Incidental Mutation 'R0442:Rabl6'
ID 39201
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 038643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0442 (G1)
Quality Score 162
Status Validated
Chromosome 2
Chromosomal Location 25473029-25498493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25477534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 305 (S305R)
Ref Sequence ENSEMBL: ENSMUSP00000058746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058137]
AlphaFold Q5U3K5
Predicted Effect probably damaging
Transcript: ENSMUST00000058137
AA Change: S305R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087
AA Change: S305R

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: 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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.5%
  • 10x: 93.4%
  • 20x: 81.2%
Validation Efficiency 99% (70/71)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,435,551 (GRCm39) N816Y probably damaging Het
Arfgef3 T C 10: 18,553,563 (GRCm39) probably benign Het
Cd200 T A 16: 45,217,518 (GRCm39) S58C probably damaging Het
Cep128 C T 12: 91,233,545 (GRCm39) E508K probably damaging Het
Dnah2 C A 11: 69,339,368 (GRCm39) L3046F probably damaging Het
Duox2 T C 2: 122,119,813 (GRCm39) N872D probably benign Het
Fam90a1a C T 8: 22,453,074 (GRCm39) T143I probably benign Het
Fdft1 T C 14: 63,400,798 (GRCm39) T112A probably benign Het
Gimap9 G T 6: 48,655,000 (GRCm39) G196* probably null Het
Grhl1 G A 12: 24,662,169 (GRCm39) R536Q probably damaging Het
Gtpbp3 T A 8: 71,944,135 (GRCm39) V293E probably damaging Het
Hcn3 A T 3: 89,058,847 (GRCm39) F251Y probably damaging Het
Hectd4 T A 5: 121,462,045 (GRCm39) C971S possibly damaging Het
Helz2 T A 2: 180,874,002 (GRCm39) D2164V probably damaging Het
Hif1an T G 19: 44,554,451 (GRCm39) L188R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iqgap3 C T 3: 88,023,266 (GRCm39) P519L probably damaging Het
Jakmip1 T G 5: 37,292,897 (GRCm39) probably null Het
Klra1 T C 6: 130,349,835 (GRCm39) Y201C probably damaging Het
Minpp1 T C 19: 32,471,348 (GRCm39) F299L possibly damaging Het
Myb A G 10: 21,002,095 (GRCm39) S749P probably benign Het
Myo3b T C 2: 70,069,305 (GRCm39) probably null Het
Naip1 T A 13: 100,581,024 (GRCm39) R74S probably benign Het
Nt5m A G 11: 59,765,445 (GRCm39) T158A possibly damaging Het
Obscn A T 11: 58,893,000 (GRCm39) probably benign Het
Or5af1 T A 11: 58,722,257 (GRCm39) Y92* probably null Het
Or5b119 T G 19: 13,457,412 (GRCm39) D50A probably damaging Het
Or6c210 T C 10: 129,495,693 (GRCm39) I6T probably benign Het
Otogl T A 10: 107,712,716 (GRCm39) T543S probably damaging Het
Pds5b T C 5: 150,640,009 (GRCm39) probably benign Het
Plekhm1 A G 11: 103,288,000 (GRCm39) M49T possibly damaging Het
Rad54b G A 4: 11,609,480 (GRCm39) probably benign Het
Rad54b C A 4: 11,610,362 (GRCm39) R660S probably benign Het
Rexo5 T C 7: 119,442,508 (GRCm39) L542P probably damaging Het
Rp1 C T 1: 4,416,970 (GRCm39) D1381N probably benign Het
Scnn1a T G 6: 125,316,100 (GRCm39) M346R probably damaging Het
Sirpb1c A G 3: 15,856,710 (GRCm39) I380T probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sstr3 A T 15: 78,424,597 (GRCm39) L50Q probably damaging Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Sun5 T C 2: 153,712,872 (GRCm39) D16G possibly damaging Het
Svil A T 18: 5,046,870 (GRCm39) T39S probably damaging Het
Taar1 A G 10: 23,796,380 (GRCm39) Y26C possibly damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Use1 T C 8: 71,819,702 (GRCm39) probably benign Het
Usp54 T C 14: 20,657,277 (GRCm39) Y7C probably damaging Het
Zbtb37 A G 1: 160,859,918 (GRCm39) F129S possibly damaging Het
Zfhx2 T C 14: 55,304,357 (GRCm39) H1209R possibly damaging Het
Zfp28 T C 7: 6,397,998 (GRCm39) L811P probably damaging Het
Zfp616 T C 11: 73,975,321 (GRCm39) I530T possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACAGCCGAGAGATGATACTGCGAC -3'
(R):5'- GCTTGGGAGCTACAGTGCTAAAGAG -3'

Sequencing Primer
(F):5'- ATACTGCGACGCTgggc -3'
(R):5'- TGTAAAAGACACACTGATGCCTG -3'
Posted On 2013-05-23