Incidental Mutation 'R6082:Rabl6'
ID 482224
Institutional Source Beutler Lab
Gene Symbol Rabl6
Ensembl Gene ENSMUSG00000015087
Gene Name RAB, member RAS oncogene family-like 6
Synonyms Rbel1a, Rbel1b, Rbel1, B230208H17Rik
MMRRC Submission 044241-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6082 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25473029-25498493 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 25473837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000187017] [ENSMUST00000191602] [ENSMUST00000188161]
AlphaFold Q5U3K5
Predicted Effect unknown
Transcript: ENSMUST00000058137
AA Change: R715H
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: R715H

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000114217
SMART Domains Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419

DomainStartEndE-ValueType
low complexity region 61 92 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 815 843 N/A INTRINSIC
low complexity region 880 894 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181730
Predicted Effect probably benign
Transcript: ENSMUST00000187017
Predicted Effect probably benign
Transcript: ENSMUST00000191602
SMART Domains Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419

DomainStartEndE-ValueType
low complexity region 61 92 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 815 843 N/A INTRINSIC
low complexity region 880 894 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188161
SMART Domains Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419

DomainStartEndE-ValueType
low complexity region 61 92 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 815 843 N/A INTRINSIC
low complexity region 880 894 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 11,868,752 (GRCm39) I344T probably benign Het
Adamts19 G A 18: 59,101,846 (GRCm39) A639T probably benign Het
Adamts9 T C 6: 92,866,930 (GRCm39) D122G probably damaging Het
Bin2 A G 15: 100,543,029 (GRCm39) S358P possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Btaf1 C T 19: 36,960,942 (GRCm39) R772C probably damaging Het
Cenpf T C 1: 189,390,301 (GRCm39) E1177G probably benign Het
Clec4b2 A T 6: 123,181,100 (GRCm39) probably null Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dennd5b A G 6: 148,970,193 (GRCm39) S87P probably damaging Het
Dhx8 C T 11: 101,655,139 (GRCm39) R1050W probably damaging Het
Eif3a T C 19: 60,760,568 (GRCm39) K682R possibly damaging Het
Eif4e2 G T 1: 87,153,956 (GRCm39) probably null Het
Ephb1 T C 9: 101,848,303 (GRCm39) D665G probably damaging Het
Gbp7 G A 3: 142,251,697 (GRCm39) V515M probably benign Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hook3 C A 8: 26,600,813 (GRCm39) A32S probably benign Het
Hoxb4 T C 11: 96,209,359 (GRCm39) probably benign Het
Idi1 T A 13: 8,940,506 (GRCm39) Y229* probably null Het
Lpl A T 8: 69,349,301 (GRCm39) I276F probably damaging Het
Ltbp4 T C 7: 27,035,105 (GRCm39) probably benign Het
Mphosph8 A G 14: 56,905,998 (GRCm39) I64V probably damaging Het
Mroh1 A G 15: 76,314,423 (GRCm39) D700G probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Myt1l T C 12: 29,892,518 (GRCm39) Y52H probably damaging Het
Nlrp9a T A 7: 26,267,402 (GRCm39) D777E probably benign Het
Nudt4 A G 10: 95,387,318 (GRCm39) I82T probably benign Het
Nwd2 T C 5: 63,962,374 (GRCm39) C653R possibly damaging Het
Obscn A G 11: 58,890,393 (GRCm39) Y7380H unknown Het
Or13a18 A G 7: 140,190,594 (GRCm39) T172A probably benign Het
Or8b3b C A 9: 38,583,866 (GRCm39) R291S probably damaging Het
Or8j3 A C 2: 86,028,661 (GRCm39) V145G probably damaging Het
Or8s8 C T 15: 98,354,647 (GRCm39) A152V probably damaging Het
Ptk2 A T 15: 73,148,714 (GRCm39) M409K probably damaging Het
Ptpn11 T C 5: 121,292,589 (GRCm39) T253A probably benign Het
Rnf14 T C 18: 38,434,723 (GRCm39) S57P possibly damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Slco1b2 A C 6: 141,609,396 (GRCm39) I269L probably benign Het
Smchd1 A G 17: 71,656,714 (GRCm39) Y1918H probably benign Het
Spag17 A T 3: 100,031,501 (GRCm39) I2255F possibly damaging Het
Spata31g1 A G 4: 42,972,511 (GRCm39) M615V probably benign Het
Tnnt2 A G 1: 135,777,172 (GRCm39) M199V probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn2r73 T A 7: 85,507,429 (GRCm39) I628L probably benign Het
Zc2hc1b C A 10: 13,047,055 (GRCm39) E19* 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
IGL02231:Rabl6 APN 2 25,488,196 (GRCm39) missense probably benign 0.41
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
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
Predicted Primers PCR Primer
(F):5'- AATGTAGAGTGGGCCAGACC -3'
(R):5'- CTCCTAGAATGTGGGATTTAGCC -3'

Sequencing Primer
(F):5'- CCACATGGGGGCAGACATAATG -3'
(R):5'- GCTCTTCATGACCTTCAGGAG -3'
Posted On 2017-07-14