Incidental Mutation 'R6964:Rhoj'
ID541902
Institutional Source Beutler Lab
Gene Symbol Rhoj
Ensembl Gene ENSMUSG00000046768
Gene Nameras homolog family member J
SynonymsTC10L, TCL, 1110005O19Rik, Arhj
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6964 (G1)
Quality Score220.009
Status Not validated
Chromosome12
Chromosomal Location75308322-75401456 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 75375389 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 74 (Y74N)
Ref Sequence ENSEMBL: ENSMUSP00000113165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055390] [ENSMUST00000118602] [ENSMUST00000118966] [ENSMUST00000172981]
Predicted Effect probably damaging
Transcript: ENSMUST00000055390
AA Change: Y74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059498
Gene: ENSMUSG00000046768
AA Change: Y74N

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: Y74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112379
Gene: ENSMUSG00000046768
AA Change: Y74N

DomainStartEndE-ValueType
RHO 24 169 8.2e-75 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118966
AA Change: Y74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113165
Gene: ENSMUSG00000046768
AA Change: Y74N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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
A630089N07Rik A T 16: 98,065,759 Y334* probably null Het
Abcc2 A C 19: 43,798,076 I116L probably benign Het
Adamts17 T A 7: 66,909,400 Y313N possibly damaging Het
Adamts17 A G 7: 67,004,353 T444A probably benign Het
Adamtsl1 A G 4: 86,156,854 I153V probably damaging Het
Ambra1 C T 2: 91,917,416 Q1046* probably null Het
Ap1g2 A T 14: 55,099,265 V750D possibly damaging Het
Bcl7a T C 5: 123,369,456 probably null Het
C4bp A T 1: 130,657,272 L9Q probably damaging Het
Cadps2 A C 6: 23,583,459 V344G probably damaging Het
Car7 A G 8: 104,543,581 D15G possibly damaging Het
Cep126 G C 9: 8,112,100 H157Q probably null Het
Chst11 C T 10: 83,191,381 T214I probably damaging Het
Cntrob G A 11: 69,309,491 R526* probably null Het
Cul1 A G 6: 47,516,509 T445A probably benign Het
Dclre1c T C 2: 3,453,169 V363A possibly damaging Het
Ddx58 A G 4: 40,225,697 S235P probably benign Het
Dock10 T A 1: 80,503,648 probably benign Het
Donson A G 16: 91,681,219 Y465H probably benign Het
Eif3e G A 15: 43,272,289 A118V probably benign Het
Fam47e A T 5: 92,566,052 Q180L probably damaging Het
Fat1 T G 8: 45,043,945 C4156G probably damaging Het
Fermt2 A T 14: 45,465,142 I441K probably damaging Het
Frmd4b C T 6: 97,305,197 R510Q probably damaging Het
Fscn1 C T 5: 142,960,660 A71V probably damaging Het
Gfap G A 11: 102,896,957 A54V possibly damaging Het
Gjc3 C T 5: 137,957,497 M175I probably benign Het
Gm10645 C T 8: 83,165,952 probably benign Het
Haus5 G A 7: 30,657,615 P464S probably benign Het
Helz2 T A 2: 181,230,428 I2584F probably damaging Het
Mak T A 13: 41,032,591 I534L probably benign Het
Map3k9 T C 12: 81,773,003 D159G probably benign Het
Mcat A G 15: 83,547,931 probably benign Het
Meltf A G 16: 31,880,162 D30G probably benign Het
Ntng2 T A 2: 29,197,029 Y452F probably benign Het
Olfr1130 T C 2: 87,607,613 L75P probably damaging Het
Olfr1245 T A 2: 89,574,989 I246F probably benign Het
Olfr1474 T A 19: 13,471,361 Y130* probably null Het
Olfr473 A T 7: 107,933,759 I80L probably benign Het
Paip1 C T 13: 119,450,770 T390I possibly damaging Het
Pianp T A 6: 124,999,390 V54D possibly damaging Het
Ptprn T C 1: 75,260,649 D103G possibly damaging Het
Rhcg A G 7: 79,600,531 V268A probably benign Het
Snx13 A C 12: 35,119,789 T578P possibly damaging Het
Star T A 8: 25,811,823 H227Q probably benign Het
Stau2 A C 1: 16,390,005 M204R probably damaging Het
Steap4 A G 5: 7,975,568 Y43C probably damaging Het
Syt8 A G 7: 142,439,421 E21G probably benign Het
Tacr3 T C 3: 134,829,739 V156A probably damaging Het
Tmem106b C T 6: 13,082,423 T199M probably benign Het
Tmem131 T C 1: 36,796,292 T1583A probably damaging Het
Tom1 G A 8: 75,051,965 V87I probably null Het
Treml4 G T 17: 48,272,819 probably null Het
Ttn T C 2: 76,714,113 K32843R probably damaging Het
Wdr95 T G 5: 149,581,850 C223W probably damaging Het
Wipi1 C T 11: 109,603,764 R81Q probably benign Het
Zc3h7a G A 16: 11,149,224 T568I probably benign Het
Zfp287 A T 11: 62,724,817 I228N probably damaging Het
Zfp606 T A 7: 12,489,592 V10E probably damaging Het
Other mutations in Rhoj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Rhoj APN 12 75308906 missense probably damaging 1.00
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
R8546:Rhoj UTSW 12 75375350 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGAAGGTGGCTCAGACCATC -3'
(R):5'- AAGAATGCACATTTGGGTGTC -3'

Sequencing Primer
(F):5'- TTGGAAACCGTGCTGTCAAC -3'
(R):5'- CATTTGGGTAGAAAAATCTATGGGCC -3'
Posted On2018-11-28