Incidental Mutation 'R4039:Rab12'
ID 313867
Institutional Source Beutler Lab
Gene Symbol Rab12
Ensembl Gene ENSMUSG00000023460
Gene Name RAB12, member RAS oncogene family
Synonyms 2900054P15Rik
MMRRC Submission 041614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4039 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 66801507-66826712 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66807396 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P35283
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 0.9559 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: 59,888,215 (GRCm39) L75Q possibly damaging Het
Cep290 T C 10: 100,348,263 (GRCm39) probably null Het
Col11a2 A G 17: 34,264,748 (GRCm39) T268A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Csn2 C T 5: 87,845,935 (GRCm39) M1I probably null Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Epn2 A G 11: 61,437,348 (GRCm39) Y75H probably damaging Het
Galnt3 A T 2: 65,915,671 (GRCm39) H563Q probably damaging Het
Galnt9 T C 5: 110,762,074 (GRCm39) V37A probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gorab A T 1: 163,224,635 (GRCm39) D55E possibly damaging Het
Herc2 G A 7: 55,806,159 (GRCm39) R2318Q probably damaging Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Ly75 A G 2: 60,183,339 (GRCm39) L481P probably damaging Het
Lyzl1 T C 18: 4,169,140 (GRCm39) L48P probably damaging Het
Mettl27 C T 5: 134,969,463 (GRCm39) Q212* probably null Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncam2 C T 16: 81,287,211 (GRCm39) S375L probably benign Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Parp9 T C 16: 35,780,417 (GRCm39) L461P probably damaging Het
Pcsk7 A G 9: 45,839,305 (GRCm39) probably null Het
Plekhh1 C A 12: 79,101,957 (GRCm39) H342Q probably benign Het
Prdm13 T G 4: 21,685,774 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptpn12 A T 5: 21,207,508 (GRCm39) Y283* probably null Het
Ralgapa1 T C 12: 55,842,486 (GRCm39) N61S probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Sash1 G T 10: 8,605,391 (GRCm39) P1000T probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc12a5 A G 2: 164,834,250 (GRCm39) E757G probably benign Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Szt2 T C 4: 118,222,149 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,473,771 (GRCm39) T765A probably damaging Het
Tgfbr2 T C 9: 116,004,105 (GRCm39) M1V probably null Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Trim43b A G 9: 88,973,400 (GRCm39) L111P probably damaging Het
Ttbk2 A T 2: 120,576,276 (GRCm39) S900R probably benign Het
Unc79 G A 12: 103,041,208 (GRCm39) C747Y possibly damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Vmn2r115 A T 17: 23,564,077 (GRCm39) Y83F probably benign Het
Zfp536 A T 7: 37,268,975 (GRCm39) L147Q probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging Het
Zswim2 G A 2: 83,746,338 (GRCm39) H367Y probably damaging Het
Other mutations in Rab12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Rab12 APN 17 66,804,430 (GRCm39) missense probably damaging 0.97
IGL01541:Rab12 APN 17 66,804,404 (GRCm39) missense probably damaging 1.00
IGL01702:Rab12 APN 17 66,826,384 (GRCm39) missense probably damaging 1.00
IGL02373:Rab12 APN 17 66,805,060 (GRCm39) missense probably damaging 1.00
IGL02656:Rab12 APN 17 66,813,049 (GRCm39) missense probably damaging 1.00
IGL02826:Rab12 APN 17 66,805,111 (GRCm39) splice site probably benign
R0165:Rab12 UTSW 17 66,807,312 (GRCm39) missense probably damaging 1.00
R0193:Rab12 UTSW 17 66,807,357 (GRCm39) missense probably damaging 1.00
R1716:Rab12 UTSW 17 66,807,315 (GRCm39) missense possibly damaging 0.89
R4863:Rab12 UTSW 17 66,805,103 (GRCm39) missense probably damaging 1.00
R5568:Rab12 UTSW 17 66,804,418 (GRCm39) missense probably damaging 1.00
R9645:Rab12 UTSW 17 66,826,421 (GRCm39) missense probably damaging 1.00
R9686:Rab12 UTSW 17 66,826,513 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CCACTATGGATGCTGAGTGC -3'
(R):5'- TGTCTCCTAATGGTGTAGATCAGC -3'

Sequencing Primer
(F):5'- GCTCTATTCCCTTTAACAGTGAGATG -3'
(R):5'- TAATGGTGTAGATCAGCCCGGC -3'
Posted On 2015-04-30