Incidental Mutation 'IGL03278:Rab37'
ID415489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab37
Ensembl Gene ENSMUSG00000020732
Gene NameRAB37, member RAS oncogene family
SynonymsB230331O03Rik, B230354I04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03278
Quality Score
Status
Chromosome11
Chromosomal Location115091431-115162236 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 115159691 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 121 (I121L)
Ref Sequence ENSEMBL: ENSMUSP00000065016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]
Predicted Effect probably benign
Transcript: ENSMUST00000021076
AA Change: I128L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: I128L

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 possibly damaging
Transcript: ENSMUST00000067754
AA Change: I121L

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: I121L

DomainStartEndE-ValueType
RAB 23 187 1.27e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156383
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pkmyt1 A G 17: 23,734,247 E259G probably damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Rab37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02057:Rab37 APN 11 115160717 missense probably benign 0.00
R0051:Rab37 UTSW 11 115158665 missense probably damaging 1.00
R0360:Rab37 UTSW 11 115156964 missense probably damaging 1.00
R0364:Rab37 UTSW 11 115156964 missense probably damaging 1.00
R0592:Rab37 UTSW 11 115160523 splice site probably benign
R0639:Rab37 UTSW 11 115158702 missense probably benign 0.04
R1958:Rab37 UTSW 11 115160351 missense probably damaging 1.00
R4301:Rab37 UTSW 11 115158564 missense possibly damaging 0.53
R5423:Rab37 UTSW 11 115157027 missense possibly damaging 0.63
R6196:Rab37 UTSW 11 115160306 missense probably benign 0.30
R6488:Rab37 UTSW 11 115157963 missense probably benign 0.01
R7539:Rab37 UTSW 11 115160661 missense probably benign 0.00
R8075:Rab37 UTSW 11 115091933 critical splice donor site probably null
Posted On2016-08-02