Incidental Mutation 'R3968:Rab39'
ID 312445
Institutional Source Beutler Lab
Gene Symbol Rab39
Ensembl Gene ENSMUSG00000055069
Gene Name RAB39, member RAS oncogene family
Synonyms Rab39a, C230094F14Rik
MMRRC Submission 040936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3968 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 53595410-53617532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53597932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 111 (A111V)
Ref Sequence ENSEMBL: ENSMUSP00000063804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068449]
AlphaFold Q8BHD0
Predicted Effect possibly damaging
Transcript: ENSMUST00000068449
AA Change: A111V

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063804
Gene: ENSMUSG00000055069
AA Change: A111V

DomainStartEndE-ValueType
RAB 9 178 8.35e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118010
Meta Mutation Damage Score 0.1410 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.1%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 C A 9: 42,916,847 (GRCm39) R432L probably damaging Het
Camk4 T A 18: 33,312,634 (GRCm39) I258N possibly damaging Het
Cdhr2 A T 13: 54,874,271 (GRCm39) N781I probably damaging Het
Cela1 C T 15: 100,582,534 (GRCm39) G93S probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cysltr2 A G 14: 73,267,614 (GRCm39) I32T probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fcho2 A T 13: 98,871,564 (GRCm39) S551T probably benign Het
Fzd8 T C 18: 9,214,070 (GRCm39) V384A probably damaging Het
Gm14401 T C 2: 176,778,789 (GRCm39) Y292H possibly damaging Het
H2-M2 C T 17: 37,792,197 (GRCm39) G318S possibly damaging Het
Il21r G T 7: 125,227,215 (GRCm39) probably null Het
Itgam T C 7: 127,712,205 (GRCm39) Y697H probably damaging Het
Itpkb A T 1: 180,155,363 (GRCm39) probably benign Het
Lama3 A T 18: 12,713,398 (GRCm39) K3230M probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Narf A T 11: 121,129,247 (GRCm39) E10D possibly damaging Het
Net1 A G 13: 3,957,795 (GRCm39) probably null Het
Nlrx1 A T 9: 44,166,722 (GRCm39) probably benign Het
Oard1 T C 17: 48,722,282 (GRCm39) Y93H probably damaging Het
Or4n5 A T 14: 50,132,983 (GRCm39) I92N probably damaging Het
Or8b54 A G 9: 38,686,664 (GRCm39) T38A probably benign Het
Pcm1 T C 8: 41,778,867 (GRCm39) L1825P probably damaging Het
Pecr G A 1: 72,315,468 (GRCm39) T94I probably damaging Het
Piezo2 A T 18: 63,144,767 (GRCm39) V2776E probably damaging Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Ppfia2 T A 10: 106,742,382 (GRCm39) D1058E probably damaging Het
Ppl T C 16: 4,918,196 (GRCm39) probably null Het
Sema3g T C 14: 30,948,478 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,680 (GRCm39) Y72H probably damaging Het
Sntb2 T A 8: 107,723,772 (GRCm39) Y340* probably null Het
Srrm4 A G 5: 116,582,803 (GRCm39) probably benign Het
Ssb C T 2: 69,697,793 (GRCm39) probably benign Het
Sval2 T A 6: 41,838,861 (GRCm39) V14E probably damaging Het
Tmc2 T G 2: 130,043,991 (GRCm39) V75G probably benign Het
Tnnc2 T C 2: 164,619,457 (GRCm39) E129G possibly damaging Het
Vmn2r94 C A 17: 18,478,647 (GRCm39) Q33H possibly damaging Het
Yap1 C T 9: 7,973,877 (GRCm39) R188Q probably damaging Het
Other mutations in Rab39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03131:Rab39 APN 9 53,597,861 (GRCm39) missense probably damaging 1.00
R0207:Rab39 UTSW 9 53,617,271 (GRCm39) missense possibly damaging 0.71
R0238:Rab39 UTSW 9 53,617,330 (GRCm39) missense probably damaging 0.98
R0238:Rab39 UTSW 9 53,617,330 (GRCm39) missense probably damaging 0.98
R0529:Rab39 UTSW 9 53,598,016 (GRCm39) missense probably damaging 1.00
R1869:Rab39 UTSW 9 53,617,231 (GRCm39) missense possibly damaging 0.82
R2020:Rab39 UTSW 9 53,597,698 (GRCm39) missense possibly damaging 0.78
R3967:Rab39 UTSW 9 53,597,932 (GRCm39) missense possibly damaging 0.52
R3969:Rab39 UTSW 9 53,597,932 (GRCm39) missense possibly damaging 0.52
R4128:Rab39 UTSW 9 53,597,804 (GRCm39) missense probably benign 0.01
R4394:Rab39 UTSW 9 53,597,950 (GRCm39) missense probably benign
R5173:Rab39 UTSW 9 53,597,800 (GRCm39) missense probably damaging 1.00
R5839:Rab39 UTSW 9 53,617,387 (GRCm39) missense probably damaging 1.00
R6351:Rab39 UTSW 9 53,597,821 (GRCm39) missense probably benign
R6521:Rab39 UTSW 9 53,617,331 (GRCm39) missense probably benign 0.28
R6908:Rab39 UTSW 9 53,617,369 (GRCm39) missense probably damaging 1.00
R7747:Rab39 UTSW 9 53,597,700 (GRCm39) missense probably benign
R8078:Rab39 UTSW 9 53,617,255 (GRCm39) missense possibly damaging 0.88
R8285:Rab39 UTSW 9 53,617,231 (GRCm39) missense probably damaging 1.00
R9200:Rab39 UTSW 9 53,597,665 (GRCm39) missense probably benign 0.06
R9406:Rab39 UTSW 9 53,597,915 (GRCm39) missense probably damaging 0.98
Z1177:Rab39 UTSW 9 53,598,014 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGACTCTTCAACGTTTGTCG -3'
(R):5'- ACGGGCATGTGTTAATCTCAG -3'

Sequencing Primer
(F):5'- CAACGTTTGTCGCGTCCTTGG -3'
(R):5'- GTTACATGATATGACGGTATCTTCG -3'
Posted On 2015-04-29