Incidental Mutation 'IGL03278:Rabl6'
ID415499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabl6
Ensembl Gene ENSMUSG00000015087
Gene NameRAB, member RAS oncogene family-like 6
SynonymsRbel1, Rbel1a, B230208H17Rik, Rbel1b
Accession Numbers

Genbank: NM_001024616; MGI: 2442633

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03278
Quality Score
Status
Chromosome2
Chromosomal Location25583018-25608521 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 25583822 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000187017] [ENSMUST00000188161] [ENSMUST00000191602]
Predicted Effect unknown
Transcript: ENSMUST00000058137
AA Change: H716R
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: H716R

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: ENSMUST00000143855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181730
Predicted Effect probably benign
Transcript: ENSMUST00000187017
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
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Rabl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Rabl6 APN 2 25584120 unclassified probably benign
IGL00742:Rabl6 APN 2 25588687 missense probably damaging 0.96
IGL02231:Rabl6 APN 2 25598184 missense probably benign 0.41
IGL02424:Rabl6 APN 2 25587457 missense probably benign
IGL02514:Rabl6 APN 2 25608176 missense probably damaging 0.96
IGL03036:Rabl6 APN 2 25584856 missense probably benign 0.00
R0017:Rabl6 UTSW 2 25602567 splice site probably benign
R0269:Rabl6 UTSW 2 25586866 critical splice donor site probably null
R0442:Rabl6 UTSW 2 25587522 missense probably damaging 0.98
R0617:Rabl6 UTSW 2 25586866 critical splice donor site probably null
R0626:Rabl6 UTSW 2 25592766 critical splice donor site probably null
R1109:Rabl6 UTSW 2 25587526 missense probably damaging 1.00
R2034:Rabl6 UTSW 2 25585432 missense possibly damaging 0.59
R3914:Rabl6 UTSW 2 25588706 missense possibly damaging 0.91
R4255:Rabl6 UTSW 2 25584779 missense possibly damaging 0.91
R5177:Rabl6 UTSW 2 25585373 missense probably benign 0.18
R5389:Rabl6 UTSW 2 25588654 missense probably damaging 0.96
R6082:Rabl6 UTSW 2 25583825 unclassified probably benign
R6243:Rabl6 UTSW 2 25585403 missense probably damaging 0.98
R6430:Rabl6 UTSW 2 25584837 missense probably damaging 0.96
R6501:Rabl6 UTSW 2 25602447 missense possibly damaging 0.92
R7485:Rabl6 UTSW 2 25584141 missense unknown
Posted On2016-08-02