Incidental Mutation 'IGL02231:Rabl6'
ID 285700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabl6
Ensembl Gene ENSMUSG00000015087
Gene Name RAB, member RAS oncogene family-like 6
Synonyms Rbel1a, Rbel1b, Rbel1, B230208H17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02231
Quality Score
Chromosome 2
Chromosomal Location 25473029-25498493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25488196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 109 (K109N)
Ref Sequence ENSEMBL: ENSMUSP00000058746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058137]
AlphaFold Q5U3K5
Predicted Effect probably benign
Transcript: ENSMUST00000058137
AA Change: K109N

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: K109N

Pfam:Ras 45 108 1.5e-7 PFAM
Pfam:Roc 45 112 2.2e-8 PFAM
low complexity region 232 245 N/A INTRINSIC
low complexity region 291 325 N/A INTRINSIC
low complexity region 343 364 N/A INTRINSIC
low complexity region 378 397 N/A INTRINSIC
low complexity region 480 492 N/A INTRINSIC
coiled coil region 653 669 N/A INTRINSIC
low complexity region 708 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146012
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam T A 16: 52,094,413 (GRCm39) probably benign Het
Alox15 A C 11: 70,240,382 (GRCm39) D266E probably benign Het
Atcay A T 10: 81,046,382 (GRCm39) V314E probably damaging Het
Atp8b1 C T 18: 64,683,455 (GRCm39) G758R possibly damaging Het
Bltp2 G A 11: 78,170,722 (GRCm39) G1647D probably benign Het
Cacna2d4 T A 6: 119,254,869 (GRCm39) probably benign Het
Celsr3 T C 9: 108,719,709 (GRCm39) V2429A probably damaging Het
Clspn T G 4: 126,453,021 (GRCm39) D11E probably damaging Het
Cnot3 A G 7: 3,661,209 (GRCm39) T573A probably benign Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Edem1 A G 6: 108,805,849 (GRCm39) D50G probably benign Het
Emilin3 G A 2: 160,750,435 (GRCm39) T438I probably damaging Het
Etfdh C T 3: 79,525,700 (GRCm39) V173I probably damaging Het
Fat2 T C 11: 55,171,918 (GRCm39) T2932A probably damaging Het
Fcrl1 G A 3: 87,292,469 (GRCm39) E154K possibly damaging Het
Fcrl1 A T 3: 87,292,470 (GRCm39) E154V probably damaging Het
G3bp1 T A 11: 55,386,273 (GRCm39) L244* probably null Het
Itgae A T 11: 72,981,448 (GRCm39) K2M possibly damaging Het
Kcnq2 T C 2: 180,723,508 (GRCm39) I654V probably benign Het
Ksr2 C T 5: 117,638,841 (GRCm39) R82C probably damaging Het
Lrig3 A T 10: 125,833,041 (GRCm39) D305V probably damaging Het
Me1 T C 9: 86,493,908 (GRCm39) K322E possibly damaging Het
Med12l T A 3: 59,153,303 (GRCm39) D1109E probably damaging Het
Mest A G 6: 30,740,772 (GRCm39) K73E possibly damaging Het
Nup155 T G 15: 8,173,548 (GRCm39) L881R probably damaging Het
Ocln A T 13: 100,677,622 (GRCm39) S2T probably damaging Het
Oosp3 T C 19: 11,676,803 (GRCm39) L54S probably damaging Het
Pkp3 G A 7: 140,664,151 (GRCm39) E443K probably damaging Het
Plk2 T A 13: 110,536,603 (GRCm39) C632S probably benign Het
Ptk6 C T 2: 180,838,794 (GRCm39) V320I probably damaging Het
Ptprt A T 2: 162,079,980 (GRCm39) I273N probably damaging Het
Ptprt A G 2: 162,119,966 (GRCm39) probably null Het
Rab3gap2 T C 1: 184,999,095 (GRCm39) probably benign Het
Rabgef1 G A 5: 130,240,816 (GRCm39) A312T probably damaging Het
Rbp7 C T 4: 149,539,334 (GRCm39) probably null Het
Reg3a C T 6: 78,359,224 (GRCm39) H75Y possibly damaging Het
Rnf123 G T 9: 107,943,598 (GRCm39) P546T probably benign Het
Rnmt C A 18: 68,447,152 (GRCm39) C345* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc14a2 C T 18: 78,252,236 (GRCm39) S25N possibly damaging Het
Spata16 G T 3: 26,967,413 (GRCm39) G388W probably damaging Het
Speg C T 1: 75,400,031 (GRCm39) R2493W probably damaging Het
Thada T A 17: 84,736,125 (GRCm39) D970V probably damaging Het
Tmem184c A G 8: 78,331,441 (GRCm39) Y103H probably damaging Het
Ttn A T 2: 76,628,440 (GRCm39) D12827E probably damaging Het
Utp20 A G 10: 88,627,030 (GRCm39) L976S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp936 T A 7: 42,836,909 (GRCm39) probably null Het
Other mutations in Rabl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Rabl6 APN 2 25,474,132 (GRCm39) unclassified probably benign
IGL00742:Rabl6 APN 2 25,478,699 (GRCm39) missense probably damaging 0.96
IGL02424:Rabl6 APN 2 25,477,469 (GRCm39) missense probably benign
IGL02514:Rabl6 APN 2 25,498,188 (GRCm39) missense probably damaging 0.96
IGL03036:Rabl6 APN 2 25,474,868 (GRCm39) missense probably benign 0.00
IGL03278:Rabl6 APN 2 25,473,834 (GRCm39) unclassified probably benign
R0017:Rabl6 UTSW 2 25,492,579 (GRCm39) splice site probably benign
R0269:Rabl6 UTSW 2 25,476,878 (GRCm39) critical splice donor site probably null
R0442:Rabl6 UTSW 2 25,477,534 (GRCm39) missense probably damaging 0.98
R0617:Rabl6 UTSW 2 25,476,878 (GRCm39) critical splice donor site probably null
R0626:Rabl6 UTSW 2 25,482,778 (GRCm39) critical splice donor site probably null
R1109:Rabl6 UTSW 2 25,477,538 (GRCm39) missense probably damaging 1.00
R2034:Rabl6 UTSW 2 25,475,444 (GRCm39) missense possibly damaging 0.59
R3914:Rabl6 UTSW 2 25,478,718 (GRCm39) missense possibly damaging 0.91
R4255:Rabl6 UTSW 2 25,474,791 (GRCm39) missense possibly damaging 0.91
R5177:Rabl6 UTSW 2 25,475,385 (GRCm39) missense probably benign 0.18
R5389:Rabl6 UTSW 2 25,478,666 (GRCm39) missense probably damaging 0.96
R6082:Rabl6 UTSW 2 25,473,837 (GRCm39) unclassified probably benign
R6243:Rabl6 UTSW 2 25,475,415 (GRCm39) missense probably damaging 0.98
R6430:Rabl6 UTSW 2 25,474,849 (GRCm39) missense probably damaging 0.96
R6501:Rabl6 UTSW 2 25,492,459 (GRCm39) missense possibly damaging 0.92
R7485:Rabl6 UTSW 2 25,474,153 (GRCm39) missense unknown
R7839:Rabl6 UTSW 2 25,482,829 (GRCm39) missense probably damaging 0.97
R7889:Rabl6 UTSW 2 25,474,786 (GRCm39) critical splice donor site probably null
R8978:Rabl6 UTSW 2 25,477,541 (GRCm39) missense probably damaging 1.00
R9106:Rabl6 UTSW 2 25,486,446 (GRCm39) missense probably benign 0.01
R9439:Rabl6 UTSW 2 25,492,432 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16