Incidental Mutation 'IGL01726:Rhou'
ID 105294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhou
Ensembl Gene ENSMUSG00000039960
Gene Name ras homolog family member U
Synonyms mG28K, WRCH-1, CDC42L1, WRCH1, 2310026M05Rik, Arhu
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01726
Quality Score
Status
Chromosome 8
Chromosomal Location 124380668-124390623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124380880 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9EQT3
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: 89,638,147 (GRCm39) probably null Het
Arpc2 A G 1: 74,287,338 (GRCm39) T53A probably benign Het
Ccdc170 C A 10: 4,499,713 (GRCm39) L545M probably benign Het
Ccm2l T C 2: 152,922,821 (GRCm39) probably benign Het
Celsr1 T C 15: 85,810,391 (GRCm39) N2166D probably benign Het
Clca4b T G 3: 144,634,103 (GRCm39) D104A probably damaging Het
Clcnka C T 4: 141,120,051 (GRCm39) probably null Het
Clip2 A T 5: 134,551,518 (GRCm39) N201K probably damaging Het
Cyp1a2 G A 9: 57,589,485 (GRCm39) L110F possibly damaging Het
Dhtkd1 T C 2: 5,947,467 (GRCm39) T6A unknown Het
Enthd1 A C 15: 80,336,652 (GRCm39) L594R probably damaging Het
Espnl A G 1: 91,272,626 (GRCm39) D618G probably benign Het
Gm6096 A T 7: 33,950,904 (GRCm39) I148F probably damaging Het
Hsf5 C T 11: 87,526,951 (GRCm39) T541I probably benign Het
Il18r1 A G 1: 40,537,563 (GRCm39) S443G possibly damaging Het
Il1a T C 2: 129,146,640 (GRCm39) D151G possibly damaging Het
Ints1 A G 5: 139,754,166 (GRCm39) probably benign Het
Kcnh1 A C 1: 192,188,164 (GRCm39) D875A possibly damaging Het
Naip6 T A 13: 100,439,760 (GRCm39) I336F probably benign Het
Napepld A G 5: 21,880,657 (GRCm39) F246S possibly damaging Het
Nova1 C T 12: 46,760,280 (GRCm39) probably null Het
Nsa2 C A 13: 97,268,525 (GRCm39) A181S probably damaging Het
Ntn5 C A 7: 45,343,671 (GRCm39) R337S probably damaging Het
Nynrin T C 14: 56,101,611 (GRCm39) S427P probably benign Het
Or52e5 A G 7: 104,718,836 (GRCm39) E54G probably damaging Het
Pcgf1 T A 6: 83,055,867 (GRCm39) probably null Het
Pfn4 T A 12: 4,824,446 (GRCm39) L58I probably benign Het
Plekha1 C A 7: 130,499,059 (GRCm39) P116Q probably damaging Het
Pou5f2 T C 13: 78,173,300 (GRCm39) S81P possibly damaging Het
Prag1 A G 8: 36,570,146 (GRCm39) D243G probably damaging Het
Rbm26 G A 14: 105,389,943 (GRCm39) P227L probably damaging Het
Rgl1 A T 1: 152,394,904 (GRCm39) N756K probably damaging Het
Rspo3 A T 10: 29,380,704 (GRCm39) D103E probably benign Het
Rundc3b T C 5: 8,570,902 (GRCm39) K306E probably benign Het
Slc25a32 A G 15: 38,965,466 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Tars3 A G 7: 65,332,566 (GRCm39) T556A possibly damaging Het
Tmem266 A G 9: 55,342,486 (GRCm39) K324E probably benign Het
Tnrc6c T C 11: 117,640,161 (GRCm39) probably benign Het
Trappc9 A T 15: 72,817,971 (GRCm39) S452T probably damaging Het
Tspear T A 10: 77,717,121 (GRCm39) probably benign Het
Ttll5 T G 12: 85,965,708 (GRCm39) I571S probably benign Het
Ttn T C 2: 76,797,433 (GRCm39) T544A probably benign Het
Ubn1 T C 16: 4,891,334 (GRCm39) probably null Het
Ubr2 C A 17: 47,303,907 (GRCm39) probably benign Het
Usp21 A T 1: 171,111,574 (GRCm39) W360R probably damaging Het
Vmn2r62 A T 7: 42,414,526 (GRCm39) L639H probably damaging Het
Zc3h7b T A 15: 81,656,000 (GRCm39) I116N possibly damaging Het
Zfp618 C T 4: 63,050,872 (GRCm39) T551I probably damaging Het
Zfp804b T C 5: 7,230,707 (GRCm39) probably benign Het
Zkscan8 T C 13: 21,704,973 (GRCm39) H322R probably benign Het
Zwint T G 10: 72,493,019 (GRCm39) probably null Het
Other mutations in Rhou
AlleleSourceChrCoordTypePredicted EffectPPH Score
A5278:Rhou UTSW 8 124,387,730 (GRCm39) missense probably damaging 0.99
R0926:Rhou UTSW 8 124,387,715 (GRCm39) missense probably damaging 1.00
R1467:Rhou UTSW 8 124,388,029 (GRCm39) missense possibly damaging 0.94
R1467:Rhou UTSW 8 124,388,029 (GRCm39) missense possibly damaging 0.94
R1873:Rhou UTSW 8 124,387,990 (GRCm39) missense probably damaging 1.00
R2276:Rhou UTSW 8 124,382,258 (GRCm39) missense probably damaging 1.00
R2937:Rhou UTSW 8 124,387,880 (GRCm39) missense possibly damaging 0.65
R5107:Rhou UTSW 8 124,387,912 (GRCm39) nonsense probably null
R5176:Rhou UTSW 8 124,380,848 (GRCm39) missense possibly damaging 0.90
R6172:Rhou UTSW 8 124,387,903 (GRCm39) missense probably benign 0.07
R7053:Rhou UTSW 8 124,380,934 (GRCm39) intron probably benign
R9185:Rhou UTSW 8 124,387,793 (GRCm39) missense probably damaging 1.00
R9741:Rhou UTSW 8 124,380,914 (GRCm39) missense possibly damaging 0.46
Posted On 2014-01-21