Incidental Mutation 'IGL02553:Rab4a'
ID 298578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab4a
Ensembl Gene ENSMUSG00000019478
Gene Name RAB4A, member RAS oncogene family
Synonyms Rab4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02553
Quality Score
Status
Chromosome 8
Chromosomal Location 124532724-124562026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124550561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 14 (F14L)
Ref Sequence ENSEMBL: ENSMUSP00000113886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117702] [ENSMUST00000118535] [ENSMUST00000127664] [ENSMUST00000212846]
AlphaFold P56371
Predicted Effect probably benign
Transcript: ENSMUST00000117702
AA Change: F14L

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113401
Gene: ENSMUSG00000019478
AA Change: F14L

DomainStartEndE-ValueType
RAB 14 177 1.17e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118535
AA Change: F14L

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113886
Gene: ENSMUSG00000019478
AA Change: F14L

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 benign
Transcript: ENSMUST00000212846
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,242,750 (GRCm39) S1326P probably damaging Het
Alpk1 A T 3: 127,466,970 (GRCm39) L1103Q probably damaging Het
Arhgap11a A C 2: 113,667,906 (GRCm39) probably benign Het
Arl6ip6 A G 2: 53,082,226 (GRCm39) Y31C possibly damaging Het
Arpin G T 7: 79,577,395 (GRCm39) D217E possibly damaging Het
Atp13a4 C T 16: 29,241,521 (GRCm39) V735I probably benign Het
Ccdc146 A T 5: 21,502,631 (GRCm39) F753L probably benign Het
Cdh3 T A 8: 107,270,880 (GRCm39) L511* probably null Het
Chrna1 A T 2: 73,397,206 (GRCm39) I361N possibly damaging Het
Clk2 G A 3: 89,083,020 (GRCm39) R432H probably damaging Het
Col9a1 T C 1: 24,261,018 (GRCm39) probably benign Het
Cstf1 G T 2: 172,219,774 (GRCm39) R295L probably benign Het
Dsg2 A G 18: 20,725,467 (GRCm39) D526G probably damaging Het
Dsg4 T A 18: 20,595,577 (GRCm39) H593Q probably benign Het
Dysf T C 6: 84,107,109 (GRCm39) Y1171H possibly damaging Het
Erbb4 A G 1: 68,345,023 (GRCm39) L566P probably benign Het
Fam185a T A 5: 21,660,829 (GRCm39) D281E probably damaging Het
Fam185a T A 5: 21,634,839 (GRCm39) probably benign Het
Fam91a1 T A 15: 58,304,831 (GRCm39) probably null Het
Fat2 A G 11: 55,202,109 (GRCm39) W322R probably damaging Het
Fbxw8 T A 5: 118,204,125 (GRCm39) probably benign Het
Ganc A G 2: 120,288,615 (GRCm39) T874A probably benign Het
Gm3543 T C 14: 41,802,048 (GRCm39) I145M probably benign Het
Gtf2i G A 5: 134,274,015 (GRCm39) T712I probably damaging Het
Hk1 A G 10: 62,131,552 (GRCm39) S268P possibly damaging Het
Hmcn1 A G 1: 150,868,774 (GRCm39) V10A probably benign Het
Hsd17b4 C T 18: 50,295,164 (GRCm39) probably benign Het
Ighv1-75 A T 12: 115,797,725 (GRCm39) W66R probably damaging Het
Kif21b G T 1: 136,081,859 (GRCm39) D636Y probably damaging Het
Kif5b A T 18: 6,220,914 (GRCm39) I398N probably benign Het
Metap2 T C 10: 93,701,311 (GRCm39) M165V probably damaging Het
Mterf2 A C 10: 84,956,331 (GRCm39) L98V probably damaging Het
Muc16 A G 9: 18,409,849 (GRCm39) probably null Het
Myo3b A G 2: 69,925,568 (GRCm39) M12V probably benign Het
Nat10 C A 2: 103,583,013 (GRCm39) R136I probably damaging Het
Nsd2 T G 5: 34,003,542 (GRCm39) S231A probably damaging Het
Or4a71 T C 2: 89,358,275 (GRCm39) T160A probably benign Het
Or4k37 A T 2: 111,159,333 (GRCm39) M190L probably benign Het
Pcdhb14 T A 18: 37,581,071 (GRCm39) L59* probably null Het
Pias4 A G 10: 80,999,621 (GRCm39) L144P probably damaging Het
Plxna2 T A 1: 194,433,746 (GRCm39) N598K probably benign Het
Polq A G 16: 36,862,130 (GRCm39) Y550C probably damaging Het
Pot1b T A 17: 56,002,024 (GRCm39) probably benign Het
Proz T C 8: 13,115,260 (GRCm39) V92A probably benign Het
Riok3 T A 18: 12,276,073 (GRCm39) C256* probably null Het
Slc6a1 T A 6: 114,279,451 (GRCm39) probably benign Het
Socs5 C T 17: 87,442,419 (GRCm39) T453M probably damaging Het
Spata3 T C 1: 85,952,211 (GRCm39) L135P probably damaging Het
Spata46 A G 1: 170,139,534 (GRCm39) K178E probably damaging Het
Spr T C 6: 85,114,430 (GRCm39) N100D probably damaging Het
Srrm4 C T 5: 116,582,624 (GRCm39) probably benign Het
Stard3 T C 11: 98,267,389 (GRCm39) F169S possibly damaging Het
Tbx1 T A 16: 18,402,847 (GRCm39) D222V probably damaging Het
Trbv23 C T 6: 41,193,279 (GRCm39) Q56* probably null Het
Tsc22d1 A G 14: 76,654,838 (GRCm39) N357S possibly damaging Het
Ugt1a6a C T 1: 88,066,811 (GRCm39) P206S probably benign Het
Utp20 A G 10: 88,600,657 (GRCm39) V19A probably damaging Het
Vps13b A G 15: 35,646,447 (GRCm39) N1517S probably benign Het
Washc2 T C 6: 116,218,571 (GRCm39) I672T probably damaging Het
Other mutations in Rab4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Rab4a APN 8 124,554,153 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2015-04-16