Incidental Mutation 'IGL02070:Rab39b'
ID 185774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab39b
Ensembl Gene ENSMUSG00000031202
Gene Name RAB39B, member RAS oncogene family
Synonyms 6330580M05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02070
Quality Score
Status
Chromosome X
Chromosomal Location 74615652-74621837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 74618309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 174 (L174M)
Ref Sequence ENSEMBL: ENSMUSP00000033545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033545]
AlphaFold Q8BHC1
Predicted Effect probably damaging
Transcript: ENSMUST00000033545
AA Change: L174M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033545
Gene: ENSMUSG00000031202
AA Change: L174M

DomainStartEndE-ValueType
RAB 9 174 1.3e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152648
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Ras-related small GTPases, which regulate membrane trafficking in organelles and transport vesicles. This protein has been reported to be enriched in mouse brain, and specifically within neurons, and may play a role in synapse formation. In humans mutations in this gene are associated with X-linked mental retardation. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,343,336 (GRCm39) Y204H probably damaging Het
Akap13 C A 7: 75,316,293 (GRCm39) T583K probably benign Het
Alms1 C A 6: 85,628,385 (GRCm39) Q2948K possibly damaging Het
Auts2 C T 5: 131,499,259 (GRCm39) R327Q probably damaging Het
Card14 A C 11: 119,235,530 (GRCm39) E988A probably damaging Het
Ccl25 T C 8: 4,398,700 (GRCm39) probably benign Het
Cttnbp2nl A C 3: 104,918,582 (GRCm39) V86G probably damaging Het
Cyb5r2 G A 7: 107,350,394 (GRCm39) T213I probably damaging Het
Ear6 A G 14: 52,091,903 (GRCm39) H150R probably damaging Het
Ecm2 T C 13: 49,671,846 (GRCm39) C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 (GRCm39) E385* probably null Het
Hyal5 T A 6: 24,876,961 (GRCm39) V278D probably damaging Het
Mboat1 T C 13: 30,408,380 (GRCm39) L181P probably benign Het
Mdm1 A G 10: 117,982,523 (GRCm39) I53V probably damaging Het
Mfrp T C 9: 44,015,986 (GRCm39) Y368H probably benign Het
Myo1b A G 1: 51,833,496 (GRCm39) V365A probably damaging Het
Nexmif G T X: 103,126,817 (GRCm39) H1509Q probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Obox6 G A 7: 15,568,804 (GRCm39) S24L probably damaging Het
Optc T A 1: 133,828,914 (GRCm39) I178F probably damaging Het
Or4p22 T A 2: 88,317,346 (GRCm39) I90N probably damaging Het
Or56a42-ps1 G T 7: 104,776,254 (GRCm39) L85I probably benign Het
Pcdh15 T A 10: 74,466,700 (GRCm39) N1535K probably benign Het
Pcdhb19 A T 18: 37,631,597 (GRCm39) N464I probably damaging Het
Pcsk5 C T 19: 17,416,406 (GRCm39) V1681I probably benign Het
Phf8-ps T C 17: 33,285,104 (GRCm39) E566G probably damaging Het
Pknox1 T A 17: 31,822,339 (GRCm39) probably benign Het
Ppa2 T C 3: 133,083,623 (GRCm39) F327S probably damaging Het
Reep5 A T 18: 34,505,526 (GRCm39) Y48* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1a T A 10: 61,520,673 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,095 (GRCm39) D740V probably damaging Het
Sema3f G A 9: 107,569,440 (GRCm39) T128I probably damaging Het
Snx1 A T 9: 66,005,731 (GRCm39) S129R probably damaging Het
Sptb T A 12: 76,652,313 (GRCm39) K1641N possibly damaging Het
Sptbn1 T C 11: 30,095,979 (GRCm39) E305G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Taar7d A T 10: 23,904,152 (GRCm39) I345F probably benign Het
Tes T C 6: 17,099,779 (GRCm39) L258P probably damaging Het
Trav9-4 A T 14: 53,913,817 (GRCm39) T24S possibly damaging Het
Utp20 A G 10: 88,657,739 (GRCm39) probably benign Het
Vcam1 T A 3: 115,919,646 (GRCm39) T207S probably benign Het
Xkrx T C X: 133,051,311 (GRCm39) S447G probably benign Het
Zfp318 T C 17: 46,707,644 (GRCm39) L234P probably damaging Het
Other mutations in Rab39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Rab39b APN X 74,618,609 (GRCm39) missense probably damaging 1.00
R4073:Rab39b UTSW X 74,618,658 (GRCm39) intron probably benign
Posted On 2014-05-07