Incidental Mutation 'IGL02884:Rab7b'
ID362924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab7b
Ensembl Gene ENSMUSG00000052688
Gene NameRAB7B, member RAS oncogene family
SynonymsRab7b, 5430435G22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL02884
Quality Score
Status
Chromosome1
Chromosomal Location131688695-131715439 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 131698542 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 103 (R103G)
Ref Sequence ENSEMBL: ENSMUSP00000065456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064664] [ENSMUST00000064679] [ENSMUST00000129905] [ENSMUST00000136247]
Predicted Effect probably damaging
Transcript: ENSMUST00000064664
AA Change: R103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066452
Gene: ENSMUSG00000052688
AA Change: R103G

DomainStartEndE-ValueType
Pfam:Arf 2 151 1e-16 PFAM
Pfam:GTP_EFTU 7 153 2.2e-6 PFAM
Pfam:Miro 10 127 1.2e-22 PFAM
Pfam:Gtr1_RagA 10 148 2.9e-8 PFAM
Pfam:Ras 10 148 3.8e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000064679
AA Change: R103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065456
Gene: ENSMUSG00000052688
AA Change: R103G

DomainStartEndE-ValueType
RAB 9 174 1.22e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129905
SMART Domains Protein: ENSMUSP00000116515
Gene: ENSMUSG00000052688

DomainStartEndE-ValueType
Pfam:Ras 10 76 2.7e-14 PFAM
Pfam:Miro 10 79 3.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130848
Predicted Effect probably benign
Transcript: ENSMUST00000136247
SMART Domains Protein: ENSMUSP00000123359
Gene: ENSMUSG00000052688

DomainStartEndE-ValueType
Pfam:Ras 10 64 1.6e-13 PFAM
Pfam:Miro 10 93 1.1e-7 PFAM
Pfam:Ras 54 101 2.6e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,287,476 I121V probably benign Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Akap11 A T 14: 78,498,962 M1797K probably benign Het
Akap6 T A 12: 52,886,622 I299N probably benign Het
Akr1c12 A T 13: 4,272,212 M277K possibly damaging Het
Ankrd17 A T 5: 90,264,757 M1236K probably damaging Het
Arhgef11 A G 3: 87,728,006 D874G probably damaging Het
Atg4b T C 1: 93,787,715 probably benign Het
Bcl9 G A 3: 97,210,052 P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 K98* probably null Het
Ccdc129 T C 6: 55,874,354 probably null Het
Cenpl A G 1: 161,086,049 Q343R probably benign Het
Cep104 T C 4: 153,989,862 C524R probably damaging Het
Clec3b C T 9: 123,156,762 T75I probably benign Het
Col13a1 A T 10: 61,905,285 probably benign Het
Crot C T 5: 8,978,197 probably null Het
Ddo G A 10: 40,637,364 V101I probably benign Het
Disp2 T C 2: 118,787,551 probably benign Het
Dnmt3b A C 2: 153,674,377 Y474S probably damaging Het
Dpp6 T A 5: 27,634,556 N298K possibly damaging Het
Fbf1 C T 11: 116,146,513 E940K probably damaging Het
Fgd6 A G 10: 94,045,639 probably benign Het
H2-M10.2 T C 17: 36,284,676 R241G probably damaging Het
Haghl A T 17: 25,783,098 F207Y possibly damaging Het
Helt G A 8: 46,292,583 R88C probably damaging Het
Igf2bp2 T C 16: 22,162,885 K27E probably benign Het
Il1b T C 2: 129,365,102 H246R probably benign Het
Kcnu1 C T 8: 25,921,528 S167L probably damaging Het
Kif16b A T 2: 142,702,614 probably benign Het
Myh7 A T 14: 54,992,819 S19T probably benign Het
Ncaph2 T C 15: 89,364,244 probably null Het
Nlrp4c T C 7: 6,098,952 L879P probably damaging Het
Nqo2 T A 13: 33,972,361 N19K probably damaging Het
Olfr456 C T 6: 42,486,606 V196M probably damaging Het
Osbpl1a C A 18: 12,819,578 G93* probably null Het
Pdxdc1 A G 16: 13,843,795 F459L possibly damaging Het
Phc2 A T 4: 128,708,016 H88L probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A T 17: 42,502,449 T414S possibly damaging Het
Retnla A G 16: 48,842,580 Y3C probably benign Het
Samd7 G A 3: 30,756,173 R113H probably damaging Het
Shisa9 G A 16: 11,997,043 probably benign Het
Soat1 A T 1: 156,441,356 I208N possibly damaging Het
Stab1 C A 14: 31,150,143 probably null Het
Tti2 C T 8: 31,151,477 L210F possibly damaging Het
Ube2v2 A G 16: 15,556,485 V77A probably benign Het
Ubr5 T C 15: 37,998,376 E1617G probably damaging Het
Vmn2r16 T A 5: 109,360,891 I495K possibly damaging Het
Vwce G T 19: 10,646,579 R278L possibly damaging Het
Wdr26 C T 1: 181,182,784 A551T probably damaging Het
Wee1 A G 7: 110,126,062 I304V probably benign Het
Xrcc5 C T 1: 72,346,237 H496Y possibly damaging Het
Zfp142 G T 1: 74,571,983 S884R probably damaging Het
Other mutations in Rab7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Rab7b APN 1 131698591 missense possibly damaging 0.93
R0131:Rab7b UTSW 1 131698555 missense probably damaging 1.00
R0366:Rab7b UTSW 1 131698504 missense probably damaging 1.00
R1794:Rab7b UTSW 1 131697068 critical splice donor site probably null
R2140:Rab7b UTSW 1 131698419 missense probably damaging 1.00
R4589:Rab7b UTSW 1 131705647 missense probably benign 0.32
R5420:Rab7b UTSW 1 131698426 missense probably damaging 1.00
R6030:Rab7b UTSW 1 131698561 missense probably damaging 1.00
R6030:Rab7b UTSW 1 131698561 missense probably damaging 1.00
R6171:Rab7b UTSW 1 131698634 splice site probably null
Posted On2015-12-18