Incidental Mutation 'IGL03409:Rhod'
ID 421720
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: 0.143) question?
Stock # IGL03409
Quality Score
Status
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4482186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 76 (D76G)
Ref Sequence ENSEMBL: ENSMUSP00000112607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048197] [ENSMUST00000117462]
AlphaFold P97348
Predicted Effect probably damaging
Transcript: ENSMUST00000048197
AA Change: D76G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: D76G

DomainStartEndE-ValueType
RHO 20 193 3.46e-114 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117462
AA Change: D76G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845
AA Change: D76G

DomainStartEndE-ValueType
RHO 20 167 1.09e-79 SMART
low complexity region 176 188 N/A INTRINSIC
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 124,691,762 (GRCm39) M401K possibly damaging Het
Ablim3 T A 18: 61,978,922 (GRCm39) H203L probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aox1 T G 1: 58,393,588 (GRCm39) D1249E possibly damaging Het
Astn2 T C 4: 65,353,423 (GRCm39) I1116V possibly damaging Het
Atad3a T C 4: 155,831,807 (GRCm39) D489G probably damaging Het
Caln1 G T 5: 130,646,719 (GRCm39) G52C probably damaging Het
Clcn7 A G 17: 25,374,359 (GRCm39) T467A probably damaging Het
Col17a1 A T 19: 47,654,979 (GRCm39) I599N possibly damaging Het
Cul2 T A 18: 3,429,593 (GRCm39) H547Q probably damaging Het
Cxcl14 T C 13: 56,440,320 (GRCm39) T80A probably damaging Het
Dscaml1 T A 9: 45,581,401 (GRCm39) Y407N probably damaging Het
Edc4 T A 8: 106,611,748 (GRCm39) I108N probably damaging Het
Exoc2 T C 13: 31,124,720 (GRCm39) probably benign Het
Gm1110 T G 9: 26,807,916 (GRCm39) H290P probably benign Het
Gm16223 T A 5: 42,225,336 (GRCm39) W12R unknown Het
Herc2 C A 7: 55,878,317 (GRCm39) H4623Q probably damaging Het
Igkv18-36 A T 6: 69,969,589 (GRCm39) H68Q possibly damaging Het
Kif7 T C 7: 79,357,301 (GRCm39) E635G probably benign Het
Or2t47 T C 11: 58,442,388 (GRCm39) K226E probably benign Het
Or4c109 A T 2: 88,817,931 (GRCm39) I205N possibly damaging Het
Or52z13 T A 7: 103,246,574 (GRCm39) M17K possibly damaging Het
Or9m1b A T 2: 87,836,239 (GRCm39) N285K probably damaging Het
Pam C A 1: 97,792,054 (GRCm39) A456S probably benign Het
Pgap3 T C 11: 98,289,764 (GRCm39) T76A possibly damaging Het
Pkd2 C A 5: 104,637,215 (GRCm39) Y609* probably null Het
Plcg2 A G 8: 118,310,234 (GRCm39) D362G probably damaging Het
Polr3h C A 15: 81,801,595 (GRCm39) A94S probably benign Het
Rims2 T C 15: 39,320,129 (GRCm39) V670A probably damaging Het
Rpap3 G A 15: 97,579,620 (GRCm39) T464M possibly damaging Het
Rufy1 T A 11: 50,297,310 (GRCm39) I381L probably benign Het
Slc1a4 T C 11: 20,256,506 (GRCm39) T442A probably damaging Het
Slc9b1 T C 3: 135,100,670 (GRCm39) S472P probably damaging Het
Tmtc3 T C 10: 100,287,294 (GRCm39) T501A possibly damaging Het
Tnpo3 C A 6: 29,555,181 (GRCm39) D801Y probably damaging Het
Ttc39b T C 4: 83,179,193 (GRCm39) Y111C probably damaging Het
Ubr4 A T 4: 139,127,240 (GRCm39) R543* probably null Het
Vmn1r74 T G 7: 11,581,240 (GRCm39) L180R probably damaging Het
Vps45 T G 3: 95,960,401 (GRCm39) E80A probably benign Het
Zfp677 T C 17: 21,617,107 (GRCm39) Y55H probably damaging Het
Zng1 A G 19: 24,900,130 (GRCm39) V289A probably benign Het
Other mutations in Rhod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Rhod APN 19 4,476,247 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02