Incidental Mutation 'R4630:Rtkn'
ID 349107
Institutional Source Beutler Lab
Gene Symbol Rtkn
Ensembl Gene ENSMUSG00000034930
Gene Name rhotekin
Synonyms
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83112485-83129560 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 83129163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 540 (K540*)
Ref Sequence ENSEMBL: ENSMUSP00000112501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000065512] [ENSMUST00000087938] [ENSMUST00000121093] [ENSMUST00000125894] [ENSMUST00000203203] [ENSMUST00000130622] [ENSMUST00000153148] [ENSMUST00000129316] [ENSMUST00000135490]
AlphaFold Q8C6B2
Predicted Effect probably benign
Transcript: ENSMUST00000032106
SMART Domains Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030

DomainStartEndE-ValueType
Pfam:DUF4639 6 571 3.7e-266 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032108
Predicted Effect probably null
Transcript: ENSMUST00000065512
AA Change: K553*
SMART Domains Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: K553*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000087938
AA Change: K540*
SMART Domains Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: K540*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000121093
AA Change: K540*
SMART Domains Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: K540*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146969
Predicted Effect probably benign
Transcript: ENSMUST00000203203
SMART Domains Protein: ENSMUSP00000145406
Gene: ENSMUSG00000030030

DomainStartEndE-ValueType
Pfam:DUF4639 6 82 1.4e-52 PFAM
low complexity region 90 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154625
Predicted Effect probably benign
Transcript: ENSMUST00000213056
Predicted Effect probably benign
Transcript: ENSMUST00000130622
SMART Domains Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930

DomainStartEndE-ValueType
Hr1 55 118 1.97e-12 SMART
Pfam:Anillin 135 217 2.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153148
SMART Domains Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032

DomainStartEndE-ValueType
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: ENSMUST00000129316
SMART Domains Protein: ENSMUSP00000120640
Gene: ENSMUSG00000034930

DomainStartEndE-ValueType
Blast:Hr1 1 49 6e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000135490
SMART Domains Protein: ENSMUSP00000116964
Gene: ENSMUSG00000034930

DomainStartEndE-ValueType
Blast:Hr1 1 49 2e-25 BLAST
Pfam:Anillin 66 221 1.8e-25 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null Het
Other mutations in Rtkn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGTTTACAGACCAGCCTGC -3'
(R):5'- ACTTAAGAGGGGTTTCCATTACC -3'

Sequencing Primer
(F):5'- TACAGACCAGCCTGCCTTGC -3'
(R):5'- GGTTTCCATTACCCCTCCCCAG -3'
Posted On 2015-10-08