Incidental Mutation 'R7129:Rab4a'
ID 552525
Institutional Source Beutler Lab
Gene Symbol Rab4a
Ensembl Gene ENSMUSG00000019478
Gene Name RAB4A, member RAS oncogene family
Synonyms Rab4
MMRRC Submission 045214-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7129 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124532724-124562026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124554069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 40 (D40V)
Ref Sequence ENSEMBL: ENSMUSP00000113401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117702] [ENSMUST00000118535] [ENSMUST00000127664] [ENSMUST00000212846]
AlphaFold P56371
Predicted Effect probably benign
Transcript: ENSMUST00000117702
AA Change: D40V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113401
Gene: ENSMUSG00000019478
AA Change: D40V

DomainStartEndE-ValueType
RAB 14 177 1.17e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118535
AA Change: D40V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113886
Gene: ENSMUSG00000019478
AA Change: D40V

DomainStartEndE-ValueType
RAB 14 177 1.17e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212846
AA Change: D1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,209,199 (GRCm39) E443G probably damaging Het
2700049A03Rik A G 12: 71,263,004 (GRCm39) probably null Het
3110082I17Rik A G 5: 139,349,738 (GRCm39) Y104H probably damaging Het
Abcg4 T C 9: 44,190,681 (GRCm39) K282E probably benign Het
Adamts17 T C 7: 66,770,758 (GRCm39) S956P probably damaging Het
Adh1 T C 3: 137,986,235 (GRCm39) V74A probably damaging Het
Akt1 A T 12: 112,626,083 (GRCm39) M63K probably benign Het
Arfrp1 G A 2: 181,001,344 (GRCm39) R177* probably null Het
Arl11 A G 14: 61,548,346 (GRCm39) E52G possibly damaging Het
BC051019 T C 7: 109,319,825 (GRCm39) S10G Het
Bfsp2 T A 9: 103,357,118 (GRCm39) E103V probably damaging Het
Bms1 G T 6: 118,380,122 (GRCm39) C728* probably null Het
Cachd1 T G 4: 100,775,263 (GRCm39) N159K probably null Het
Cd38 A G 5: 44,067,651 (GRCm39) N294S probably benign Het
Cfap54 T C 10: 92,852,433 (GRCm39) N891S probably benign Het
Chsy3 A T 18: 59,543,370 (GRCm39) H836L probably damaging Het
Cldn16 A T 16: 26,301,388 (GRCm39) D232V probably damaging Het
Dhx33 A T 11: 70,884,689 (GRCm39) I425N probably damaging Het
Dock4 A G 12: 40,878,878 (GRCm39) N1506D probably damaging Het
Dok7 T C 5: 35,236,392 (GRCm39) S227P probably damaging Het
Elf2 T C 3: 51,168,432 (GRCm39) R201G probably damaging Het
Elp1 T C 4: 56,787,944 (GRCm39) H329R probably damaging Het
Etaa1 T C 11: 17,890,339 (GRCm39) R841G possibly damaging Het
Exoc4 T C 6: 33,948,934 (GRCm39) Y926H probably damaging Het
Fras1 A G 5: 96,929,143 (GRCm39) H3849R probably benign Het
Hapln3 C T 7: 78,771,572 (GRCm39) G106R probably damaging Het
Hmcn1 A C 1: 150,452,961 (GRCm39) probably null Het
Ifitm7 A T 16: 13,801,600 (GRCm39) I53N possibly damaging Het
Il6ra T C 3: 89,778,554 (GRCm39) N433D probably damaging Het
Iqch C T 9: 63,329,191 (GRCm39) V1048I probably benign Het
Kif20a A G 18: 34,765,588 (GRCm39) T862A probably benign Het
Mcrs1 G A 15: 99,146,609 (GRCm39) L141F probably damaging Het
Nkx3-2 A G 5: 41,919,017 (GRCm39) S324P probably damaging Het
Nmi A T 2: 51,845,936 (GRCm39) probably null Het
Nufip1 A G 14: 76,372,325 (GRCm39) K480E possibly damaging Het
Oit3 T A 10: 59,264,166 (GRCm39) I323F probably damaging Het
Or2ag17 T C 7: 106,389,690 (GRCm39) K173E probably benign Het
Or5b98 A T 19: 12,931,478 (GRCm39) H175L possibly damaging Het
Pcdha11 A G 18: 37,140,291 (GRCm39) E640G probably benign Het
Phip C T 9: 82,759,353 (GRCm39) V1366I probably damaging Het
Plin5 T C 17: 56,422,174 (GRCm39) M162V probably null Het
Podxl2 A G 6: 88,820,487 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Scn7a A G 2: 66,530,537 (GRCm39) F603L probably benign Het
Slfn5 A T 11: 82,851,976 (GRCm39) K701* probably null Het
Speer4f2 A G 5: 17,582,446 (GRCm39) D223G Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tas2r117 A T 6: 132,780,350 (GRCm39) T163S probably benign Het
Tecta T C 9: 42,259,287 (GRCm39) D1532G probably damaging Het
Tmem63a T C 1: 180,782,441 (GRCm39) I146T probably damaging Het
Ttn C A 2: 76,646,515 (GRCm39) G12844W probably damaging Het
Usp22 T C 11: 61,053,775 (GRCm39) I190V probably damaging Het
Usp24 T C 4: 106,219,412 (GRCm39) I536T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vmn1r9 A C 6: 57,048,611 (GRCm39) T229P probably damaging Het
Zbtb21 AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC 16: 97,752,887 (GRCm39) probably benign Het
Zbtb8a G C 4: 129,254,188 (GRCm39) A102G probably damaging Het
Zfp51 T C 17: 21,681,971 (GRCm39) W57R probably damaging Het
Other mutations in Rab4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Rab4a APN 8 124,554,153 (GRCm39) missense probably damaging 1.00
IGL02553:Rab4a APN 8 124,550,561 (GRCm39) missense probably benign 0.35
R0049:Rab4a UTSW 8 124,554,081 (GRCm39) missense probably damaging 0.99
R0049:Rab4a UTSW 8 124,554,081 (GRCm39) missense probably damaging 0.99
R0613:Rab4a UTSW 8 124,550,574 (GRCm39) missense possibly damaging 0.83
R1828:Rab4a UTSW 8 124,550,565 (GRCm39) missense probably damaging 1.00
R4572:Rab4a UTSW 8 124,560,799 (GRCm39) missense probably benign 0.29
R4694:Rab4a UTSW 8 124,555,769 (GRCm39) missense probably damaging 1.00
R5288:Rab4a UTSW 8 124,554,113 (GRCm39) missense probably benign 0.02
R6994:Rab4a UTSW 8 124,557,105 (GRCm39) missense probably damaging 0.99
R7849:Rab4a UTSW 8 124,532,876 (GRCm39) start codon destroyed probably null 0.04
R8073:Rab4a UTSW 8 124,554,135 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TTGAAGCAACCCGCCTTTTC -3'
(R):5'- GGAGCTGCAGATTTTGAGTTAC -3'

Sequencing Primer
(F):5'- GCCTTTTCACCTGCCAGG -3'
(R):5'- CAGATTTTGAGTTACGTGTGCATGC -3'
Posted On 2019-05-15