,371 (GRCm39)	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,851,925 (GRCm39)	T249A	probably benign	Het
Scube2	T	A	7: 109,456,797 (GRCm39)	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,423,893 (GRCm39)	H514R	probably benign	Het
Serbp1	T	A	6: 67,249,204 (GRCm39)	D223E	probably benign	Het
Slc14a1	C	A	18: 78,154,607 (GRCm39)	V260L	probably benign	Het
Slc22a23	A	G	13: 34,367,109 (GRCm39)	I633T	probably damaging	Het
Stk19	A	T	17: 35,043,723 (GRCm39)		probably benign	Het
Svs5	T	C	2: 164,079,047 (GRCm39)	M287V	probably benign	Het
Syne3	T	A	12: 104,924,325 (GRCm39)	Q358L	probably damaging	Het
Synj1	A	G	16: 90,806,984 (GRCm39)	F58L	possibly damaging	Het
Tg	T	C	15: 66,545,872 (GRCm39)	V198A	probably damaging	Het
Tle4	A	T	19: 14,574,752 (GRCm39)	Y9N	probably damaging	Het
Tmx3	G	A	18: 90,542,459 (GRCm39)	A186T	possibly damaging	Het
Traf3	G	A	12: 111,221,679 (GRCm39)	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,375,167 (GRCm39)	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,059,107 (GRCm39)	H918L	probably damaging	Het
Ush2a	T	G	1: 188,460,701 (GRCm39)	V2654G	probably benign	Het
Vinac1	A	G	2: 128,881,521 (GRCm39)	L135P	probably damaging	Het
Vmn2r25	A	G	6: 123,817,057 (GRCm39)	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,734,109 (GRCm39)	D1330G	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
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

Predicted Primers

PCR Primer
(F):5'- TGTCGACCCAAACTGGCTTG -3'
(R):5'- CTTGAGCTAGAATAGACCCAGATC -3'

Sequencing Primer
(F):5'- AAACTGGCTTGGCACCC -3'
(R):5'- GCGACTCGCTGAAGAAA -3'

Posted On

2015-04-17