Incidental Mutation 'IGL01618:Rnd1'
ID92471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnd1
Ensembl Gene ENSMUSG00000054855
Gene NameRho family GTPase 1
SynonymsA830014L09Rik, Arhs
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.607) question?
Stock #IGL01618
Quality Score
Status
Chromosome15
Chromosomal Location98663421-98677461 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98673865 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 100 (M100K)
Ref Sequence ENSEMBL: ENSMUSP00000113830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003451] [ENSMUST00000109149] [ENSMUST00000120997]
Predicted Effect probably benign
Transcript: ENSMUST00000003451
AA Change: M100K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000003451
Gene: ENSMUSG00000054855
AA Change: M100K

DomainStartEndE-ValueType
RHO 16 190 1.95e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109149
AA Change: M100K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104777
Gene: ENSMUSG00000054855
AA Change: M100K

DomainStartEndE-ValueType
RHO 16 159 1.57e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120997
AA Change: M100K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000113830
Gene: ENSMUSG00000054855
AA Change: M100K

DomainStartEndE-ValueType
RHO 16 160 5.46e-62 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Susd4 A G 1: 182,858,461 probably null Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Rnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03176:Rnd1 APN 15 98670688 missense probably damaging 1.00
R1163:Rnd1 UTSW 15 98676554 missense probably damaging 0.99
R7307:Rnd1 UTSW 15 98670799 missense probably damaging 1.00
R7438:Rnd1 UTSW 15 98673901 missense probably damaging 1.00
R7445:Rnd1 UTSW 15 98670669 missense probably benign 0.00
Posted On2013-12-09