Incidental Mutation 'IGL03131:Rab39'
ID410338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab39
Ensembl Gene ENSMUSG00000055069
Gene NameRAB39, member RAS oncogene family
SynonymsC230094F14Rik, Rab39a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03131
Quality Score
Status
Chromosome9
Chromosomal Location53684110-53706232 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 53686561 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 135 (R135C)
Ref Sequence ENSEMBL: ENSMUSP00000063804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068449]
Predicted Effect probably damaging
Transcript: ENSMUST00000068449
AA Change: R135C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063804
Gene: ENSMUSG00000055069
AA Change: R135C

DomainStartEndE-ValueType
RAB 9 178 8.35e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118010
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,679,602 R135S unknown Het
A1bg T C 15: 60,919,756 Y277C probably damaging Het
Abca12 A T 1: 71,346,702 F252L probably benign Het
Abcd3 A T 3: 121,781,991 probably benign Het
Acvr2b C A 9: 119,431,284 F364L possibly damaging Het
Adamts12 T C 15: 11,345,564 C1564R probably damaging Het
Agap3 A G 5: 24,477,132 T392A probably benign Het
Ano1 A G 7: 144,603,585 F767L possibly damaging Het
Atg10 C A 13: 90,937,293 R179I probably null Het
Bsph1 A T 7: 13,473,087 K129N probably damaging Het
Calml4 A G 9: 62,875,483 D77G probably benign Het
Cc2d1a T A 8: 84,143,427 K153M probably damaging Het
Col4a2 G A 8: 11,425,979 V672I probably benign Het
Crnkl1 T C 2: 145,932,258 K95R probably benign Het
Crtap T C 9: 114,380,004 D324G possibly damaging Het
Csmd1 C T 8: 16,088,217 G1607E probably damaging Het
Dcbld2 T G 16: 58,451,688 I369R probably benign Het
Dmc1 T A 15: 79,568,691 I246L probably benign Het
Dock1 G T 7: 134,874,183 V896L possibly damaging Het
Eftud2 G A 11: 102,870,183 T112M probably damaging Het
F5 A T 1: 164,161,819 I97F possibly damaging Het
Fam208a C T 14: 27,461,179 Q532* probably null Het
Fasn C T 11: 120,810,724 V1939M possibly damaging Het
Gpatch2l T C 12: 86,281,511 V414A probably benign Het
Gpd2 T C 2: 57,338,843 probably benign Het
Gria4 T G 9: 4,432,876 N769T probably damaging Het
Gtf3c2 A T 5: 31,157,620 F885I probably damaging Het
Ifi209 C T 1: 173,641,234 T210I possibly damaging Het
Kmt2c A G 5: 25,315,361 V1917A probably benign Het
Mad1l1 G A 5: 140,307,703 A120V probably benign Het
Mef2c T C 13: 83,662,375 I382T probably damaging Het
Ms4a14 A T 19: 11,307,692 L171I probably benign Het
Myf6 T A 10: 107,494,271 Q145L probably damaging Het
Myh3 G A 11: 67,091,109 probably benign Het
Nbas A G 12: 13,279,416 I121V probably benign Het
Ncoa2 A T 1: 13,177,174 S342T probably damaging Het
Nlrp1b C T 11: 71,161,915 D896N possibly damaging Het
Prss41 A G 17: 23,842,524 Y98H probably benign Het
Ptpn13 A T 5: 103,517,559 T450S probably benign Het
Radil A G 5: 142,495,342 V570A probably damaging Het
Sbno1 C T 5: 124,388,605 R949Q probably damaging Het
Sec61a2 T A 2: 5,882,878 K98* probably null Het
Serbp1 T A 6: 67,281,823 probably null Het
Serpinb3c G T 1: 107,271,727 Q355K probably benign Het
Slc34a3 T G 2: 25,231,234 D307A probably benign Het
Smarcad1 T A 6: 65,074,953 S357T probably damaging Het
Spag17 G A 3: 100,010,759 D353N possibly damaging Het
Spdl1 T A 11: 34,830,765 Q39L possibly damaging Het
Syne2 A C 12: 76,057,490 Q5485P probably damaging Het
Synj1 C A 16: 90,988,168 V227F probably damaging Het
Syt12 T C 19: 4,456,854 T88A probably benign Het
Tlr12 A G 4: 128,615,877 F860S probably damaging Het
Trdn C A 10: 33,398,414 S461* probably null Het
Trip4 G A 9: 65,857,445 P413S probably benign Het
Wdr17 A G 8: 54,696,267 probably null Het
Wnt9a T C 11: 59,331,029 L251P probably damaging Het
Xrcc1 A T 7: 24,573,294 K618* probably null Het
Zfp759 T C 13: 67,138,664 L93P probably damaging Het
Other mutations in Rab39
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0207:Rab39 UTSW 9 53705971 missense possibly damaging 0.71
R0238:Rab39 UTSW 9 53706030 missense probably damaging 0.98
R0238:Rab39 UTSW 9 53706030 missense probably damaging 0.98
R0529:Rab39 UTSW 9 53686716 missense probably damaging 1.00
R1869:Rab39 UTSW 9 53705931 missense possibly damaging 0.82
R2020:Rab39 UTSW 9 53686398 missense possibly damaging 0.78
R3967:Rab39 UTSW 9 53686632 missense possibly damaging 0.52
R3968:Rab39 UTSW 9 53686632 missense possibly damaging 0.52
R3969:Rab39 UTSW 9 53686632 missense possibly damaging 0.52
R4128:Rab39 UTSW 9 53686504 missense probably benign 0.01
R4394:Rab39 UTSW 9 53686650 missense probably benign
R5173:Rab39 UTSW 9 53686500 missense probably damaging 1.00
R5839:Rab39 UTSW 9 53706087 missense probably damaging 1.00
R6351:Rab39 UTSW 9 53686521 missense probably benign
R6521:Rab39 UTSW 9 53706031 missense probably benign 0.28
R6908:Rab39 UTSW 9 53706069 missense probably damaging 1.00
R7747:Rab39 UTSW 9 53686400 missense probably benign
Posted On2016-08-02