Incidental Mutation 'R4039:Rab12'
ID313867
Institutional Source Beutler Lab
Gene Symbol Rab12
Ensembl Gene ENSMUSG00000023460
Gene NameRAB12, member RAS oncogene family
Synonyms
MMRRC Submission 041614-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock #R4039 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location66494512-66519717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66500401 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 111 (Y111C)
Ref Sequence ENSEMBL: ENSMUSP00000128645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070538] [ENSMUST00000167962]
Predicted Effect probably benign
Transcript: ENSMUST00000070538
AA Change: Y159C

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: Y159C

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 possibly damaging
Transcript: ENSMUST00000167962
AA Change: Y111C

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: Y111C

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
Meta Mutation Damage Score 0.45 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A T 15: 60,016,366 L75Q possibly damaging Het
Cep290 T C 10: 100,512,401 probably null Het
Col11a2 A G 17: 34,045,774 T268A probably benign Het
Crnkl1 T A 2: 145,932,327 D72V possibly damaging Het
Csn2 C T 5: 87,698,076 M1I probably null Het
Dhcr24 T C 4: 106,573,878 F255L probably benign Het
Epn2 A G 11: 61,546,522 Y75H probably damaging Het
Galnt3 A T 2: 66,085,327 H563Q probably damaging Het
Galnt9 T C 5: 110,614,208 V37A probably damaging Het
Glb1l3 A C 9: 26,829,047 M329R probably damaging Het
Gorab A T 1: 163,397,066 D55E possibly damaging Het
Herc2 G A 7: 56,156,411 R2318Q probably damaging Het
Hspa2 T C 12: 76,405,768 V412A probably damaging Het
Hspb8 A G 5: 116,409,344 V193A probably benign Het
Ly75 A G 2: 60,352,995 L481P probably damaging Het
Lyzl1 T C 18: 4,169,140 L48P probably damaging Het
Mettl27 C T 5: 134,940,609 Q212* probably null Het
Mmachc T A 4: 116,706,018 T47S probably damaging Het
Ncam2 C T 16: 81,490,323 S375L probably benign Het
Ogfrl1 T C 1: 23,378,964 probably benign Het
Parp9 T C 16: 35,960,047 L461P probably damaging Het
Pcsk7 A G 9: 45,928,007 probably null Het
Plekhh1 C A 12: 79,055,183 H342Q probably benign Het
Prdm13 T G 4: 21,685,774 probably benign Het
Prkaa2 T C 4: 105,051,247 N144D probably damaging Het
Ptpn12 A T 5: 21,002,510 Y283* probably null Het
Ralgapa1 T C 12: 55,795,701 N61S probably damaging Het
Rims1 T C 1: 22,475,712 S537G probably damaging Het
Sash1 G T 10: 8,729,627 P1000T probably damaging Het
Skint5 G T 4: 113,885,814 T352K unknown Het
Slc12a5 A G 2: 164,992,330 E757G probably benign Het
Sycp2 C A 2: 178,380,927 M470I possibly damaging Het
Szt2 T C 4: 118,364,952 probably benign Het
Tbc1d1 A G 5: 64,316,428 T765A probably damaging Het
Tgfbr2 T C 9: 116,175,037 M1V probably null Het
Tnfrsf11a A G 1: 105,827,739 probably null Het
Trim43b A G 9: 89,091,347 L111P probably damaging Het
Ttbk2 A T 2: 120,745,795 S900R probably benign Het
Unc79 G A 12: 103,074,949 C747Y possibly damaging Het
Vmn1r218 T C 13: 23,136,801 V26A possibly damaging Het
Vmn2r115 A T 17: 23,345,103 Y83F probably benign Het
Zfp536 A T 7: 37,569,550 L147Q probably damaging Het
Zfp931 T A 2: 178,067,984 Q203L possibly damaging Het
Zswim2 G A 2: 83,915,994 H367Y 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
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
R4863:Rab12 UTSW 17 66498108 missense probably damaging 1.00
R5568:Rab12 UTSW 17 66497423 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACTATGGATGCTGAGTGC -3'
(R):5'- TGTCTCCTAATGGTGTAGATCAGC -3'

Sequencing Primer
(F):5'- GCTCTATTCCCTTTAACAGTGAGATG -3'
(R):5'- TAATGGTGTAGATCAGCCCGGC -3'
Posted On2015-04-30