Incidental Mutation 'IGL01726:Rhou'
ID105294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhou
Ensembl Gene ENSMUSG00000039960
Gene Nameras homolog family member U
Synonyms2310026M05Rik, WRCH-1, mG28K, CDC42L1, WRCH1, Arhu
Accession Numbers

Genbank: NM_133955; MGI: 1916831

Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01726
Quality Score
Status
Chromosome8
Chromosomal Location123653929-123663884 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123654141 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 66 (T66S)
Ref Sequence ENSEMBL: ENSMUSP00000038915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045487] [ENSMUST00000127664]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045487
AA Change: T66S

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038915
Gene: ENSMUSG00000039960
AA Change: T66S

DomainStartEndE-ValueType
low complexity region 7 53 N/A INTRINSIC
RHO 55 228 5.59e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136615
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 member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,730,840 probably null Het
Arpc2 A G 1: 74,248,179 T53A probably benign Het
Ccdc170 C A 10: 4,549,713 L545M probably benign Het
Ccm2l T C 2: 153,080,901 probably benign Het
Celsr1 T C 15: 85,926,190 N2166D probably benign Het
Clca4b T G 3: 144,928,342 D104A probably damaging Het
Clcnka C T 4: 141,392,740 probably null Het
Clip2 A T 5: 134,522,664 N201K probably damaging Het
Cyp1a2 G A 9: 57,682,202 L110F possibly damaging Het
Dhtkd1 T C 2: 5,942,656 T6A unknown Het
Enthd1 A C 15: 80,452,451 L594R probably damaging Het
Espnl A G 1: 91,344,904 D618G probably benign Het
Gm6096 A T 7: 34,251,479 I148F probably damaging Het
Hsf5 C T 11: 87,636,125 T541I probably benign Het
Il18r1 A G 1: 40,498,403 S443G possibly damaging Het
Il1a T C 2: 129,304,720 D151G possibly damaging Het
Ints1 A G 5: 139,768,411 probably benign Het
Kcnh1 A C 1: 192,505,856 D875A possibly damaging Het
Naip6 T A 13: 100,303,252 I336F probably benign Het
Napepld A G 5: 21,675,659 F246S possibly damaging Het
Nova1 C T 12: 46,713,497 probably null Het
Nsa2 C A 13: 97,132,017 A181S probably damaging Het
Ntn5 C A 7: 45,694,247 R337S probably damaging Het
Nynrin T C 14: 55,864,154 S427P probably benign Het
Olfr678 A G 7: 105,069,629 E54G probably damaging Het
Pcgf1 T A 6: 83,078,886 probably null Het
Pfn4 T A 12: 4,774,446 L58I probably benign Het
Plekha1 C A 7: 130,897,329 P116Q probably damaging Het
Pou5f2 T C 13: 78,025,181 S81P possibly damaging Het
Prag1 A G 8: 36,102,992 D243G probably damaging Het
Rbm26 G A 14: 105,152,507 P227L probably damaging Het
Rgl1 A T 1: 152,519,153 N756K probably damaging Het
Rspo3 A T 10: 29,504,708 D103E probably benign Het
Rundc3b T C 5: 8,520,902 K306E probably benign Het
Slc25a32 A G 15: 39,102,071 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Tarsl2 A G 7: 65,682,818 T556A possibly damaging Het
Tmem266 A G 9: 55,435,202 K324E probably benign Het
Tnrc6c T C 11: 117,749,335 probably benign Het
Trappc9 A T 15: 72,946,122 S452T probably damaging Het
Tspear T A 10: 77,881,287 probably benign Het
Ttll5 T G 12: 85,918,934 I571S probably benign Het
Ttn T C 2: 76,967,089 T544A probably benign Het
Ubn1 T C 16: 5,073,470 probably null Het
Ubr2 C A 17: 46,992,981 probably benign Het
Usp21 A T 1: 171,284,001 W360R probably damaging Het
Vmn2r62 A T 7: 42,765,102 L639H probably damaging Het
Zc3h7b T A 15: 81,771,799 I116N possibly damaging Het
Zfp618 C T 4: 63,132,635 T551I probably damaging Het
Zfp804b T C 5: 7,180,707 probably benign Het
Zkscan8 T C 13: 21,520,803 H322R probably benign Het
Zwint T G 10: 72,657,187 probably null Het
Other mutations in Rhou
AlleleSourceChrCoordTypePredicted EffectPPH Score
A5278:Rhou UTSW 8 123660991 missense probably damaging 0.99
R0926:Rhou UTSW 8 123660976 missense probably damaging 1.00
R1467:Rhou UTSW 8 123661290 missense possibly damaging 0.94
R1467:Rhou UTSW 8 123661290 missense possibly damaging 0.94
R1873:Rhou UTSW 8 123661251 missense probably damaging 1.00
R2276:Rhou UTSW 8 123655519 missense probably damaging 1.00
R2937:Rhou UTSW 8 123661141 missense possibly damaging 0.65
R5107:Rhou UTSW 8 123661173 nonsense probably null
R5176:Rhou UTSW 8 123654109 missense possibly damaging 0.90
R6172:Rhou UTSW 8 123661164 missense probably benign 0.07
R7053:Rhou UTSW 8 123654195 intron probably benign
Posted On2014-01-21