Incidental Mutation 'IGL03409:Rhod'
List |< first << previous [record 30 of 42] next >> last >|
ID421720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhod
Ensembl Gene ENSMUSG00000041845
Gene Nameras homolog family member D
SynonymsArhd
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL03409
Quality Score
Status
Chromosome19
Chromosomal Location4425459-4439432 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4432158 bp
ZygosityHeterozygous
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]
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: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Polr3h C A 15: 81,917,394 A94S probably benign Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging Het
Other mutations in Rhod
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Rhod APN 19 4426219 missense probably damaging 1.00
IGL02610:Rhod APN 19 4426175 missense probably damaging 1.00
IGL03164:Rhod APN 19 4432801 missense possibly damaging 0.83
R1330:Rhod UTSW 19 4426154 missense probably damaging 1.00
R5154:Rhod UTSW 19 4432094 missense probably damaging 1.00
R5436:Rhod UTSW 19 4426587 missense probably benign 0.00
R5887:Rhod UTSW 19 4439287 missense probably damaging 0.99
R6429:Rhod UTSW 19 4426105 missense probably benign 0.00
Posted On2016-08-02