Incidental Mutation 'IGL02039:Rhoh'
ID 184635
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 # IGL02039
Quality Score
Status
Chromosome 5
Chromosomal Location 66018556-66054043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66049981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 84 (S84P)
Ref Sequence ENSEMBL: ENSMUSP00000143810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031106] [ENSMUST00000201533]
AlphaFold Q9D3G9
Predicted Effect probably damaging
Transcript: ENSMUST00000031106
AA Change: S84P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031106
Gene: ENSMUSG00000029204
AA Change: S84P

DomainStartEndE-ValueType
RHO 7 173 1.58e-90 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201533
AA Change: S84P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143810
Gene: ENSMUSG00000029204
AA Change: S84P

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,193 (GRCm39) Y2313* probably null Het
Arhgef12 A G 9: 42,883,563 (GRCm39) I1323T probably benign Het
C87436 A G 6: 86,430,677 (GRCm39) M366V probably benign Het
Cep290 T C 10: 100,350,464 (GRCm39) probably null Het
Cpsf3 T C 12: 21,351,457 (GRCm39) M326T probably damaging Het
Cpxm2 A G 7: 131,649,482 (GRCm39) V64A probably damaging Het
Csnka2ip G A 16: 64,298,957 (GRCm39) S25F probably damaging Het
Cyfip1 T C 7: 55,524,769 (GRCm39) F168L possibly damaging Het
Dhx8 T C 11: 101,654,853 (GRCm39) probably null Het
Dnah2 T A 11: 69,390,038 (GRCm39) I736F probably damaging Het
Erf T C 7: 24,943,969 (GRCm39) E454G possibly damaging Het
Flnc T C 6: 29,450,718 (GRCm39) V1482A probably benign Het
Fmn1 T C 2: 113,195,425 (GRCm39) L375P unknown Het
Foxm1 T C 6: 128,346,323 (GRCm39) Y85H probably damaging Het
Frem3 A G 8: 81,339,600 (GRCm39) E631G probably damaging Het
Fsip1 T C 2: 118,070,895 (GRCm39) D265G probably damaging Het
Gprc5c C T 11: 114,755,312 (GRCm39) Q330* probably null Het
Grin1 C T 2: 25,195,354 (GRCm39) V246M probably damaging Het
Ifitm3 C A 7: 140,590,563 (GRCm39) probably benign Het
Igdcc3 G A 9: 65,091,162 (GRCm39) V648I probably benign Het
Ighv5-2 A G 12: 113,542,214 (GRCm39) I87T probably benign Het
Imp4 G A 1: 34,482,849 (GRCm39) probably null Het
Ino80 T C 2: 119,210,554 (GRCm39) N1327D probably damaging Het
Kif5a T C 10: 127,069,736 (GRCm39) I830V possibly damaging Het
Muc5b A G 7: 141,424,901 (GRCm39) Y4696C possibly damaging Het
Nrl T C 14: 55,759,567 (GRCm39) E120G probably benign Het
Nsmaf T A 4: 6,424,995 (GRCm39) probably benign Het
Nup35 T C 2: 80,473,119 (GRCm39) M64T probably benign Het
Nxpe2 T A 9: 48,230,959 (GRCm39) N470I probably benign Het
Oga A T 19: 45,762,142 (GRCm39) V237E probably damaging Het
Or12d17 T A 17: 37,777,340 (GRCm39) I81N possibly damaging Het
Or9i1 C T 19: 13,840,083 (GRCm39) Q309* probably null Het
Os9 G A 10: 126,932,160 (GRCm39) P604S possibly damaging Het
Pitpnm1 A G 19: 4,155,032 (GRCm39) T287A probably benign Het
Pkd2l2 G T 18: 34,568,421 (GRCm39) probably null Het
Pola2 A T 19: 5,998,497 (GRCm39) I355N probably damaging Het
Pp2d1 T A 17: 53,823,022 (GRCm39) R15* probably null Het
Prpf40a T C 2: 53,034,815 (GRCm39) D749G probably damaging Het
Slc12a7 T C 13: 73,957,213 (GRCm39) probably null Het
Slc37a2 A G 9: 37,144,980 (GRCm39) I454T probably damaging Het
Smarca2 A G 19: 26,693,537 (GRCm39) D28G probably damaging Het
Socs4 T C 14: 47,527,650 (GRCm39) I195T probably benign Het
Svep1 A G 4: 58,123,980 (GRCm39) probably null Het
Thbd T C 2: 148,248,462 (GRCm39) T469A probably benign Het
Thoc5 T C 11: 4,872,027 (GRCm39) probably null Het
Vmn1r173 G T 7: 23,402,321 (GRCm39) M185I probably benign Het
Vmn1r59 T C 7: 5,457,380 (GRCm39) S127G probably benign Het
Vmn2r6 T C 3: 64,463,610 (GRCm39) E408G probably damaging Het
Yars1 A T 4: 129,109,052 (GRCm39) I428F probably damaging Het
Zglp1 T C 9: 20,978,335 (GRCm39) E14G possibly damaging Het
Other mutations in Rhoh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01978:Rhoh APN 5 66,050,031 (GRCm39) missense probably benign 0.06
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