Incidental Mutation 'R0051:Rab37'
ID 15924
Institutional Source Beutler Lab
Gene Symbol Rab37
Ensembl Gene ENSMUSG00000020732
Gene Name RAB37, member RAS oncogene family
Synonyms B230354I04Rik, B230331O03Rik
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0051 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 114982257-115053062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115049491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 100 (L100P)
Ref Sequence ENSEMBL: ENSMUSP00000065016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021076
AA Change: L107P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: L107P

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 31 194 9.38e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021077
SMART Domains Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733

DomainStartEndE-ValueType
PDZ 22 94 2.9e-20 SMART
PDZ 157 229 6.03e-18 SMART
Pfam:EBP50_C 230 355 1.4e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000067754
AA Change: L100P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: L100P

DomainStartEndE-ValueType
RAB 23 187 1.27e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156383
Meta Mutation Damage Score 0.9592 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.7%
  • 10x: 76.8%
  • 20x: 60.8%
Validation Efficiency 84% (69/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330444E15Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Ankrd11 C A 8: 123,616,481 (GRCm39) C2457F probably damaging Het
Anks3 G C 16: 4,765,613 (GRCm39) T163S probably benign Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Coq2 T C 5: 100,811,551 (GRCm39) N146S probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecpas A G 4: 58,832,729 (GRCm39) L877S probably damaging Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Galnt14 C A 17: 73,814,854 (GRCm39) R403L probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrpl4 C A 9: 20,918,964 (GRCm39) T203K probably damaging Het
Mtrf1l T C 10: 5,763,382 (GRCm39) K316E probably damaging Het
Nbeal1 T A 1: 60,349,422 (GRCm39) N2361K probably benign Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Ptprn A G 1: 75,228,898 (GRCm39) probably null Het
Rbm26 A C 14: 105,389,976 (GRCm39) V216G possibly damaging Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A G 5: 134,588,397 (GRCm39) L184P probably damaging Het
Tbx10 T C 19: 4,046,798 (GRCm39) probably null Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Ugt2a3 A G 5: 87,484,865 (GRCm39) V53A probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Other mutations in Rab37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02057:Rab37 APN 11 115,051,543 (GRCm39) missense probably benign 0.00
IGL03278:Rab37 APN 11 115,050,517 (GRCm39) missense possibly damaging 0.59
R0360:Rab37 UTSW 11 115,047,790 (GRCm39) missense probably damaging 1.00
R0364:Rab37 UTSW 11 115,047,790 (GRCm39) missense probably damaging 1.00
R0592:Rab37 UTSW 11 115,051,349 (GRCm39) splice site probably benign
R0639:Rab37 UTSW 11 115,049,528 (GRCm39) missense probably benign 0.04
R1958:Rab37 UTSW 11 115,051,177 (GRCm39) missense probably damaging 1.00
R4301:Rab37 UTSW 11 115,049,390 (GRCm39) missense possibly damaging 0.53
R5423:Rab37 UTSW 11 115,047,853 (GRCm39) missense possibly damaging 0.63
R6196:Rab37 UTSW 11 115,051,132 (GRCm39) missense probably benign 0.30
R6488:Rab37 UTSW 11 115,048,789 (GRCm39) missense probably benign 0.01
R7539:Rab37 UTSW 11 115,051,487 (GRCm39) missense probably benign 0.00
R8075:Rab37 UTSW 11 114,982,759 (GRCm39) critical splice donor site probably null
R9218:Rab37 UTSW 11 115,051,475 (GRCm39) missense probably damaging 1.00
R9296:Rab37 UTSW 11 115,045,065 (GRCm39) missense probably benign
Posted On 2013-01-08