Incidental Mutation 'R6171:Rab7b'
ID 501903
Institutional Source Beutler Lab
Gene Symbol Rab7b
Ensembl Gene ENSMUSG00000052688
Gene Name RAB7B, member RAS oncogene family
Synonyms Rab7b, 5430435G22Rik
MMRRC Submission 044314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6171 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131616433-131643177 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 131626372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064664] [ENSMUST00000064679] [ENSMUST00000129905] [ENSMUST00000136247]
AlphaFold Q8VEA8
Predicted Effect probably null
Transcript: ENSMUST00000064664
SMART Domains Protein: ENSMUSP00000066452
Gene: ENSMUSG00000052688

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 null
Transcript: ENSMUST00000064679
SMART Domains Protein: ENSMUSP00000065456
Gene: ENSMUSG00000052688

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprs A G 4: 126,211,110 (GRCm39) V269A probably damaging Het
Atp11a T A 8: 12,882,663 (GRCm39) V517D probably damaging Het
Atr C T 9: 95,763,324 (GRCm39) Q1073* probably null Het
C87436 A C 6: 86,422,449 (GRCm39) T8P probably benign Het
Clasrp T C 7: 19,318,747 (GRCm39) probably benign Het
Creb3l1 G T 2: 91,821,614 (GRCm39) Q254K probably damaging Het
Dapl1 C A 2: 59,326,946 (GRCm39) T64K probably benign Het
Dnah2 A T 11: 69,313,868 (GRCm39) L4168Q probably damaging Het
Dnttip2 T A 3: 122,072,511 (GRCm39) I597N probably damaging Het
Dyrk1b A T 7: 27,885,975 (GRCm39) probably null Het
Elk3 G T 10: 93,085,906 (GRCm39) P132Q probably damaging Het
Galt C T 4: 41,757,541 (GRCm39) P238S probably damaging Het
Gm10322 T C 10: 59,452,084 (GRCm39) V67A possibly damaging Het
Ice1 T C 13: 70,754,850 (GRCm39) Y412C probably benign Het
Kcna1 A T 6: 126,619,286 (GRCm39) Y345N probably damaging Het
Kif1b T C 4: 149,342,505 (GRCm39) Y419C probably damaging Het
Klf15 G T 6: 90,443,601 (GRCm39) A59S possibly damaging Het
Mettl17 T A 14: 52,126,236 (GRCm39) Y162N probably damaging Het
Myh10 G A 11: 68,682,716 (GRCm39) R1050Q probably damaging Het
Nek4 T C 14: 30,692,304 (GRCm39) V376A probably benign Het
Nemp1 T A 10: 127,525,319 (GRCm39) probably null Het
Nlrp9a T C 7: 26,258,188 (GRCm39) I602T possibly damaging Het
Nphp4 T C 4: 152,628,906 (GRCm39) V764A probably damaging Het
Or12e1 T A 2: 87,022,709 (GRCm39) V226E possibly damaging Het
Or8c17 C T 9: 38,179,898 (GRCm39) Q22* probably null Het
Osbp2 A T 11: 3,667,221 (GRCm39) probably null Het
Pax2 A G 19: 44,779,179 (GRCm39) Y185C probably damaging Het
Pdyn A T 2: 129,530,268 (GRCm39) S134T possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Ppp1r13l A G 7: 19,111,436 (GRCm39) M754V probably benign Het
Prr23a3 T A 9: 98,747,731 (GRCm39) N228K probably benign Het
Psmd12 T C 11: 107,382,733 (GRCm39) F213L probably damaging Het
Qser1 A T 2: 104,619,628 (GRCm39) S395T probably damaging Het
Rev3l T A 10: 39,738,709 (GRCm39) L2821* probably null Het
Rplp0 A G 5: 115,699,219 (GRCm39) N127S probably benign Het
Serpina9 G T 12: 103,974,678 (GRCm39) Y158* probably null Het
Sis G A 3: 72,868,360 (GRCm39) T110M possibly damaging Het
Slc43a2 A G 11: 75,453,876 (GRCm39) Y263C probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stard13 A T 5: 151,016,227 (GRCm39) V88E probably damaging Het
Trim29 G A 9: 43,230,674 (GRCm39) E286K probably damaging Het
Vmn2r24 T C 6: 123,764,205 (GRCm39) S361P probably damaging Het
Wnk2 T C 13: 49,214,308 (GRCm39) T18A probably damaging Het
Xylb C T 9: 119,210,657 (GRCm39) T380M probably damaging Het
Zbtb5 T C 4: 44,994,119 (GRCm39) T422A probably benign Het
Zhx2 A G 15: 57,686,602 (GRCm39) E657G probably damaging Het
Other mutations in Rab7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Rab7b APN 1 131,626,329 (GRCm39) missense possibly damaging 0.93
IGL02884:Rab7b APN 1 131,626,280 (GRCm39) missense probably damaging 1.00
Seven_up UTSW 1 131,626,164 (GRCm39) missense probably damaging 1.00
uncola UTSW 1 131,626,372 (GRCm39) splice site probably null
R0131:Rab7b UTSW 1 131,626,293 (GRCm39) missense probably damaging 1.00
R0366:Rab7b UTSW 1 131,626,242 (GRCm39) missense probably damaging 1.00
R1794:Rab7b UTSW 1 131,624,806 (GRCm39) critical splice donor site probably null
R2140:Rab7b UTSW 1 131,626,157 (GRCm39) missense probably damaging 1.00
R4589:Rab7b UTSW 1 131,633,385 (GRCm39) missense probably benign 0.32
R5420:Rab7b UTSW 1 131,626,164 (GRCm39) missense probably damaging 1.00
R6030:Rab7b UTSW 1 131,626,299 (GRCm39) missense probably damaging 1.00
R6030:Rab7b UTSW 1 131,626,299 (GRCm39) missense probably damaging 1.00
R7542:Rab7b UTSW 1 131,639,379 (GRCm39) missense probably benign
R9343:Rab7b UTSW 1 131,639,540 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACAAAGGTTCCGATGGCTG -3'
(R):5'- AGACGGCCTTCCACTGTAATTTC -3'

Sequencing Primer
(F):5'- ACAAAGGTTCCGATGGCTGTATCC -3'
(R):5'- CTCCAAAGTATATAACTGTCACTGC -3'
Posted On 2017-12-04