Incidental Mutation 'R8174:Rabl3'
ID 634250
Institutional Source Beutler Lab
Gene Symbol Rabl3
Ensembl Gene ENSMUSG00000022827
Gene Name RAB, member RAS oncogene family-like 3
Synonyms 4930553C05Rik
MMRRC Submission 067599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8174 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 37360247-37392747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37377225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 61 (Y61H)
Ref Sequence ENSEMBL: ENSMUSP00000023524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023524] [ENSMUST00000130028]
AlphaFold Q9D4V7
Predicted Effect probably damaging
Transcript: ENSMUST00000023524
AA Change: Y61H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023524
Gene: ENSMUSG00000022827
AA Change: Y61H

DomainStartEndE-ValueType
Pfam:MMR_HSR1 8 128 8.5e-8 PFAM
Pfam:Roc 8 132 1.2e-16 PFAM
Pfam:Ras 8 178 7.9e-15 PFAM
Pfam:Gtr1_RagA 8 181 2.1e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130028
AA Change: Y61H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122441
Gene: ENSMUSG00000022827
AA Change: Y61H

DomainStartEndE-ValueType
Pfam:Arf 1 126 3.3e-6 PFAM
Pfam:Gtr1_RagA 8 118 5.5e-8 PFAM
Pfam:MMR_HSR1 8 127 9.8e-8 PFAM
Pfam:Ras 8 128 9.5e-15 PFAM
Pfam:Miro 8 129 2.3e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Asxl3 T C 18: 22,650,800 (GRCm39) S930P probably benign Het
Cachd1 T A 4: 100,823,466 (GRCm39) I506N probably damaging Het
Calm1 G T 12: 100,171,967 (GRCm39) V140L probably benign Het
Cdsn A T 17: 35,866,529 (GRCm39) K353* probably null Het
Cldn11 T C 3: 31,208,210 (GRCm39) V125A probably benign Het
Ddx60 G A 8: 62,470,284 (GRCm39) probably null Het
Dlg2 A G 7: 91,589,248 (GRCm39) I216V probably benign Het
Dnah5 A G 15: 28,311,279 (GRCm39) probably null Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Erap1 A T 13: 74,794,683 (GRCm39) Y114F probably benign Het
Gm14443 G A 2: 175,011,468 (GRCm39) P326L probably damaging Het
Gm2042 T A 12: 87,926,928 (GRCm39) L415Q probably damaging Het
Gm8797 T C 3: 5,816,094 (GRCm39) I44T probably benign Het
Matn2 C A 15: 34,422,555 (GRCm39) F547L probably benign Het
Mpc2 T A 1: 165,308,458 (GRCm39) probably null Het
Or5b12b A G 19: 12,861,268 (GRCm39) T8A probably benign Het
Or7d10 A C 9: 19,832,020 (GRCm39) T172P probably damaging Het
Pcnx4 T A 12: 72,603,687 (GRCm39) L536Q probably damaging Het
Phlpp2 G A 8: 110,595,321 (GRCm39) R24H unknown Het
Pkmyt1 A T 17: 23,952,813 (GRCm39) D123V probably damaging Het
Polg A T 7: 79,106,466 (GRCm39) M668K probably benign Het
Ppp1r12a G T 10: 108,107,598 (GRCm39) A974S probably benign Het
Ppp2r3d T C 9: 101,090,501 (GRCm39) probably benign Het
Rap2a T A 14: 120,716,269 (GRCm39) I44N probably damaging Het
Rev3l T C 10: 39,735,111 (GRCm39) V2779A probably damaging Het
Rnf43 G T 11: 87,622,057 (GRCm39) R259L probably benign Het
Rspry1 T A 8: 95,376,450 (GRCm39) L448Q probably damaging Het
Slc43a2 T G 11: 75,434,193 (GRCm39) probably null Het
Slc6a5 A G 7: 49,598,057 (GRCm39) I640M probably benign Het
Sp140l1 T G 1: 85,077,261 (GRCm39) S102R probably damaging Het
Srrm2 C T 17: 24,034,297 (GRCm39) P314S unknown Het
Strn4 C T 7: 16,562,733 (GRCm39) R291C probably damaging Het
Syt4 T A 18: 31,577,230 (GRCm39) R41S probably benign Het
Tfb1m T C 17: 3,569,855 (GRCm39) D337G probably benign Het
Togaram1 G T 12: 65,029,465 (GRCm39) D963Y possibly damaging Het
Tpsg1 T C 17: 25,591,564 (GRCm39) C55R probably damaging Het
Tram1l1 A G 3: 124,115,911 (GRCm39) K357R probably benign Het
Veph1 A G 3: 66,171,316 (GRCm39) I42T probably damaging Het
Vps13b C G 15: 35,709,456 (GRCm39) S1801* probably null Het
Zcwpw1 G A 5: 137,817,839 (GRCm39) probably null Het
Zfp266 G A 9: 20,418,110 (GRCm39) probably benign Het
Zmym5 T A 14: 57,031,918 (GRCm39) R397* probably null Het
Other mutations in Rabl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Rabl3 APN 16 37,362,287 (GRCm39) missense probably damaging 1.00
xiamen UTSW 16 37,362,293 (GRCm39) missense probably null 1.00
R1397:Rabl3 UTSW 16 37,360,336 (GRCm39) splice site probably benign
R1990:Rabl3 UTSW 16 37,384,079 (GRCm39) missense probably benign
R2125:Rabl3 UTSW 16 37,377,175 (GRCm39) splice site probably null
R2357:Rabl3 UTSW 16 37,362,293 (GRCm39) missense probably null 1.00
R4945:Rabl3 UTSW 16 37,362,220 (GRCm39) missense probably damaging 1.00
R7648:Rabl3 UTSW 16 37,384,120 (GRCm39) missense probably damaging 0.98
R9579:Rabl3 UTSW 16 37,362,230 (GRCm39) missense probably damaging 0.99
R9749:Rabl3 UTSW 16 37,377,190 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AAGTGTGGGTCACATGACAC -3'
(R):5'- CGGTAAGATGAGTCCAGCATG -3'

Sequencing Primer
(F):5'- GGTCACATGACACAGGGTG -3'
(R):5'- CATGTGGTGGCACTTCGTACC -3'
Posted On 2020-07-13