Incidental Mutation 'IGL01612:Rhod'
ID 92168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhod
Ensembl Gene ENSMUSG00000041845
Gene Name ras homolog family member D
Synonyms Arhd
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL01612
Quality Score
Status
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4476247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 168 (Y168C)
Ref Sequence ENSEMBL: ENSMUSP00000036031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048197] [ENSMUST00000117462]
AlphaFold P97348
Predicted Effect probably damaging
Transcript: ENSMUST00000048197
AA Change: Y168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: Y168C

DomainStartEndE-ValueType
RHO 20 193 3.46e-114 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117462
SMART Domains Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845

DomainStartEndE-ValueType
RHO 20 167 1.09e-79 SMART
low complexity region 176 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151420
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,988 (GRCm39) T1326A possibly damaging Het
Afg3l1 C T 8: 124,221,592 (GRCm39) R484C probably benign Het
Atg2a C A 19: 6,302,514 (GRCm39) Q946K probably benign Het
Cdh20 T C 1: 104,921,895 (GRCm39) Y731H probably benign Het
Cdk15 A G 1: 59,328,932 (GRCm39) D282G possibly damaging Het
Ctnnd2 T C 15: 31,005,164 (GRCm39) S1073P probably damaging Het
Dnah2 T C 11: 69,355,889 (GRCm39) probably benign Het
Evi2a T A 11: 79,417,978 (GRCm39) R211W probably damaging Het
Fmo1 T A 1: 162,661,168 (GRCm39) I372F probably benign Het
Glyctk T C 9: 106,032,471 (GRCm39) D514G probably damaging Het
Gmnc G A 16: 26,779,069 (GRCm39) Q313* probably null Het
Grik1 T C 16: 87,743,623 (GRCm39) T520A probably damaging Het
Gtsf2 A T 15: 103,353,340 (GRCm39) C9S probably damaging Het
Ift80 T G 3: 68,870,996 (GRCm39) N200T possibly damaging Het
Ints1 A G 5: 139,742,047 (GRCm39) S1771P probably benign Het
Lrba A G 3: 86,683,484 (GRCm39) T2769A possibly damaging Het
Lrfn2 G T 17: 49,377,425 (GRCm39) V169L possibly damaging Het
Mei1 G A 15: 81,973,753 (GRCm39) R80H probably damaging Het
Nbeal2 A T 9: 110,473,746 (GRCm39) V31E probably damaging Het
Ncapd2 G T 6: 125,154,835 (GRCm39) P546T probably benign Het
Or52l1 A G 7: 104,829,929 (GRCm39) V212A probably damaging Het
Pan3 T C 5: 147,390,052 (GRCm39) probably benign Het
Rab3b T A 4: 108,781,223 (GRCm39) probably null Het
Rabl2 T C 15: 89,467,615 (GRCm39) K119E probably benign Het
Reln A G 5: 22,101,928 (GRCm39) V3334A probably damaging Het
Rfx1 A G 8: 84,819,601 (GRCm39) probably null Het
Sag T C 1: 87,733,071 (GRCm39) I13T probably damaging Het
Sat2 T C 11: 69,513,789 (GRCm39) probably null Het
Scn5a A T 9: 119,315,091 (GRCm39) D1872E possibly damaging Het
Sh2b2 T G 5: 136,260,656 (GRCm39) I187L probably benign Het
Slit3 G A 11: 35,591,211 (GRCm39) G1341D possibly damaging Het
Tmed11 A T 5: 108,927,750 (GRCm39) S95T possibly damaging Het
Tmem186 A G 16: 8,453,733 (GRCm39) V176A possibly damaging Het
Trim12c A T 7: 103,997,422 (GRCm39) S45T possibly damaging Het
Ube4b C A 4: 149,468,275 (GRCm39) R167L probably damaging Het
Zfp335 A T 2: 164,752,540 (GRCm39) probably null Het
Other mutations in Rhod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02610:Rhod APN 19 4,476,203 (GRCm39) missense probably damaging 1.00
IGL03164:Rhod APN 19 4,482,829 (GRCm39) missense possibly damaging 0.83
IGL03409:Rhod APN 19 4,482,186 (GRCm39) missense probably damaging 0.99
R1330:Rhod UTSW 19 4,476,182 (GRCm39) missense probably damaging 1.00
R5154:Rhod UTSW 19 4,482,122 (GRCm39) missense probably damaging 1.00
R5436:Rhod UTSW 19 4,476,615 (GRCm39) missense probably benign 0.00
R5887:Rhod UTSW 19 4,489,315 (GRCm39) missense probably damaging 0.99
R6429:Rhod UTSW 19 4,476,133 (GRCm39) missense probably benign 0.00
R8478:Rhod UTSW 19 4,476,719 (GRCm39) missense probably damaging 1.00
R8752:Rhod UTSW 19 4,476,121 (GRCm39) missense probably damaging 1.00
R9732:Rhod UTSW 19 4,476,740 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09