Incidental Mutation 'IGL03160:Rhoq'
ID 411375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhoq
Ensembl Gene ENSMUSG00000024143
Gene Name ras homolog family member Q
Synonyms Arhq, TC10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03160
Quality Score
Status
Chromosome 17
Chromosomal Location 87270539-87307497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87304349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 160 (Y160S)
Ref Sequence ENSEMBL: ENSMUSP00000024956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024956] [ENSMUST00000024957] [ENSMUST00000139344]
AlphaFold Q8R527
Predicted Effect probably damaging
Transcript: ENSMUST00000024956
AA Change: Y160S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024956
Gene: ENSMUSG00000024143
AA Change: Y160S

DomainStartEndE-ValueType
RHO 12 185 5.31e-124 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000024957
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139344
SMART Domains Protein: ENSMUSP00000116780
Gene: ENSMUSG00000024143

DomainStartEndE-ValueType
RHO 12 153 1.91e-84 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 member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T C 13: 111,392,462 (GRCm39) S266P probably benign Het
Agrn A T 4: 156,254,820 (GRCm39) F1525Y probably damaging Het
Akap13 T C 7: 75,380,165 (GRCm39) V2165A probably damaging Het
Ccn6 T C 10: 39,029,233 (GRCm39) T232A probably damaging Het
Cd109 G T 9: 78,568,338 (GRCm39) probably null Het
Cdhr4 A C 9: 107,873,068 (GRCm39) T339P probably benign Het
Chek1 T C 9: 36,633,941 (GRCm39) H128R probably damaging Het
Clcn7 T A 17: 25,365,427 (GRCm39) probably benign Het
Dnah9 A G 11: 65,998,880 (GRCm39) F1056S probably damaging Het
Eml3 A T 19: 8,912,319 (GRCm39) Q372L probably benign Het
Fam161b T C 12: 84,400,599 (GRCm39) T458A probably benign Het
Fbxo3 T A 2: 103,860,692 (GRCm39) C36* probably null Het
Gm28042 T A 2: 119,866,309 (GRCm39) I369N possibly damaging Het
Gpc1 A G 1: 92,785,579 (GRCm39) Y423C probably damaging Het
Heatr5a A G 12: 51,931,279 (GRCm39) probably benign Het
Hectd4 A T 5: 121,397,942 (GRCm39) Y290F probably benign Het
Ifi207 T C 1: 173,562,670 (GRCm39) probably benign Het
Kndc1 A T 7: 139,500,605 (GRCm39) K657* probably null Het
Lama5 T C 2: 179,822,128 (GRCm39) T2927A probably damaging Het
Lepr A T 4: 101,622,103 (GRCm39) N345I probably damaging Het
Mtbp T C 15: 55,484,013 (GRCm39) probably benign Het
Muc1 G A 3: 89,140,331 (GRCm39) V608I possibly damaging Het
Or56a3 A G 7: 104,735,520 (GRCm39) N199S probably damaging Het
P2ry13 A G 3: 59,117,496 (GRCm39) L94P probably damaging Het
Retreg3 G T 11: 100,990,501 (GRCm39) Q89K probably benign Het
Samd9l A T 6: 3,374,894 (GRCm39) V789D probably damaging Het
Slc35f5 T C 1: 125,502,472 (GRCm39) S275P probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Snapc1 T A 12: 74,016,978 (GRCm39) H205Q probably damaging Het
Stard3 G T 11: 98,269,737 (GRCm39) R352L probably damaging Het
Stat5a A G 11: 100,752,671 (GRCm39) I85V possibly damaging Het
Tenm3 A T 8: 49,099,453 (GRCm39) D117E probably benign Het
Tg T A 15: 66,711,152 (GRCm39) C971* probably null Het
Tnrc6c T A 11: 117,640,651 (GRCm39) probably benign Het
Tra2a C T 6: 49,240,798 (GRCm39) V4I possibly damaging Het
Trim54 C T 5: 31,289,424 (GRCm39) T145I probably damaging Het
Vmn2r75 T C 7: 85,797,644 (GRCm39) D723G probably damaging Het
Wnk1 T C 6: 119,903,594 (GRCm39) T2042A probably damaging Het
Zfp87 T C 13: 67,669,392 (GRCm39) E18G probably damaging Het
Other mutations in Rhoq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Rhoq APN 17 87,271,077 (GRCm39) missense probably damaging 0.99
R1928:Rhoq UTSW 17 87,302,486 (GRCm39) missense probably benign 0.01
R4595:Rhoq UTSW 17 87,271,754 (GRCm39) missense probably benign 0.04
R4913:Rhoq UTSW 17 87,302,493 (GRCm39) missense probably benign 0.09
R5445:Rhoq UTSW 17 87,271,755 (GRCm39) missense probably benign 0.01
R5622:Rhoq UTSW 17 87,304,459 (GRCm39) missense probably benign 0.00
R5895:Rhoq UTSW 17 87,302,117 (GRCm39) missense probably damaging 0.99
R6426:Rhoq UTSW 17 87,302,442 (GRCm39) missense probably damaging 0.98
R8978:Rhoq UTSW 17 87,271,767 (GRCm39) missense
R9192:Rhoq UTSW 17 87,304,405 (GRCm39) missense
R9492:Rhoq UTSW 17 87,304,373 (GRCm39) missense
Posted On 2016-08-02