Incidental Mutation 'IGL00336:Rhoj'
ID 4402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhoj
Ensembl Gene ENSMUSG00000046768
Gene Name ras homolog family member J
Synonyms TC10L, TCL, 1110005O19Rik, Arhj
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00336
Quality Score
Status
Chromosome 12
Chromosomal Location 75308322-75401456 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75308906 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 9 (G9V)
Ref Sequence ENSEMBL: ENSMUSP00000134552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055390] [ENSMUST00000118602] [ENSMUST00000118966] [ENSMUST00000172981]
AlphaFold Q9ER71
Predicted Effect probably damaging
Transcript: ENSMUST00000055390
AA Change: G28V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059498
Gene: ENSMUSG00000046768
AA Change: G28V

DomainStartEndE-ValueType
RHO 24 197 1.4e-109 SMART
low complexity region 198 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118602
AA Change: G28V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112379
Gene: ENSMUSG00000046768
AA Change: G28V

DomainStartEndE-ValueType
RHO 24 169 8.2e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118966
AA Change: G28V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113165
Gene: ENSMUSG00000046768
AA Change: G28V

DomainStartEndE-ValueType
RHO 24 167 2.13e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146096
Predicted Effect probably damaging
Transcript: ENSMUST00000172981
AA Change: G9V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134552
Gene: ENSMUSG00000046768
AA Change: G9V

DomainStartEndE-ValueType
Pfam:Ras 4 50 2.6e-12 PFAM
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 one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a slight delay in radial growth in the retina and empty basement membrane sleeves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Prss30 A T 17: 23,973,721 S162T probably benign Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Rhoj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02293:Rhoj APN 12 75375412 intron probably benign
R0133:Rhoj UTSW 12 75394420 critical splice acceptor site probably null
R4609:Rhoj UTSW 12 75400206 nonsense probably null
R5560:Rhoj UTSW 12 75391712 missense probably damaging 1.00
R5671:Rhoj UTSW 12 75393969 missense probably damaging 1.00
R5763:Rhoj UTSW 12 75391832 missense probably benign 0.00
R6828:Rhoj UTSW 12 75308879 missense probably benign
R6964:Rhoj UTSW 12 75375389 missense probably damaging 1.00
R8546:Rhoj UTSW 12 75375350 missense probably benign 0.05
R9038:Rhoj UTSW 12 75308926 missense
Posted On 2012-04-20