Incidental Mutation 'IGL02493:Rab31'
ID295748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab31
Ensembl Gene ENSMUSG00000056515
Gene NameRAB31, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02493
Quality Score
Status
Chromosome17
Chromosomal Location65651726-65772752 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65717552 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 44 (M44K)
Ref Sequence ENSEMBL: ENSMUSP00000068195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070673]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070673
AA Change: M44K

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068195
Gene: ENSMUSG00000056515
AA Change: M44K

DomainStartEndE-ValueType
RAB 7 170 9.87e-69 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Best3 A T 10: 117,024,601 R589W possibly damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kcnu1 T A 8: 25,937,520 N288K possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mtf1 C T 4: 124,821,319 R246W probably damaging Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Olfr480 A T 7: 108,065,805 M331K possibly damaging Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Slc5a4b A G 10: 76,075,015 V329A probably damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Trim6 A G 7: 104,232,640 Y366C probably benign Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown Het
Other mutations in Rab31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02445:Rab31 APN 17 65722003 splice site probably null
IGL03395:Rab31 APN 17 65696367 missense probably benign 0.02
R1967:Rab31 UTSW 17 65772504 critical splice donor site probably null
R4343:Rab31 UTSW 17 65654419 missense probably benign 0.00
R4810:Rab31 UTSW 17 65722003 splice site probably null
R7090:Rab31 UTSW 17 65698017 missense possibly damaging 0.92
R7228:Rab31 UTSW 17 65717553 missense probably benign 0.00
R8056:Rab31 UTSW 17 65717508 missense probably benign 0.33
R8202:Rab31 UTSW 17 65667886 missense probably damaging 1.00
R8330:Rab31 UTSW 17 65696274 missense possibly damaging 0.94
R8708:Rab31 UTSW 17 65667864 critical splice donor site probably benign
R8796:Rab31 UTSW 17 65772534 missense possibly damaging 0.68
Posted On2015-04-16