Incidental Mutation 'IGL03164:Rhod'
ID 411543
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 # IGL03164
Quality Score
Status
Chromosome 19
Chromosomal Location 4475487-4489460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4482829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 63 (K63E)
Ref Sequence ENSEMBL: ENSMUSP00000112607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048197] [ENSMUST00000117462]
AlphaFold P97348
Predicted Effect possibly damaging
Transcript: ENSMUST00000048197
AA Change: K63E

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036031
Gene: ENSMUSG00000041845
AA Change: K63E

DomainStartEndE-ValueType
RHO 20 193 3.46e-114 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117462
AA Change: K63E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112607
Gene: ENSMUSG00000041845
AA Change: K63E

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,070 (GRCm39) D256G probably damaging Het
Abcb11 A T 2: 69,122,343 (GRCm39) L380* probably null Het
Aco1 A T 4: 40,167,116 (GRCm39) N110I probably benign Het
Adamts9 T C 6: 92,866,918 (GRCm39) D126G probably damaging Het
Anks1b T G 10: 89,878,554 (GRCm39) V121G probably damaging Het
Ap1s3 A G 1: 79,602,887 (GRCm39) L40P probably damaging Het
Cd19 C A 7: 126,012,681 (GRCm39) M237I possibly damaging Het
Chil6 T C 3: 106,301,714 (GRCm39) T129A probably benign Het
Chtf18 A G 17: 25,945,816 (GRCm39) M94T probably benign Het
Clstn2 G T 9: 97,681,462 (GRCm39) D59E possibly damaging Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Ctnnbl1 A C 2: 157,659,681 (GRCm39) M253L probably benign Het
Erg T C 16: 95,210,730 (GRCm39) T41A possibly damaging Het
Gjd3 T A 11: 102,691,547 (GRCm39) N152I possibly damaging Het
Ints1 A G 5: 139,738,490 (GRCm39) L2084P probably damaging Het
Isoc1 C T 18: 58,806,404 (GRCm39) S238L probably damaging Het
Kdm5a T A 6: 120,415,980 (GRCm39) D1633E probably damaging Het
Krt76 T C 15: 101,795,886 (GRCm39) D428G possibly damaging Het
Lrp2 G T 2: 69,295,043 (GRCm39) T3425K probably damaging Het
Lta4h T C 10: 93,306,659 (GRCm39) probably benign Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nlrp5 T A 7: 23,117,798 (GRCm39) Y507* probably null Het
Nps T C 7: 134,874,039 (GRCm39) S53P probably damaging Het
Oprk1 A T 1: 5,669,087 (GRCm39) I178F probably damaging Het
Or2a12 C T 6: 42,905,064 (GRCm39) R300* probably null Het
Or5p1 T C 7: 107,916,901 (GRCm39) S267P probably damaging Het
Osgin2 G T 4: 16,001,938 (GRCm39) S204R probably benign Het
Otop1 G T 5: 38,445,306 (GRCm39) G155* probably null Het
Peli3 A G 19: 4,986,144 (GRCm39) probably null Het
Pex7 T A 10: 19,770,461 (GRCm39) probably benign Het
Pfkm T C 15: 98,029,843 (GRCm39) L749P probably damaging Het
Pwp1 T A 10: 85,714,367 (GRCm39) F103Y probably benign Het
Rtl1 T C 12: 109,559,367 (GRCm39) E824G probably damaging Het
Sema4d A G 13: 51,862,958 (GRCm39) F467L possibly damaging Het
Septin10 T C 10: 59,016,921 (GRCm39) E201G probably damaging Het
Slc37a3 G A 6: 39,322,237 (GRCm39) T389I probably benign Het
Slco2b1 C T 7: 99,334,743 (GRCm39) A243T probably damaging Het
Sorbs2 A G 8: 46,235,911 (GRCm39) T187A probably benign Het
Supt20 T A 3: 54,620,609 (GRCm39) D389E probably benign Het
Tchh A G 3: 93,352,699 (GRCm39) D713G unknown Het
Trappc10 T C 10: 78,056,076 (GRCm39) R209G probably damaging Het
Unc119 A G 11: 78,239,002 (GRCm39) D176G probably damaging Het
Usb1 G A 8: 96,060,112 (GRCm39) R21Q probably damaging 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
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 2016-08-02