Incidental Mutation 'IGL02373:Rab12'
ID290990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab12
Ensembl Gene ENSMUSG00000023460
Gene NameRAB12, member RAS oncogene family
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.281) question?
Stock #IGL02373
Quality Score
Status
Chromosome17
Chromosomal Location66494512-66519717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66498065 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 156 (L156P)
Ref Sequence ENSEMBL: ENSMUSP00000128645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070538] [ENSMUST00000167962]
Predicted Effect probably damaging
Transcript: ENSMUST00000070538
AA Change: L204P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: L204P

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
low complexity region 75 86 N/A INTRINSIC
RAB 90 254 2.49e-97 SMART
low complexity region 273 286 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155026
Predicted Effect probably damaging
Transcript: ENSMUST00000167962
AA Change: L156P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: L156P

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
RAB 42 206 2.49e-97 SMART
low complexity region 225 238 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,249,805 L462F probably damaging Het
Adgrv1 T C 13: 81,459,713 D4080G possibly damaging Het
Apc A C 18: 34,316,159 D2002A probably damaging Het
Apobr T A 7: 126,585,391 F25I probably damaging Het
Cyp4a10 T A 4: 115,521,077 L120* probably null Het
Daam2 A G 17: 49,473,380 S704P probably damaging Het
Dcst1 G T 3: 89,357,891 N217K probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fmn1 C A 2: 113,364,126 P57Q unknown Het
Galnt1 G A 18: 24,280,035 G464D possibly damaging Het
Ggcx T A 6: 72,427,919 W437R probably damaging Het
Gm11487 T C 4: 73,403,643 M52V probably benign Het
Igkv13-54-1 T C 6: 69,617,320 noncoding transcript Het
Iglon5 T C 7: 43,479,219 E58G probably benign Het
Met C T 6: 17,491,529 P97S probably damaging Het
Myg1 T A 15: 102,336,833 M158K probably damaging Het
Ncald T A 15: 37,372,209 M131L probably benign Het
Nipa2 T C 7: 55,933,128 I290V probably benign Het
Olfr1307 C A 2: 111,944,833 V208L probably benign Het
Olfr507 A T 7: 108,622,103 Y97F probably benign Het
Olfr818 A G 10: 129,945,465 L84S probably benign Het
Ppfia3 C T 7: 45,358,849 R48Q probably damaging Het
Slc28a3 C T 13: 58,578,404 probably null Het
Slc4a11 T C 2: 130,684,898 N770S probably benign Het
Tanc1 T C 2: 59,796,028 probably null Het
Vmn2r-ps130 A T 17: 23,076,892 R679* probably null Het
Vwa5b2 G A 16: 20,604,844 R1169H probably damaging Het
Other mutations in Rab12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Rab12 APN 17 66497435 missense probably damaging 0.97
IGL01541:Rab12 APN 17 66497409 missense probably damaging 1.00
IGL01702:Rab12 APN 17 66519389 missense probably damaging 1.00
IGL02656:Rab12 APN 17 66506054 missense probably damaging 1.00
IGL02826:Rab12 APN 17 66498116 splice site probably benign
R0165:Rab12 UTSW 17 66500317 missense probably damaging 1.00
R0193:Rab12 UTSW 17 66500362 missense probably damaging 1.00
R1716:Rab12 UTSW 17 66500320 missense possibly damaging 0.89
R4039:Rab12 UTSW 17 66500401 missense possibly damaging 0.70
R4863:Rab12 UTSW 17 66498108 missense probably damaging 1.00
R5568:Rab12 UTSW 17 66497423 missense probably damaging 1.00
Posted On2015-04-16