Incidental Mutation 'R6886:Rab4b'
ID 536951
Institutional Source Beutler Lab
Gene Symbol Rab4b
Ensembl Gene ENSMUSG00000053291
Gene Name RAB4B, member RAS oncogene family
Synonyms 1500031G17Rik
MMRRC Submission 044980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6886 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 26867858-26878308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 26872381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 145 (L145R)
Ref Sequence ENSEMBL: ENSMUSP00000090727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093040] [ENSMUST00000153511] [ENSMUST00000154724]
AlphaFold Q91ZR1
Predicted Effect probably damaging
Transcript: ENSMUST00000093040
AA Change: L145R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090727
Gene: ENSMUSG00000053291
AA Change: L145R

DomainStartEndE-ValueType
RAB 9 172 2.47e-101 SMART
Predicted Effect silent
Transcript: ENSMUST00000153511
SMART Domains Protein: ENSMUSP00000138477
Gene: ENSMUSG00000053291

DomainStartEndE-ValueType
Pfam:Arf 3 97 1.8e-11 PFAM
Pfam:Miro 10 95 9.5e-15 PFAM
Pfam:Ras 10 95 7.8e-35 PFAM
Pfam:Gtr1_RagA 10 98 4.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154724
SMART Domains Protein: ENSMUSP00000122859
Gene: ENSMUSG00000095538

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SH3 46 112 8.92e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB proteins, such as RAB4B, are members of the RAS superfamily of small GTPases that are involved in vesicular trafficking (He et al., 2002 [PubMed 12450215]).[supplied by OMIM, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,518,706 (GRCm39) M44K probably benign Het
Bad T C 19: 6,928,702 (GRCm39) probably benign Het
Bbs12 A G 3: 37,373,390 (GRCm39) D61G probably damaging Het
Bcr C T 10: 74,989,769 (GRCm39) R722C probably damaging Het
Carf C A 1: 60,175,413 (GRCm39) probably null Het
Ccdc181 A G 1: 164,107,665 (GRCm39) E116G probably damaging Het
Celsr1 A G 15: 85,915,855 (GRCm39) V706A probably benign Het
Col9a1 T A 1: 24,224,426 (GRCm39) S203T unknown Het
Ctsl T C 13: 64,512,961 (GRCm39) probably null Het
Exosc7 A T 9: 122,965,023 (GRCm39) E277D probably benign Het
Fam20b A T 1: 156,518,081 (GRCm39) W238R probably damaging Het
Fanci A T 7: 79,070,090 (GRCm39) H430L possibly damaging Het
Fstl4 A G 11: 53,077,277 (GRCm39) D678G probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gm11569 T A 11: 99,689,247 (GRCm39) probably benign Het
Igfn1 G A 1: 135,901,198 (GRCm39) R306W probably damaging Het
Il6 C T 5: 30,223,201 (GRCm39) probably benign Het
Khdc1c T C 1: 21,439,749 (GRCm39) L100P possibly damaging Het
Kif18a G A 2: 109,127,008 (GRCm39) R314H probably damaging Het
Kif26b A C 1: 178,701,703 (GRCm39) K694T probably damaging Het
Kndc1 A G 7: 139,493,485 (GRCm39) T484A probably benign Het
Lonrf1 T C 8: 36,696,191 (GRCm39) probably null Het
Man1a2 C T 3: 100,563,387 (GRCm39) G169D probably benign Het
Med6 G T 12: 81,638,159 (GRCm39) D17E probably damaging Het
Neb T C 2: 52,110,236 (GRCm39) K204R probably damaging Het
Nhlrc1 T A 13: 47,167,252 (GRCm39) N335I possibly damaging Het
Nlrp12 T C 7: 3,289,313 (GRCm39) M400V probably benign Het
Or7e173 G T 9: 19,938,428 (GRCm39) H269N probably benign Het
Or8k22 A T 2: 86,163,408 (GRCm39) C97* probably null Het
Pkhd1 C T 1: 20,417,504 (GRCm39) S2549N probably benign Het
Pramel26 A G 4: 143,539,332 (GRCm39) F54L probably benign Het
Rad50 T C 11: 53,577,011 (GRCm39) I526V probably benign Het
Rel T C 11: 23,694,304 (GRCm39) H309R probably benign Het
Rnf2 G T 1: 151,349,017 (GRCm39) N34K possibly damaging Het
Serpina3m G T 12: 104,355,386 (GRCm39) V18F possibly damaging Het
Serpinb9c T C 13: 33,334,310 (GRCm39) K244R probably benign Het
Setbp1 T A 18: 78,900,715 (GRCm39) Y984F probably damaging Het
Slc12a5 T A 2: 164,824,825 (GRCm39) M410K probably benign Het
Smarca4 C T 9: 21,570,127 (GRCm39) A710V probably damaging Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Ssrp1 T A 2: 84,870,280 (GRCm39) D101E probably benign Het
Tax1bp1 A T 6: 52,710,208 (GRCm39) E162D probably benign Het
Tenm4 T A 7: 96,446,599 (GRCm39) M823K possibly damaging Het
Tesk1 A G 4: 43,443,592 (GRCm39) D53G possibly damaging Het
Tnrc6a T A 7: 122,786,668 (GRCm39) S1577T probably benign Het
Tpr A G 1: 150,299,716 (GRCm39) I1270V probably benign Het
Trp53bp2 T C 1: 182,256,608 (GRCm39) probably null Het
Ube4a A T 9: 44,860,141 (GRCm39) I307N probably damaging Het
Unc13b A G 4: 43,170,156 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,166,927 (GRCm39) K735E probably damaging Het
Vmn2r54 A G 7: 12,366,080 (GRCm39) F285L probably benign Het
Vmn2r81 T G 10: 79,103,988 (GRCm39) S204A possibly damaging Het
Washc1 A G 17: 66,426,061 (GRCm39) D453G probably damaging Het
Zfp329 T A 7: 12,544,025 (GRCm39) I500L probably benign Het
Zfp516 A G 18: 82,975,125 (GRCm39) D441G probably benign Het
Zfp644 T C 5: 106,785,777 (GRCm39) T257A possibly damaging Het
Other mutations in Rab4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Rab4b APN 7 26,872,151 (GRCm39) missense probably damaging 0.97
IGL02238:Rab4b APN 7 26,872,154 (GRCm39) missense probably benign 0.21
PIT4802001:Rab4b UTSW 7 26,875,267 (GRCm39) missense probably benign 0.01
R0103:Rab4b UTSW 7 26,873,927 (GRCm39) missense probably benign 0.07
R0103:Rab4b UTSW 7 26,873,927 (GRCm39) missense probably benign 0.07
R4152:Rab4b UTSW 7 26,875,551 (GRCm39) utr 3 prime probably benign
R4735:Rab4b UTSW 7 26,872,191 (GRCm39) splice site probably benign
R5399:Rab4b UTSW 7 26,875,587 (GRCm39) missense probably benign 0.00
R5930:Rab4b UTSW 7 26,873,927 (GRCm39) missense probably benign 0.07
R6405:Rab4b UTSW 7 26,872,379 (GRCm39) missense probably damaging 0.99
R7635:Rab4b UTSW 7 26,875,642 (GRCm39) missense probably damaging 1.00
R8805:Rab4b UTSW 7 26,874,148 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AAAGGCCAGACATGTTCCTC -3'
(R):5'- AGAAGTCTCAGCTAAGCCAGGG -3'

Sequencing Primer
(F):5'- AGACATGTTCCTCGGAGCC -3'
(R):5'- AGAAGGGCCTCCTGACTCAG -3'
Posted On 2018-10-18