Incidental Mutation 'IGL01533:Rab12'
ID89837
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? Non essential (E-score: 0.000) question?
Stock #IGL01533
Quality Score
Status
Chromosome17
Chromosomal Location66494512-66519717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66497435 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 176 (I176K)
Ref Sequence ENSEMBL: ENSMUSP00000128645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070538] [ENSMUST00000167962]
Predicted Effect probably damaging
Transcript: ENSMUST00000070538
AA Change: I224K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: I224K

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: I176K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: I176K

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,405,418 E757* probably null Het
Arhgap15 T C 2: 44,243,153 V357A probably damaging Het
Asb13 T C 13: 3,642,164 V48A probably benign Het
Bbs7 T C 3: 36,610,235 R74G possibly damaging Het
Capn11 T C 17: 45,632,904 H568R probably benign Het
Cbx5 T C 15: 103,205,634 E61G probably damaging Het
Ccdc158 T C 5: 92,609,956 probably null Het
Col14a1 C A 15: 55,420,840 N832K unknown Het
Cyp2a4 A T 7: 26,308,544 K125N probably damaging Het
Dhx16 T C 17: 35,882,047 L215P probably damaging Het
Dtx4 T C 19: 12,478,215 M480V possibly damaging Het
Edaradd A G 13: 12,478,582 probably benign Het
Galnt13 T A 2: 54,880,132 M312K probably damaging Het
Gcdh T A 8: 84,889,362 R337W probably damaging Het
Gm28557 A T 13: 67,071,332 C109* probably null Het
Gpr22 C T 12: 31,708,710 probably benign Het
Gria4 T G 9: 4,502,395 L379F probably damaging Het
Gxylt2 T C 6: 100,783,137 L211P probably damaging Het
Igsf10 T A 3: 59,319,230 I2341F probably damaging Het
Macf1 T C 4: 123,473,873 D2365G probably damaging Het
Morc2b A G 17: 33,135,721 probably benign Het
Ncoa3 T C 2: 166,055,025 S579P probably benign Het
Nlgn1 T C 3: 25,436,363 N400S possibly damaging Het
Olfr1141 C A 2: 87,753,068 R308S probably benign Het
Olfr146 C T 9: 39,018,801 A247T probably damaging Het
Pi4ka A G 16: 17,308,201 S1102P probably benign Het
Polr1e A G 4: 45,019,328 Y59C probably damaging Het
Prex2 C T 1: 11,186,741 Q1226* probably null Het
Ryr2 A T 13: 11,721,790 N2250K probably damaging Het
Sbf1 T C 15: 89,288,716 T1865A probably damaging Het
Sema6b G A 17: 56,129,499 probably benign Het
Smarcb1 C T 10: 75,916,768 probably null Het
Sos1 A G 17: 80,415,082 L845S probably damaging Het
Stat4 T A 1: 52,098,419 N456K probably damaging Het
Tex264 A G 9: 106,673,599 I133T probably benign Het
Thoc1 T C 18: 9,962,376 V87A probably benign Het
Tmem131 C T 1: 36,818,722 D778N probably damaging Het
Tspan14 A G 14: 40,916,819 I88T probably benign Het
Ttn A G 2: 76,951,941 S984P probably damaging Het
Ttn C A 2: 76,732,574 V28679L possibly damaging Het
Vangl1 T C 3: 102,163,351 E423G possibly damaging Het
Other mutations in Rab12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:Rab12 APN 17 66497409 missense probably damaging 1.00
IGL01702:Rab12 APN 17 66519389 missense probably damaging 1.00
IGL02373:Rab12 APN 17 66498065 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 On2013-12-03