Incidental Mutation 'R4394:Rab39'
ID326540
Institutional Source Beutler Lab
Gene Symbol Rab39
Ensembl Gene ENSMUSG00000055069
Gene NameRAB39, member RAS oncogene family
SynonymsC230094F14Rik, Rab39a
MMRRC Submission 041683-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #R4394 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location53684110-53706232 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53686650 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 105 (K105R)
Ref Sequence ENSEMBL: ENSMUSP00000063804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068449]
Predicted Effect probably benign
Transcript: ENSMUST00000068449
AA Change: K105R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063804
Gene: ENSMUSG00000055069
AA Change: K105R

DomainStartEndE-ValueType
RAB 9 178 8.35e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118010
Meta Mutation Damage Score 0.044 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,836,584 F391L probably damaging Het
AC140205.10 C A 8: 20,833,165 T192K probably benign Het
Arid4b T A 13: 14,154,972 probably null Het
Bahd1 G A 2: 118,922,523 R757H probably damaging Het
Brip1 A T 11: 86,074,298 N855K possibly damaging Het
Ces2f A G 8: 104,950,954 N197S probably damaging Het
Chd4 A G 6: 125,121,618 T1520A probably damaging Het
Cltc A C 11: 86,733,630 N159K probably damaging Het
Cntn1 C T 15: 92,291,764 T656I probably damaging Het
Crybg3 A G 16: 59,560,095 probably benign Het
Dzip1l T A 9: 99,639,854 L181H probably damaging Het
Fam3b C A 16: 97,481,786 probably null Het
Fat1 T A 8: 44,952,346 N711K probably damaging Het
Fat3 A G 9: 15,922,792 I4168T probably benign Het
Fbxw20 T C 9: 109,232,330 D117G probably benign Het
Gm8122 A G 14: 43,234,068 L81P unknown Het
Hal T C 10: 93,496,559 probably benign Het
Hgf T A 5: 16,618,951 Y715* probably null Het
Hid1 T A 11: 115,367,642 probably benign Het
Hyou1 T A 9: 44,381,872 V125E probably damaging Het
Jrkl G A 9: 13,245,141 Q172* probably null Het
Lamc3 A G 2: 31,931,952 E1304G probably benign Het
Lman2l A C 1: 36,439,723 C103G probably damaging Het
Lrfn5 T C 12: 61,843,490 S522P probably damaging Het
Mark3 A T 12: 111,604,523 I86L possibly damaging Het
Mfsd13a C T 19: 46,371,992 R328C probably damaging Het
Mgst2 G A 3: 51,664,528 V26I probably damaging Het
Neb A T 2: 52,187,513 Y158* probably null Het
Nipbl T C 15: 8,361,861 I210V probably benign Het
Olfr1057 C T 2: 86,375,179 A78T possibly damaging Het
Olfr830 A T 9: 18,875,611 I95L probably damaging Het
Pcdhb8 C T 18: 37,356,882 P538S probably damaging Het
Postn A G 3: 54,370,955 D295G probably damaging Het
Prss38 T C 11: 59,373,028 Y286C probably damaging Het
Psen2 A T 1: 180,240,782 V102E probably damaging Het
Ptpn9 A T 9: 57,036,563 K126N possibly damaging Het
Ptprd A G 4: 76,128,685 I435T probably damaging Het
Robo2 C A 16: 73,948,379 R840L probably benign Het
Rps6ka5 T A 12: 100,581,319 I311F probably damaging Het
Ryr1 G T 7: 29,094,242 T1267K possibly damaging Het
Sis G A 3: 72,956,149 T252I probably damaging Het
Slc41a3 A T 6: 90,635,330 S201C probably damaging Het
Slitrk1 A C 14: 108,911,303 S659A probably benign Het
Snx25 A T 8: 46,035,678 M880K probably damaging Het
Tbxas1 C T 6: 39,027,779 T320I probably benign Het
Tex44 T C 1: 86,427,767 V466A probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Tnxb C T 17: 34,678,662 Q804* probably null Het
Tpst1 T A 5: 130,102,502 M271K probably benign Het
Trank1 C T 9: 111,365,197 T763I possibly damaging Het
Trip12 A T 1: 84,725,741 H729Q probably damaging Het
Tshz3 A T 7: 36,769,605 T340S probably damaging Het
Ttc5 T C 14: 50,781,505 K52E probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,211,984 probably benign Het
Vmn2r79 A G 7: 87,001,891 H166R possibly damaging Het
Wsb2 T G 5: 117,363,578 probably benign Het
Other mutations in Rab39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03131:Rab39 APN 9 53686561 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AACGTTTGTCGCGTCCTTG -3'
(R):5'- GAAACGGGCATGTGTTAATCTCAG -3'

Sequencing Primer
(F):5'- CCTTGGCTGAGGTCTCTATGTAC -3'
(R):5'- GTTACATGATATGACGGTATCTTCG -3'
Posted On2015-07-06