Incidental Mutation 'IGL00679:Rab4a'
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ID13725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab4a
Ensembl Gene ENSMUSG00000019478
Gene NameRAB4A, member RAS oncogene family
SynonymsRab4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00679
Quality Score
Status
Chromosome8
Chromosomal Location123805985-123835287 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123827414 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 29 (D29G)
Ref Sequence ENSEMBL: ENSMUSP00000148777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117702] [ENSMUST00000118535] [ENSMUST00000127664] [ENSMUST00000212846]
Predicted Effect probably damaging
Transcript: ENSMUST00000117702
AA Change: D68G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113401
Gene: ENSMUSG00000019478
AA Change: D68G

DomainStartEndE-ValueType
RAB 14 177 1.17e-102 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118535
AA Change: D68G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113886
Gene: ENSMUSG00000019478
AA Change: D68G

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: D29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik A G 3: 108,537,635 E6G possibly damaging Het
Arhgap5 C A 12: 52,517,281 A345D probably damaging Het
Ccdc73 C T 2: 104,994,591 P990S probably damaging Het
Cep112 A G 11: 108,591,053 K692R probably damaging Het
Cep57l1 A T 10: 41,719,800 C319* probably null Het
Cntnap5c A G 17: 58,055,678 D342G probably damaging Het
Exoc1 A T 5: 76,567,023 H742L possibly damaging Het
Faah A T 4: 116,008,283 L69Q possibly damaging Het
Fbxw21 G A 9: 109,161,964 P9L probably damaging Het
Irak4 T A 15: 94,556,628 M218K probably benign Het
Kdm2a A T 19: 4,326,841 C235S probably damaging Het
Slc22a8 A G 19: 8,604,855 I133M possibly damaging Het
Wipi2 A G 5: 142,659,149 D170G probably damaging Het
Other mutations in Rab4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02553:Rab4a APN 8 123823822 missense probably benign 0.35
R0049:Rab4a UTSW 8 123827342 missense probably damaging 0.99
R0049:Rab4a UTSW 8 123827342 missense probably damaging 0.99
R0613:Rab4a UTSW 8 123823835 missense possibly damaging 0.83
R1828:Rab4a UTSW 8 123823826 missense probably damaging 1.00
R4572:Rab4a UTSW 8 123834060 missense probably benign 0.29
R4694:Rab4a UTSW 8 123829030 missense probably damaging 1.00
R5288:Rab4a UTSW 8 123827374 missense probably benign 0.02
R6994:Rab4a UTSW 8 123830366 missense probably damaging 0.99
R7129:Rab4a UTSW 8 123827330 missense probably benign 0.03
R7849:Rab4a UTSW 8 123806137 start codon destroyed probably null 0.04
R7932:Rab4a UTSW 8 123806137 start codon destroyed probably null 0.04
R8073:Rab4a UTSW 8 123827396 missense possibly damaging 0.56
Posted On2012-12-06