Incidental Mutation 'IGL02514:Rabl6'
ID296692
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 #IGL02514
Quality Score
Status
Chromosome2
Chromosomal Location25583018-25608521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 25608176 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 23 (A23S)
Ref Sequence ENSEMBL: ENSMUSP00000058746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028309] [ENSMUST00000058137]
Predicted Effect probably benign
Transcript: ENSMUST00000028309
SMART Domains Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940

DomainStartEndE-ValueType
coiled coil region 118 147 N/A INTRINSIC
low complexity region 171 183 N/A INTRINSIC
coiled coil region 321 406 N/A INTRINSIC
low complexity region 524 534 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058137
AA Change: A23S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: A23S

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 noncoding transcript
Transcript: ENSMUST00000129520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155684
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,852,171 C114* probably null Het
4933421I07Rik A G 7: 42,447,557 M110T probably damaging Het
Amer1 A G X: 95,426,511 V667A possibly damaging Het
Casr C T 16: 36,500,325 G487E probably damaging Het
Catsperd G A 17: 56,661,271 G552D probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Celsr2 A G 3: 108,397,510 V2208A probably benign Het
Clca4a G A 3: 144,955,071 S664F probably damaging Het
Ddx23 A T 15: 98,658,318 S40T unknown Het
Dhodh G A 8: 109,606,264 R58* probably null Het
Dhx36 A G 3: 62,500,898 L173S possibly damaging Het
Dnaaf5 C T 5: 139,174,117 probably benign Het
Dnah3 T C 7: 119,966,247 D2546G probably damaging Het
Eef2 T G 10: 81,179,593 I316S probably benign Het
Efcab6 T C 15: 84,032,942 D139G possibly damaging Het
Efcab6 A T 15: 83,871,311 probably benign Het
Eif4g3 T A 4: 138,126,194 I357N possibly damaging Het
Elovl2 G A 13: 41,194,771 T44M probably benign Het
Fam92a T G 4: 12,164,080 probably benign Het
Fbln1 T A 15: 85,244,262 C553* probably null Het
Fip1l1 T C 5: 74,571,152 V310A probably damaging Het
Gast A G 11: 100,336,892 D100G probably benign Het
Gk G A X: 85,713,364 probably benign Het
Gm1330 G A 2: 148,999,385 probably benign Het
Hspg2 C A 4: 137,569,576 T4355K probably benign Het
Ipo7 T C 7: 110,048,828 V639A possibly damaging Het
Lrrc7 T C 3: 158,160,292 M1271V probably damaging Het
Msantd1 T A 5: 34,921,543 S141T probably damaging Het
Myo9b T C 8: 71,291,006 I237T probably damaging Het
Olfr1129 G A 2: 87,575,193 M36I probably benign Het
Olfr1286 A C 2: 111,420,772 Y60D probably damaging Het
Olfr322 T C 11: 58,665,643 F28S probably damaging Het
Olfr532 A T 7: 140,419,594 Y60N probably damaging Het
Pan2 A T 10: 128,310,741 M416L possibly damaging Het
Pank4 T C 4: 154,970,465 F209L probably damaging Het
Pcdhb13 A T 18: 37,442,991 I141L possibly damaging Het
Pik3r2 A G 8: 70,770,592 Y422H probably benign Het
Pramef17 T C 4: 143,993,202 K198E probably benign Het
Prdm4 A T 10: 85,907,917 I158N probably damaging Het
Prl T G 13: 27,059,394 L14R probably damaging Het
Rbm15b T A 9: 106,884,977 H664L probably damaging Het
Rhobtb1 T A 10: 69,289,641 H618Q probably benign Het
Slc15a1 T C 14: 121,487,040 K140R probably damaging Het
Slc6a17 A G 3: 107,495,677 S145P possibly damaging Het
Snx31 T C 15: 36,525,582 T324A probably damaging Het
Spatc1l T C 10: 76,569,656 probably benign Het
Taar7b A G 10: 24,000,984 N349S probably benign Het
Tbx19 T C 1: 165,153,704 I74V probably benign Het
Tmtc2 G A 10: 105,190,099 T836I possibly damaging Het
Vmn2r72 C A 7: 85,738,699 M552I possibly damaging Het
Vsig10l A G 7: 43,463,914 T199A probably benign Het
Washc4 A T 10: 83,570,083 E481V probably damaging Het
Zc3h15 T A 2: 83,653,381 N33K probably damaging 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
IGL03036:Rabl6 APN 2 25584856 missense probably benign 0.00
IGL03278:Rabl6 APN 2 25583822 unclassified probably benign
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
R7839:Rabl6 UTSW 2 25592817 missense probably damaging 0.97
R7889:Rabl6 UTSW 2 25584774 critical splice donor site probably null
R7922:Rabl6 UTSW 2 25592817 missense probably damaging 0.97
R7972:Rabl6 UTSW 2 25584774 critical splice donor site probably null
Posted On2015-04-16