Incidental Mutation 'R6994:Rab4a'
ID 544055
Institutional Source Beutler Lab
Gene Symbol Rab4a
Ensembl Gene ENSMUSG00000019478
Gene Name RAB4A, member RAS oncogene family
Synonyms Rab4
MMRRC Submission 045100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6994 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124532724-124562026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124557105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 142 (S142P)
Ref Sequence ENSEMBL: ENSMUSP00000113886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117702] [ENSMUST00000118535] [ENSMUST00000127664] [ENSMUST00000212846]
AlphaFold P56371
Predicted Effect probably damaging
Transcript: ENSMUST00000117702
AA Change: S142P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113401
Gene: ENSMUSG00000019478
AA Change: S142P

DomainStartEndE-ValueType
RAB 14 177 1.17e-102 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118535
AA Change: S142P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113886
Gene: ENSMUSG00000019478
AA Change: S142P

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 unknown
Transcript: ENSMUST00000212846
AA Change: L90P
Meta Mutation Damage Score 0.2720 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (82/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T G 4: 144,349,849 (GRCm39) W369G probably damaging Het
Abhd16b C T 2: 181,135,461 (GRCm39) T121M possibly damaging Het
Adam5 A T 8: 25,276,262 (GRCm39) C468* probably null Het
Aim2 C T 1: 173,283,152 (GRCm39) A78V possibly damaging Het
Alg9 G A 9: 50,703,422 (GRCm39) W254* probably null Het
Ankrd55 G C 13: 112,504,834 (GRCm39) E499Q probably benign Het
Atp6v0a2 T C 5: 124,791,209 (GRCm39) F546S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bpi A T 2: 158,100,164 (GRCm39) probably benign Het
Bves A G 10: 45,215,514 (GRCm39) H63R probably benign Het
Ccdc183 T C 2: 25,507,057 (GRCm39) M45V probably benign Het
Cfhr4 T A 1: 139,664,668 (GRCm39) I464L possibly damaging Het
Cmklr1 T C 5: 113,752,983 (GRCm39) Y6C probably damaging Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Ctsm T A 13: 61,687,698 (GRCm39) E53D probably damaging Het
Cyp2a22 A G 7: 26,638,606 (GRCm39) probably null Het
Ddx10 A G 9: 53,115,411 (GRCm39) V641A probably damaging Het
Ddx6 T C 9: 44,540,020 (GRCm39) V316A probably damaging Het
Dhx34 T C 7: 15,937,799 (GRCm39) D767G probably benign Het
Dnaaf6rt T C 1: 31,261,990 (GRCm39) probably benign Het
Dtnbp1 T A 13: 45,155,405 (GRCm39) D15V probably damaging Het
Dtx3l C T 16: 35,751,742 (GRCm39) probably null Het
Entpd8 T C 2: 24,973,321 (GRCm39) I162T probably damaging Het
Fam186a G T 15: 99,840,347 (GRCm39) Q1966K probably benign Het
Fbxo27 A C 7: 28,392,785 (GRCm39) D22A probably damaging Het
Fermt3 A T 19: 6,977,095 (GRCm39) I577N probably damaging Het
Frmd8 A T 19: 5,923,209 (GRCm39) S81T probably damaging Het
Gm5108 T A 5: 68,102,012 (GRCm39) probably benign Het
Gm9195 T C 14: 72,718,271 (GRCm39) Y135C probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Kcnh8 A T 17: 53,284,723 (GRCm39) I898F probably benign Het
Kri1 C T 9: 21,199,083 (GRCm39) probably benign Het
Krt32 T A 11: 99,977,271 (GRCm39) I210F probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lpin3 C T 2: 160,746,803 (GRCm39) P766L probably damaging Het
Macroh2a1 T C 13: 56,237,643 (GRCm39) N206D probably benign Het
Marf1 T C 16: 13,946,721 (GRCm39) T1169A probably damaging Het
Morc1 G A 16: 48,385,984 (GRCm39) V536M probably benign Het
Morc1 A T 16: 48,438,909 (GRCm39) H768L probably benign Het
Mpped2 T A 2: 106,529,878 (GRCm39) H42Q possibly damaging Het
Nfatc1 G T 18: 80,696,779 (GRCm39) probably null Het
Nfkbid G A 7: 30,125,192 (GRCm39) S263N probably benign Het
Npas3 C A 12: 54,115,576 (GRCm39) Q802K probably damaging Het
Or52s1b T C 7: 102,822,119 (GRCm39) T242A probably damaging Het
Or5ac20 T G 16: 59,104,453 (GRCm39) M136L possibly damaging Het
Or5p67 T A 7: 107,922,101 (GRCm39) I261F possibly damaging Het
Pabpc4l C A 3: 46,401,345 (GRCm39) V100L possibly damaging Het
Pagr1a A G 7: 126,615,613 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,553 (GRCm39) N483K probably damaging Het
Pikfyve C A 1: 65,291,689 (GRCm39) P1303T probably damaging Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Pnkd T A 1: 74,332,335 (GRCm39) probably null Het
Pparg A T 6: 115,428,011 (GRCm39) Q166L probably benign Het
Psenen A G 7: 30,262,932 (GRCm39) probably null Het
Reg3a T C 6: 78,358,132 (GRCm39) V21A probably benign Het
Relt A C 7: 100,502,321 (GRCm39) probably benign Het
Rftn1 T A 17: 50,344,019 (GRCm39) T90S possibly damaging Het
Ripor3 T G 2: 167,839,186 (GRCm39) D105A probably damaging Het
Rnase10 T A 14: 51,247,138 (GRCm39) I135N probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rttn A G 18: 89,047,023 (GRCm39) E895G probably damaging Het
Serpina3a G A 12: 104,079,089 (GRCm39) probably null Het
Slco5a1 C T 1: 12,951,617 (GRCm39) C562Y probably damaging Het
Spen T C 4: 141,220,770 (GRCm39) T396A unknown Het
Tgfbr3 A G 5: 107,280,892 (GRCm39) S623P probably damaging Het
Tmem8b A G 4: 43,690,192 (GRCm39) I876V probably damaging Het
Tmod3 T C 9: 75,416,669 (GRCm39) K221R probably damaging Het
Tomm40 G T 7: 19,436,831 (GRCm39) D40E probably damaging Het
Trav6d-4 G T 14: 52,991,048 (GRCm39) G28V probably damaging Het
Trav8d-2 G T 14: 53,279,933 (GRCm39) A17S probably benign Het
Triml2 T C 8: 43,643,115 (GRCm39) C158R possibly damaging Het
Trip10 A G 17: 57,562,331 (GRCm39) E283G probably damaging Het
Tubb2b T C 13: 34,311,518 (GRCm39) Y425C probably damaging Het
Ubr1 T C 2: 120,794,074 (GRCm39) T37A probably benign Het
Unc13b A G 4: 43,171,403 (GRCm39) probably benign Het
Unc13b A G 4: 43,173,203 (GRCm39) probably benign Het
Vcan A T 13: 89,841,526 (GRCm39) D379E possibly damaging Het
Vmn1r44 T A 6: 89,871,140 (GRCm39) H295Q probably benign Het
Vmn2r16 A T 5: 109,487,969 (GRCm39) S281C probably damaging Het
Vmn2r84 C T 10: 130,226,876 (GRCm39) A321T possibly damaging Het
Vsig10l A T 7: 43,114,491 (GRCm39) H271L possibly damaging Het
Vwa8 A T 14: 79,145,596 (GRCm39) H91L possibly damaging Het
Zfp957 T A 14: 79,451,130 (GRCm39) E223V 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
R7129:Rab4a UTSW 8 124,554,069 (GRCm39) missense probably benign 0.03
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'- AACAGTGTGTGCATGGTGAG -3'
(R):5'- GGGCACAGACTAAGCTATGC -3'

Sequencing Primer
(F):5'- CATGGTGAGGATGACTGGAAAC -3'
(R):5'- CTGAAATAGCCTAAGTTGACAGTAG -3'
Posted On 2019-05-13