Incidental Mutation 'IGL01538:Rtkn'
ID 90080
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 # IGL01538
Quality Score
Status
Chromosome 6
Chromosomal Location 83112485-83129560 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83123042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 68 (R68H)
Ref Sequence ENSEMBL: ENSMUSP00000112501 (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: R81H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930
AA Change: R81H

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 damaging
Transcript: ENSMUST00000087938
AA Change: R68H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930
AA Change: R68H

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 damaging
Transcript: ENSMUST00000121093
AA Change: R68H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930
AA Change: R68H

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 possibly damaging
Transcript: ENSMUST00000129316
AA Change: R31H

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120640
Gene: ENSMUSG00000034930
AA Change: R31H

DomainStartEndE-ValueType
Blast:Hr1 1 49 6e-27 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000130622
AA Change: R100H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122660
Gene: ENSMUSG00000034930
AA Change: R100H

DomainStartEndE-ValueType
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: R31H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116964
Gene: ENSMUSG00000034930
AA Change: R31H

DomainStartEndE-ValueType
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: 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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,708,032 (GRCm39) noncoding transcript Het
Abca3 G T 17: 24,595,447 (GRCm39) C328F possibly damaging Het
Aldh5a1 T C 13: 25,102,495 (GRCm39) N323D possibly damaging Het
Atp5f1c T C 2: 10,073,477 (GRCm39) Y32C probably damaging Het
Capn3 T G 2: 120,332,667 (GRCm39) probably null Het
Ccdc113 C A 8: 96,277,866 (GRCm39) D275E probably benign Het
Ccdc40 T A 11: 119,133,545 (GRCm39) F562I possibly damaging Het
Ccn6 A G 10: 39,034,306 (GRCm39) Y99H probably damaging Het
Cd96 T C 16: 45,929,490 (GRCm39) T152A possibly damaging Het
Cdh20 T A 1: 109,988,870 (GRCm39) D257E probably damaging Het
Cilp2 T C 8: 70,333,854 (GRCm39) D1048G probably benign Het
Clrn2 T G 5: 45,617,408 (GRCm39) L93R probably damaging Het
Crat C A 2: 30,299,978 (GRCm39) G134V probably damaging Het
Dis3 A T 14: 99,335,181 (GRCm39) N140K probably benign Het
Dmxl2 T A 9: 54,352,660 (GRCm39) probably benign Het
Dus1l T A 11: 120,683,905 (GRCm39) Q181L probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Gcc1 T A 6: 28,421,047 (GRCm39) H90L probably damaging Het
Gpr152 T A 19: 4,192,951 (GRCm39) V164E probably damaging Het
Grik3 A C 4: 125,587,829 (GRCm39) I650L possibly damaging Het
Gvin3 T C 7: 106,201,744 (GRCm39) D500G probably damaging Het
Gzmm A T 10: 79,530,896 (GRCm39) T233S probably benign Het
H2-Q4 T A 17: 35,602,288 (GRCm39) V341D probably benign Het
Igsf21 A G 4: 139,755,029 (GRCm39) probably benign Het
Kmt2d T C 15: 98,758,538 (GRCm39) probably benign Het
Kntc1 T G 5: 123,919,721 (GRCm39) V864G probably damaging Het
Lnx1 T C 5: 74,780,816 (GRCm39) E235G possibly damaging Het
Man2b1 G T 8: 85,824,059 (GRCm39) K985N probably benign Het
Map4k1 C A 7: 28,701,044 (GRCm39) P670Q probably damaging Het
Mapk8ip1 C A 2: 92,219,319 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,093 (GRCm39) Y178* probably null Het
Mrpl11 T A 19: 5,013,449 (GRCm39) probably null Het
Nup85 T C 11: 115,460,540 (GRCm39) S140P possibly damaging Het
Or14c44 T C 7: 86,062,167 (GRCm39) L199P possibly damaging Het
Or1j20 T C 2: 36,760,532 (GRCm39) probably benign Het
Or4k51 T A 2: 111,585,350 (GRCm39) V252E probably damaging Het
Or5w16 T C 2: 87,576,942 (GRCm39) V134A probably benign Het
Pcdhb2 T A 18: 37,428,375 (GRCm39) L116* probably null Het
Pdcd7 C A 9: 65,253,985 (GRCm39) R188S probably damaging Het
Pdk2 T C 11: 94,918,111 (GRCm39) Y374C probably damaging Het
Ppp1r12a G T 10: 108,069,882 (GRCm39) D224Y probably damaging Het
Ppp2r2d T A 7: 138,478,364 (GRCm39) Y169N probably damaging Het
Prcp A C 7: 92,559,421 (GRCm39) T162P probably benign Het
Prkd1 A G 12: 50,388,925 (GRCm39) S873P probably benign Het
Ptpn2 T C 18: 67,814,623 (GRCm39) T129A probably benign Het
Sall4 C T 2: 168,597,776 (GRCm39) D355N probably damaging Het
Scn7a A G 2: 66,534,196 (GRCm39) V493A probably benign Het
Sema4b G A 7: 79,865,444 (GRCm39) A140T probably damaging Het
Shisa6 C A 11: 66,108,654 (GRCm39) G408C possibly damaging Het
Slc7a9 G T 7: 35,153,589 (GRCm39) V197F probably damaging Het
Spata2 A T 2: 167,326,071 (GRCm39) D249E probably damaging Het
Stk36 T A 1: 74,672,797 (GRCm39) V1013E probably benign Het
Tcp10a T C 17: 7,610,899 (GRCm39) V336A probably damaging Het
Tfb2m A T 1: 179,365,409 (GRCm39) V185D possibly damaging Het
Tgm7 T A 2: 120,937,396 (GRCm39) Y76F probably benign Het
Tph1 T C 7: 46,303,177 (GRCm39) Y267C probably damaging Het
Trgv1 G A 13: 19,520,740 (GRCm39) probably benign Het
Ube2d1 A G 10: 71,091,656 (GRCm39) probably benign Het
Vmn2r12 C A 5: 109,239,716 (GRCm39) R282S probably damaging Het
Vps4a A G 8: 107,763,556 (GRCm39) D72G probably benign Het
Wipf2 T A 11: 98,781,629 (GRCm39) V56D possibly damaging Het
Zfp750 C A 11: 121,402,991 (GRCm39) V586L probably benign Het
Zfp831 A G 2: 174,486,399 (GRCm39) E358G possibly damaging Het
Other mutations in Rtkn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-03