Incidental Mutation 'R5202:Rab30'
ID 400893
Institutional Source Beutler Lab
Gene Symbol Rab30
Ensembl Gene ENSMUSG00000030643
Gene Name RAB30, member RAS oncogene family
Synonyms 5033421K01Rik
MMRRC Submission 042777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R5202 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 92390845-92493743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92485121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 196 (Y196H)
Ref Sequence ENSEMBL: ENSMUSP00000102798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032879] [ENSMUST00000107179] [ENSMUST00000107180]
AlphaFold Q923S9
Predicted Effect probably benign
Transcript: ENSMUST00000032879
AA Change: Y196H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032879
Gene: ENSMUSG00000030643
AA Change: Y196H

DomainStartEndE-ValueType
RAB 10 173 4.73e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107179
AA Change: Y168H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102797
Gene: ENSMUSG00000030643
AA Change: Y168H

DomainStartEndE-ValueType
RAB 10 145 3.31e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107180
AA Change: Y196H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102798
Gene: ENSMUSG00000030643
AA Change: Y196H

DomainStartEndE-ValueType
RAB 10 173 4.73e-89 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI

 All alleles(19) : Targeted, knock-out(1) Gene trapped(18)
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,562,308 (GRCm39) M312L probably benign Het
Adam7 C A 14: 68,745,305 (GRCm39) D640Y possibly damaging Het
Alcam T C 16: 52,094,599 (GRCm39) Y384C probably damaging Het
Apob A G 12: 8,063,737 (GRCm39) E289G probably damaging Het
Arhgap15 A T 2: 43,953,869 (GRCm39) R198S probably benign Het
Bbs2 G T 8: 94,819,042 (GRCm39) S109* probably null Het
Bfsp1 T C 2: 143,668,891 (GRCm39) S569G probably benign Het
Chst9 A T 18: 15,586,296 (GRCm39) I89N probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Csde1 T G 3: 102,947,250 (GRCm39) D67E probably damaging Het
Csf2rb T G 15: 78,233,257 (GRCm39) S855A possibly damaging Het
Cyp4a10 T A 4: 115,389,812 (GRCm39) D472E probably damaging Het
Cyp4f18 C A 8: 72,762,940 (GRCm39) R49L probably benign Het
Daam1 G T 12: 71,991,048 (GRCm39) V221L unknown Het
Dbr1 T G 9: 99,465,944 (GRCm39) D507E probably benign Het
Dhrs7c A G 11: 67,706,627 (GRCm39) M188V probably benign Het
Dicer1 A T 12: 104,660,990 (GRCm39) L1688* probably null Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
E2f3 G A 13: 30,102,619 (GRCm39) T91I probably damaging Het
Etaa1 A T 11: 17,897,853 (GRCm39) V157E probably damaging Het
Foxp2 A T 6: 15,394,770 (GRCm39) T157S probably benign Het
Frem2 A G 3: 53,458,767 (GRCm39) V2034A probably benign Het
Fzd10 T C 5: 128,679,180 (GRCm39) V300A possibly damaging Het
Gbf1 A T 19: 46,256,893 (GRCm39) M778L probably benign Het
Gm17472 T A 6: 42,958,068 (GRCm39) N112K probably benign Het
Gria4 T C 9: 4,424,330 (GRCm39) K845R probably benign Het
Hspa4l T A 3: 40,736,001 (GRCm39) S541T probably benign Het
Igkv4-68 G A 6: 69,281,926 (GRCm39) R82C probably damaging Het
Itgb1 A T 8: 129,446,491 (GRCm39) I383F probably damaging Het
Kcnk12 T A 17: 88,054,033 (GRCm39) K210* probably null Het
Limch1 C G 5: 67,150,516 (GRCm39) D163E probably damaging Het
Mbd4 A T 6: 115,826,363 (GRCm39) D188E probably damaging Het
Myh9 C T 15: 77,665,310 (GRCm39) probably null Het
Nbeal2 T C 9: 110,473,734 (GRCm39) E28G probably damaging Het
Nfatc4 A G 14: 56,064,116 (GRCm39) E201G probably damaging Het
Nrap G A 19: 56,323,583 (GRCm39) H1330Y probably damaging Het
Nudt14 A G 12: 112,898,648 (GRCm39) S151P probably damaging Het
Or14c45 C A 7: 86,176,324 (GRCm39) R120S probably damaging Het
Or2ag2 T A 7: 106,485,803 (GRCm39) T74S possibly damaging Het
Or7e165 T A 9: 19,694,514 (GRCm39) F28L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Paqr9 A G 9: 95,442,163 (GRCm39) D51G probably damaging Het
Pcgf5 T A 19: 36,414,583 (GRCm39) F80I probably damaging Het
Pkhd1 T G 1: 20,617,565 (GRCm39) S1007R probably benign Het
Setd2 A T 9: 110,380,298 (GRCm39) D1371V probably damaging Het
Slc48a1 A T 15: 97,688,581 (GRCm39) I140F possibly damaging Het
Sorl1 A G 9: 41,944,879 (GRCm39) V882A probably benign Het
Sptbn2 G T 19: 4,774,212 (GRCm39) G88W probably damaging Het
Tdrd12 A G 7: 35,189,455 (GRCm39) V427A possibly damaging Het
Tekt2 T C 4: 126,218,463 (GRCm39) D69G probably benign Het
Tie1 C T 4: 118,337,707 (GRCm39) V463I probably benign Het
Tmem150c G T 5: 100,227,813 (GRCm39) H217N probably damaging Het
Tnks2 G A 19: 36,866,252 (GRCm39) G1080R probably damaging Het
Ttll4 G A 1: 74,727,011 (GRCm39) probably null Het
Other mutations in Rab30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Rab30 APN 7 92,484,930 (GRCm39) missense probably damaging 0.99
F5426:Rab30 UTSW 7 92,478,876 (GRCm39) missense possibly damaging 0.95
R1706:Rab30 UTSW 7 92,478,875 (GRCm39) missense possibly damaging 0.91
R2359:Rab30 UTSW 7 92,485,005 (GRCm39) missense possibly damaging 0.95
R4967:Rab30 UTSW 7 92,478,771 (GRCm39) missense probably damaging 1.00
R9677:Rab30 UTSW 7 92,469,245 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACCCTCGTTACAGGCAAC -3'
(R):5'- TGGCCTGCATGCTTGGTAAG -3'

Sequencing Primer
(F):5'- CTCGTTACAGGCAACAAGATTG -3'
(R):5'- ATTCCCTAGCAACGTACG -3'
Posted On 2016-07-06