Incidental Mutation 'IGL02708:Rab6b'
ID304465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab6b
Ensembl Gene ENSMUSG00000032549
Gene NameRAB6B, member RAS oncogene family
SynonymsC330006L04Rik, D9Bwg0185e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02708
Quality Score
Status
Chromosome9
Chromosomal Location103111787-103185276 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 103160875 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035155] [ENSMUST00000189134]
Predicted Effect probably null
Transcript: ENSMUST00000035155
SMART Domains Protein: ENSMUSP00000035155
Gene: ENSMUSG00000032549

DomainStartEndE-ValueType
RAB 14 177 5.19e-86 SMART
Predicted Effect probably null
Transcript: ENSMUST00000189134
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in growth retardation and multiple behavioral and immunological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,500,801 V1104D probably damaging Het
Adgrl2 A T 3: 148,826,525 V1024E probably damaging Het
Agbl2 A G 2: 90,801,342 H348R probably benign Het
Aifm2 T C 10: 61,738,575 probably benign Het
Ankrd26 T C 6: 118,518,418 probably benign Het
Avpr1b A G 1: 131,600,651 D304G probably damaging Het
Duox1 A G 2: 122,326,017 D475G possibly damaging Het
E2f8 T C 7: 48,867,234 probably null Het
Fat2 T A 11: 55,282,385 I2501F probably damaging Het
Gm13119 T A 4: 144,363,413 L341H probably damaging Het
Gm4181 A G 14: 51,633,232 C91R probably benign Het
Gm5424 T A 10: 62,071,611 noncoding transcript Het
Gnai3 A G 3: 108,118,344 F140L probably benign Het
Htra1 A T 7: 130,962,035 D212V probably damaging Het
Irgm2 T C 11: 58,220,524 V347A probably benign Het
Itch A G 2: 155,174,044 T150A probably benign Het
Itgb3 A C 11: 104,637,829 I261L possibly damaging Het
Kalrn C T 16: 34,392,050 V31M probably damaging Het
Klra7 C T 6: 130,226,500 C181Y probably damaging Het
Klrb1 A G 6: 128,713,585 L58S probably benign Het
Kndc1 A G 7: 139,901,181 E61G probably damaging Het
Krt78 T A 15: 101,953,407 T135S possibly damaging Het
Mpdz A G 4: 81,284,571 probably null Het
Mphosph6 A G 8: 117,792,786 probably benign Het
Myo19 T C 11: 84,899,396 S393P possibly damaging Het
Olfr586 A G 7: 103,121,820 probably benign Het
Olfr968 T C 9: 39,771,918 N294S probably damaging Het
Pkdrej T C 15: 85,820,787 Y316C probably damaging Het
Pkp3 A T 7: 141,089,768 probably benign Het
Ppil2 A T 16: 17,106,008 V59D probably benign Het
Psmb8 A G 17: 34,201,243 K270E probably benign Het
Ptprq T C 10: 107,652,700 N959D probably damaging Het
Rhobtb3 T C 13: 75,917,724 D180G probably damaging Het
Sccpdh G A 1: 179,680,509 C238Y probably benign Het
Srm C T 4: 148,593,346 S147L probably benign Het
Synj1 A T 16: 90,991,462 S173T probably damaging Het
Tas1r1 T C 4: 152,028,340 E752G possibly damaging Het
Tmem151a G T 19: 5,082,847 Y110* probably null Het
Ttn A G 2: 76,726,613 V30016A probably damaging Het
Txnrd2 A G 16: 18,468,840 E331G probably benign Het
Vldlr T C 19: 27,238,085 C161R possibly damaging Het
Vmn1r91 T A 7: 20,101,490 S111R probably damaging Het
Vmn2r66 T A 7: 85,006,588 I407F probably benign Het
Vps13d T C 4: 145,128,280 M2258V probably benign Het
Other mutations in Rab6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Rab6b APN 9 103163895 missense probably benign 0.26
IGL01543:Rab6b APN 9 103162638 missense probably damaging 1.00
R0139:Rab6b UTSW 9 103140377 splice site probably null
R1034:Rab6b UTSW 9 103167124 missense probably benign 0.10
R1084:Rab6b UTSW 9 103162635 missense probably damaging 1.00
R3721:Rab6b UTSW 9 103167174 critical splice donor site probably null
R4591:Rab6b UTSW 9 103167174 critical splice donor site probably null
R5095:Rab6b UTSW 9 103140384 missense probably damaging 1.00
R5725:Rab6b UTSW 9 103163862 missense probably damaging 0.97
Posted On2015-04-16