Incidental Mutation 'IGL00514:Rragb'
ID 5633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rragb
Ensembl Gene ENSMUSG00000041658
Gene Name Ras-related GTP binding B
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL00514
Quality Score
Status
Chromosome X
Chromosomal Location 151922977-151954939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 151954294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 370 (C370W)
Ref Sequence ENSEMBL: ENSMUSP00000039013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039720]
AlphaFold Q6NTA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000039720
AA Change: C370W

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039013
Gene: ENSMUSG00000041658
AA Change: C370W

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Arf 32 241 1.2e-6 PFAM
Pfam:Ras 42 238 3.8e-6 PFAM
Pfam:Gtr1_RagA 42 296 1.8e-107 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,432,141 (GRCm39) E75G unknown Het
Ank3 T C 10: 69,818,035 (GRCm39) probably benign Het
Aplf A G 6: 87,645,390 (GRCm39) probably benign Het
Baz2b A T 2: 59,792,821 (GRCm39) F436I probably benign Het
Blmh A G 11: 76,857,839 (GRCm39) D327G probably damaging Het
Bmt2 A T 6: 13,628,752 (GRCm39) H310Q probably damaging Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Col19a1 T C 1: 24,576,013 (GRCm39) K110E unknown Het
Cyp2c68 T C 19: 39,700,939 (GRCm39) D293G probably damaging Het
Ears2 T A 7: 121,638,985 (GRCm39) K480* probably null Het
Efhc1 C T 1: 21,049,705 (GRCm39) Q522* probably null Het
Ehd4 G A 2: 119,921,694 (GRCm39) P521S probably damaging Het
Endov G T 11: 119,382,291 (GRCm39) probably benign Het
Fgfr2 T G 7: 129,769,441 (GRCm39) T648P probably benign Het
Hsf5 A G 11: 87,513,922 (GRCm39) Y329C probably damaging Het
Kntc1 T A 5: 123,929,590 (GRCm39) S1308T probably benign Het
Mill1 A T 7: 17,998,566 (GRCm39) T259S possibly damaging Het
Ms4a4c C T 19: 11,396,400 (GRCm39) A111V probably damaging Het
Myh1 G T 11: 67,110,610 (GRCm39) R1507M probably damaging Het
Nbeal1 G A 1: 60,256,384 (GRCm39) D210N probably benign Het
Neo1 G T 9: 58,829,202 (GRCm39) probably benign Het
Nipsnap2 A G 5: 129,831,915 (GRCm39) D236G probably damaging Het
Plekhh2 G T 17: 84,903,734 (GRCm39) probably null Het
Prox2 A T 12: 85,141,552 (GRCm39) M217K probably benign Het
Rgl2 G A 17: 34,152,110 (GRCm39) G299E probably benign Het
Scn9a A T 2: 66,393,945 (GRCm39) N209K probably damaging Het
Sec61g A T 11: 16,451,817 (GRCm39) probably benign Het
Slc38a7 A G 8: 96,567,105 (GRCm39) probably benign Het
Smcr8 A T 11: 60,669,193 (GRCm39) K114* probably null Het
Stag3 T C 5: 138,298,397 (GRCm39) L730P probably damaging Het
Syn3 A G 10: 86,190,280 (GRCm39) L183P probably damaging Het
Tbk1 A T 10: 121,388,155 (GRCm39) C637S probably benign Het
Tmem30c A T 16: 57,090,437 (GRCm39) Y257N probably damaging Het
Trpm3 C T 19: 22,965,023 (GRCm39) T1506M probably benign Het
Yes1 A C 5: 32,812,473 (GRCm39) K248Q probably benign Het
Zfp638 A T 6: 83,933,680 (GRCm39) K811N probably damaging Het
Other mutations in Rragb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03268:Rragb APN X 151,923,493 (GRCm39) missense unknown
R5398:Rragb UTSW X 151,923,550 (GRCm39) missense probably damaging 1.00
R5399:Rragb UTSW X 151,923,550 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20