Incidental Mutation 'R0133:Rhoj'
ID 21779
Institutional Source Beutler Lab
Gene Symbol Rhoj
Ensembl Gene ENSMUSG00000046768
Gene Name ras homolog family member J
Synonyms 1110005O19Rik, TCL, Arhj, TC10L
MMRRC Submission 038418-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0133 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 75355096-75448230 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 75441194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055390] [ENSMUST00000118602] [ENSMUST00000118602] [ENSMUST00000118966] [ENSMUST00000172981]
AlphaFold Q9ER71
Predicted Effect probably benign
Transcript: ENSMUST00000055390
SMART Domains Protein: ENSMUSP00000059498
Gene: ENSMUSG00000046768

DomainStartEndE-ValueType
RHO 24 197 1.4e-109 SMART
low complexity region 198 211 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118602
SMART Domains Protein: ENSMUSP00000112379
Gene: ENSMUSG00000046768

DomainStartEndE-ValueType
RHO 24 169 8.2e-75 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118602
SMART Domains Protein: ENSMUSP00000112379
Gene: ENSMUSG00000046768

DomainStartEndE-ValueType
RHO 24 169 8.2e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118966
SMART Domains Protein: ENSMUSP00000113165
Gene: ENSMUSG00000046768

DomainStartEndE-ValueType
RHO 24 167 2.13e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172981
SMART Domains Protein: ENSMUSP00000134552
Gene: ENSMUSG00000046768

DomainStartEndE-ValueType
Pfam:Ras 4 50 2.6e-12 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.4%
Validation Efficiency 99% (83/84)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T C 11: 102,996,214 (GRCm39) S172P probably damaging Het
Akap6 A T 12: 53,186,254 (GRCm39) K1223* probably null Het
Akna G A 4: 63,297,598 (GRCm39) Q819* probably null Het
Ankrd2 T C 19: 42,032,510 (GRCm39) V257A probably benign Het
Arap1 T A 7: 101,035,436 (GRCm39) D30E probably damaging Het
Atp6v0d2 T C 4: 19,910,578 (GRCm39) probably benign Het
Blm T A 7: 80,152,115 (GRCm39) I611F possibly damaging Het
Ccng2 A G 5: 93,421,240 (GRCm39) K250R probably benign Het
Cdhr3 A G 12: 33,142,751 (GRCm39) L8P possibly damaging Het
Csf2rb T G 15: 78,223,204 (GRCm39) probably benign Het
Ctbs A G 3: 146,163,223 (GRCm39) I204V probably benign Het
Cxcl16 T A 11: 70,349,596 (GRCm39) E76D possibly damaging Het
Dhx15 T C 5: 52,311,414 (GRCm39) I689V possibly damaging Het
Dlk2 T C 17: 46,609,868 (GRCm39) probably benign Het
Dnah2 A T 11: 69,311,835 (GRCm39) M4452K probably damaging Het
Dok4 T A 8: 95,591,991 (GRCm39) I280F probably benign Het
Dsc3 T C 18: 20,104,639 (GRCm39) T563A probably damaging Het
Dsg1b C T 18: 20,537,935 (GRCm39) A617V probably damaging Het
Eps8l2 C T 7: 140,942,120 (GRCm39) P721S unknown Het
Evx2 T C 2: 74,489,426 (GRCm39) D112G possibly damaging Het
Fam124a C A 14: 62,843,782 (GRCm39) T430K possibly damaging Het
Fbrs C T 7: 127,088,782 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,647 (GRCm39) T22A probably benign Het
Fmo5 T G 3: 97,552,952 (GRCm39) V300G probably damaging Het
Gadl1 T C 9: 115,770,411 (GRCm39) S75P probably benign Het
Galnt2 T G 8: 125,065,277 (GRCm39) I469S probably benign Het
Gga3 T A 11: 115,479,805 (GRCm39) probably benign Het
Gm10647 T C 9: 66,705,771 (GRCm39) probably benign Het
Gm14180 C A 11: 99,625,043 (GRCm39) C25F unknown Het
Grid2 A T 6: 64,297,116 (GRCm39) D493V probably damaging Het
Gzmc T A 14: 56,469,754 (GRCm39) Y182F possibly damaging Het
Hecw2 A C 1: 53,869,899 (GRCm39) L1443R probably damaging Het
Igkv4-62 A G 6: 69,377,053 (GRCm39) I32T probably benign Het
Ikzf1 T A 11: 11,691,015 (GRCm39) probably null Het
Il27ra G A 8: 84,760,571 (GRCm39) probably benign Het
Jmjd1c C A 10: 67,076,587 (GRCm39) A2137D probably benign Het
Kcnc2 T C 10: 112,294,502 (GRCm39) C579R probably damaging Het
Kdr T C 5: 76,112,498 (GRCm39) T862A probably damaging Het
Kif17 T C 4: 138,005,556 (GRCm39) S182P possibly damaging Het
Klf5 A T 14: 99,539,318 (GRCm39) T164S probably benign Het
Ksr2 T G 5: 117,693,359 (GRCm39) V269G possibly damaging Het
Mcm5 T A 8: 75,847,539 (GRCm39) D445E probably damaging Het
Mlkl T C 8: 112,054,580 (GRCm39) I186V probably damaging Het
Muc4 A T 16: 32,591,978 (GRCm39) S3017C possibly damaging Het
Myo15a T C 11: 60,368,676 (GRCm39) F479L possibly damaging Het
Myo6 A G 9: 80,181,257 (GRCm39) probably benign Het
Myom1 T A 17: 71,354,782 (GRCm39) V393E probably damaging Het
Nup98 T A 7: 101,788,859 (GRCm39) probably null Het
Odf2l A G 3: 144,854,302 (GRCm39) N383S probably damaging Het
Olfml3 A C 3: 103,644,342 (GRCm39) probably null Het
Or10q1 T A 19: 13,727,352 (GRCm39) I294N probably damaging Het
Or7g17 G A 9: 18,767,925 (GRCm39) M1I probably null Het
Or8g18 A G 9: 39,149,307 (GRCm39) Y141H probably benign Het
Or8j3b A T 2: 86,205,159 (GRCm39) V199E possibly damaging Het
Plxna4 A T 6: 32,174,009 (GRCm39) D1195E probably benign Het
Ppp1r1a T A 15: 103,446,247 (GRCm39) H20L probably damaging Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Prom2 A G 2: 127,380,258 (GRCm39) probably benign Het
Rasal3 T C 17: 32,622,357 (GRCm39) M1V probably null Het
Rnf40 C T 7: 127,196,032 (GRCm39) probably null Het
Slc15a3 T C 19: 10,820,614 (GRCm39) L77P probably damaging Het
Slc26a6 T C 9: 108,738,522 (GRCm39) V586A possibly damaging Het
Slc30a10 T A 1: 185,187,370 (GRCm39) L37Q probably damaging Het
Slc43a2 T A 11: 75,454,403 (GRCm39) M316K probably benign Het
Smarcal1 T C 1: 72,672,010 (GRCm39) F844L probably benign Het
Snx19 A G 9: 30,339,912 (GRCm39) E350G possibly damaging Het
Tecta T A 9: 42,278,524 (GRCm39) T995S probably benign Het
Tmc3 T G 7: 83,261,681 (GRCm39) N586K probably damaging Het
Tmem107 T A 11: 68,963,239 (GRCm39) probably benign Het
Tmem247 A G 17: 87,225,989 (GRCm39) Q51R probably benign Het
Tmpo G T 10: 90,999,900 (GRCm39) probably benign Het
Ubr5 T A 15: 37,996,815 (GRCm39) T1894S probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Xirp2 T A 2: 67,347,468 (GRCm39) H3236Q probably benign Het
Zfand4 G A 6: 116,291,700 (GRCm39) D545N probably benign Het
Zkscan3 G T 13: 21,578,944 (GRCm39) P155T possibly damaging Het
Other mutations in Rhoj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Rhoj APN 12 75,355,680 (GRCm39) missense probably damaging 1.00
IGL02293:Rhoj APN 12 75,422,186 (GRCm39) intron probably benign
R4609:Rhoj UTSW 12 75,446,980 (GRCm39) nonsense probably null
R5560:Rhoj UTSW 12 75,438,486 (GRCm39) missense probably damaging 1.00
R5671:Rhoj UTSW 12 75,440,743 (GRCm39) missense probably damaging 1.00
R5763:Rhoj UTSW 12 75,438,606 (GRCm39) missense probably benign 0.00
R6828:Rhoj UTSW 12 75,355,653 (GRCm39) missense probably benign
R6964:Rhoj UTSW 12 75,422,163 (GRCm39) missense probably damaging 1.00
R8546:Rhoj UTSW 12 75,422,124 (GRCm39) missense probably benign 0.05
R9038:Rhoj UTSW 12 75,355,700 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCCTTAAACTGCAAGGTGTTTCCG -3'
(R):5'- GGGTAATTCCAGCTTCGCTCTGTC -3'

Sequencing Primer
(F):5'- GTCCTTGTTCTACAAGAGCTAGAAG -3'
(R):5'- TGTCAGACAGCCACTTAGATTC -3'
Posted On 2013-04-12