Incidental Mutation 'IGL01978:Rhoh'
ID 181776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhoh
Ensembl Gene ENSMUSG00000029204
Gene Name ras homolog family member H
Synonyms 5830400A04Rik, Arhh
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01978
Quality Score
Status
Chromosome 5
Chromosomal Location 66018556-66054043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66050031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 100 (S100R)
Ref Sequence ENSEMBL: ENSMUSP00000143810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031106] [ENSMUST00000201533]
AlphaFold Q9D3G9
Predicted Effect probably benign
Transcript: ENSMUST00000031106
AA Change: S100R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031106
Gene: ENSMUSG00000029204
AA Change: S100R

DomainStartEndE-ValueType
RHO 7 173 1.58e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201533
AA Change: S100R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143810
Gene: ENSMUSG00000029204
AA Change: S100R

DomainStartEndE-ValueType
RHO 7 173 1.58e-90 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the differentiation of T cells and mast cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,453,164 (GRCm39) T6S probably damaging Het
Acot5 T C 12: 84,122,172 (GRCm39) V252A possibly damaging Het
Bmper A T 9: 23,292,737 (GRCm39) N349Y probably damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Col9a2 G A 4: 120,901,863 (GRCm39) G139E unknown Het
Cplane1 A T 15: 8,248,866 (GRCm39) N1805I probably damaging Het
Cyp2j8 A C 4: 96,392,246 (GRCm39) probably null Het
Dcbld2 A G 16: 58,284,682 (GRCm39) D612G probably benign Het
Dsc3 C T 18: 20,107,253 (GRCm39) R456Q possibly damaging Het
Fat2 T C 11: 55,160,972 (GRCm39) T3253A probably benign Het
Hoxc12 T A 15: 102,845,299 (GRCm39) H4Q probably damaging Het
Il6st A G 13: 112,633,891 (GRCm39) E445G possibly damaging Het
Ipo8 T C 6: 148,678,787 (GRCm39) E937G probably benign Het
Kif5a A C 10: 127,081,608 (GRCm39) D185E probably benign Het
Klhl38 T C 15: 58,178,485 (GRCm39) D495G probably damaging Het
Klra5 A G 6: 129,888,393 (GRCm39) V11A probably benign Het
Lrch1 G A 14: 75,023,782 (GRCm39) T581M probably damaging Het
Mecom A G 3: 30,017,315 (GRCm39) I450T probably damaging Het
Mrgprb2 C A 7: 48,202,312 (GRCm39) V138L probably damaging Het
Muc15 G A 2: 110,561,941 (GRCm39) A126T probably benign Het
Mybpc1 A T 10: 88,367,632 (GRCm39) I522K probably damaging Het
Nectin1 G A 9: 43,703,444 (GRCm39) R234H probably damaging Het
Or5b98 T C 19: 12,931,406 (GRCm39) F151S probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Pdia6 T A 12: 17,324,423 (GRCm39) H91Q possibly damaging Het
Pfkfb4 A T 9: 108,858,010 (GRCm39) H445L probably damaging Het
Pkd1l1 T C 11: 8,911,336 (GRCm39) T314A unknown Het
Rb1cc1 A G 1: 6,308,592 (GRCm39) D159G probably damaging Het
Rsbn1 T A 3: 103,868,816 (GRCm39) D618E probably damaging Het
Slc25a47 T C 12: 108,817,116 (GRCm39) V4A probably damaging Het
Svs3b T A 2: 164,098,541 (GRCm39) M1L probably benign Het
Thsd7a T C 6: 12,331,005 (GRCm39) N1379S probably benign Het
Tmed3 T C 9: 89,586,806 (GRCm39) D58G probably benign Het
Trh G A 6: 92,219,596 (GRCm39) A240V probably benign Het
Ubox5 A T 2: 130,442,372 (GRCm39) V105E probably benign Het
Vmn2r67 A G 7: 84,800,649 (GRCm39) probably null Het
Vps13c A G 9: 67,837,925 (GRCm39) H1825R probably benign Het
Wasf1 C A 10: 40,812,197 (GRCm39) P329T unknown Het
Wee2 T C 6: 40,432,087 (GRCm39) F219L probably damaging Het
Zp3r T C 1: 130,526,678 (GRCm39) D175G probably damaging Het
Other mutations in Rhoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Rhoh APN 5 66,049,981 (GRCm39) missense probably damaging 1.00
IGL02692:Rhoh APN 5 66,050,143 (GRCm39) missense probably benign 0.28
IGL03078:Rhoh APN 5 66,050,231 (GRCm39) missense probably damaging 1.00
hohenzollern UTSW 5 66,050,207 (GRCm39) missense probably damaging 0.99
R4059:Rhoh UTSW 5 66,049,931 (GRCm39) missense probably benign 0.10
R4662:Rhoh UTSW 5 66,050,157 (GRCm39) missense probably benign 0.00
R5370:Rhoh UTSW 5 66,049,921 (GRCm39) missense probably benign 0.01
R6968:Rhoh UTSW 5 66,049,862 (GRCm39) missense possibly damaging 0.94
R7130:Rhoh UTSW 5 66,050,207 (GRCm39) missense probably damaging 0.99
R9688:Rhoh UTSW 5 66,049,656 (GRCm39) start gained probably benign
Posted On 2014-05-07