Incidental Mutation 'IGL02679:Rabl3'
ID303279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabl3
Ensembl Gene ENSMUSG00000022827
Gene NameRAB, member RAS oncogene family-like 3
Synonyms4930553C05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02679
Quality Score
Status
Chromosome16
Chromosomal Location37539885-37572385 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 37541925 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 42 (S42L)
Ref Sequence ENSEMBL: ENSMUSP00000122441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023524] [ENSMUST00000023525] [ENSMUST00000130028]
Predicted Effect probably damaging
Transcript: ENSMUST00000023524
AA Change: S42L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023524
Gene: ENSMUSG00000022827
AA Change: S42L

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 benign
Transcript: ENSMUST00000023525
SMART Domains Protein: ENSMUSP00000023525
Gene: ENSMUSG00000022828

DomainStartEndE-ValueType
TFIIE 28 175 2.69e-74 SMART
low complexity region 221 233 N/A INTRINSIC
low complexity region 332 351 N/A INTRINSIC
Pfam:TFIIE-A_C 354 440 9.9e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128036
Predicted Effect probably damaging
Transcript: ENSMUST00000130028
AA Change: S42L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122441
Gene: ENSMUSG00000022827
AA Change: S42L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130350
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,182,979 probably benign Het
Adam5 A T 8: 24,806,526 Y302N probably damaging Het
Ankrd34c A T 9: 89,730,079 Y70N probably damaging Het
Asph G A 4: 9,601,349 P190S possibly damaging Het
Atp6v1h T C 1: 5,124,302 C235R probably damaging Het
Brwd1 A G 16: 96,002,823 L2049P probably benign Het
Capn2 T A 1: 182,472,584 I614F probably benign Het
Ccdc126 T A 6: 49,334,061 M1K probably null Het
Cdh9 T C 15: 16,832,230 I401T probably damaging Het
Cep57l1 T C 10: 41,729,386 E121G probably damaging Het
Cfap46 A G 7: 139,614,470 I2276T probably damaging Het
Cnnm3 T C 1: 36,520,158 S490P probably benign Het
D430041D05Rik C T 2: 104,230,305 V731I possibly damaging Het
Fgf3 C A 7: 144,840,750 N100K probably damaging Het
Gas7 G A 11: 67,675,727 probably null Het
Gfm1 C T 3: 67,474,767 P725S possibly damaging Het
Gimap4 T A 6: 48,690,495 C61* probably null Het
Greb1 C T 12: 16,708,723 R664Q probably damaging Het
Kpnb1 T A 11: 97,177,260 I295F possibly damaging Het
Lamc3 A G 2: 31,945,398 E1577G probably benign Het
Lrrk1 C T 7: 66,274,872 V235M probably damaging Het
Mipol1 T A 12: 57,306,043 V56E possibly damaging Het
Mycbp2 T C 14: 103,205,185 I1927V probably benign Het
Ncaph A T 2: 127,124,864 N223K possibly damaging Het
Nipbl A G 15: 8,295,553 M2542T probably benign Het
Nolc1 C A 19: 46,083,029 probably benign Het
Olfr16 G A 1: 172,957,176 C127Y probably damaging Het
Olfr555 A G 7: 102,659,177 M119V possibly damaging Het
Pkhd1l1 T C 15: 44,530,045 probably null Het
Ppat A T 5: 76,919,469 C306S probably benign Het
Ptpn13 A T 5: 103,569,454 M1821L possibly damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfx3 G A 19: 27,849,737 H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 M312V possibly damaging Het
Slc10a2 T A 8: 5,098,499 T149S probably damaging Het
Spata21 T C 4: 141,111,265 probably benign Het
Stx8 G T 11: 67,969,772 W6C probably damaging Het
Tcn2 T C 11: 3,927,504 E48G possibly damaging Het
Tctex1d2 T C 16: 32,425,307 V107A possibly damaging Het
Tecpr1 A T 5: 144,206,546 N670K probably benign Het
Tldc1 A T 8: 119,772,410 D114E probably benign Het
Tmem255b G A 8: 13,457,055 M240I probably benign Het
Ubr4 G A 4: 139,459,134 E651K probably damaging Het
Ubr5 T C 15: 38,002,314 T1498A probably benign Het
Vmn2r95 G A 17: 18,443,854 C445Y probably damaging Het
Zfp429 T A 13: 67,399,736 probably benign Het
Zfp804b T G 5: 6,771,392 D557A possibly damaging Het
Other mutations in Rabl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
xiamen UTSW 16 37541931 missense probably null 1.00
R1397:Rabl3 UTSW 16 37539974 splice site probably benign
R1990:Rabl3 UTSW 16 37563717 missense probably benign
R2125:Rabl3 UTSW 16 37556813 splice site probably null
R2357:Rabl3 UTSW 16 37541931 missense probably null 1.00
R4945:Rabl3 UTSW 16 37541858 missense probably damaging 1.00
R7648:Rabl3 UTSW 16 37563758 missense probably damaging 0.98
Posted On2015-04-16