Incidental Mutation 'IGL02048:Zfyve27'
ID185002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve27
Ensembl Gene ENSMUSG00000018820
Gene Namezinc finger, FYVE domain containing 27
Synonymsprotrudin, 2210011N02Rik, 9530077C24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02048
Quality Score
Status
Chromosome19
Chromosomal Location42163951-42194590 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42185857 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 314 (D314G)
Ref Sequence ENSEMBL: ENSMUSP00000097042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099443] [ENSMUST00000168130] [ENSMUST00000169536]
Predicted Effect probably damaging
Transcript: ENSMUST00000099443
AA Change: D314G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: D314G

DomainStartEndE-ValueType
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
transmembrane domain 190 212 N/A INTRINSIC
low complexity region 280 300 N/A INTRINSIC
FYVE 335 408 2.52e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165783
Predicted Effect probably benign
Transcript: ENSMUST00000168130
SMART Domains Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820

DomainStartEndE-ValueType
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169536
AA Change: D321G

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: D321G

DomainStartEndE-ValueType
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 90 109 N/A INTRINSIC
transmembrane domain 190 212 N/A INTRINSIC
low complexity region 280 290 N/A INTRINSIC
FYVE 342 415 2.52e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170184
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 encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,069,831 D1288N probably damaging Het
Abcc1 T C 16: 14,411,519 F372L probably damaging Het
Adcy2 G T 13: 68,888,067 N158K possibly damaging Het
Apba1 A G 19: 23,937,636 probably null Het
Arap3 T C 18: 37,996,979 E43G possibly damaging Het
Bet1 A T 6: 4,082,456 probably null Het
Blm A G 7: 80,502,961 probably benign Het
Brinp1 T C 4: 68,763,142 I384V probably benign Het
Cyp3a13 T C 5: 137,918,995 probably benign Het
Dlg5 A T 14: 24,172,203 I480N possibly damaging Het
Exoc3l4 A G 12: 111,428,483 K538R probably benign Het
Flna G T X: 74,228,500 T2008K probably benign Het
Hc T A 2: 34,996,027 Q1388L probably benign Het
Ifitm1 T C 7: 140,968,292 S13P probably benign Het
Il1rapl2 A G X: 138,789,649 I288V probably benign Het
Il31 C T 5: 123,480,490 V157M possibly damaging Het
N4bp2l1 A G 5: 150,576,638 probably null Het
Nell1 T C 7: 50,219,607 I210T probably damaging Het
Olfr549 T C 7: 102,554,883 Y200H probably damaging Het
Olfr872 T A 9: 20,260,488 I216N possibly damaging Het
Phf1 A G 17: 26,934,541 probably benign Het
Phf10 G A 17: 14,945,149 P482S probably benign Het
Ppp6r3 T G 19: 3,473,848 M522L possibly damaging Het
Qtrt1 T C 9: 21,417,355 L205P probably damaging Het
Vmn2r11 T C 5: 109,054,792 I140V probably benign Het
Xylt2 C T 11: 94,666,345 E107K possibly damaging Het
Zfp512b A T 2: 181,589,922 F155Y possibly damaging Het
Other mutations in Zfyve27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Zfyve27 APN 19 42183433 missense probably benign
IGL02040:Zfyve27 APN 19 42179391 missense probably damaging 1.00
IGL02135:Zfyve27 APN 19 42184136 missense probably damaging 1.00
ignored UTSW 19 42171731 missense probably benign 0.01
overlooked UTSW 19 42182657 critical splice acceptor site probably null
R0388:Zfyve27 UTSW 19 42189585 missense probably damaging 1.00
R1589:Zfyve27 UTSW 19 42171745 critical splice donor site probably null
R1908:Zfyve27 UTSW 19 42171548 start codon destroyed probably null 1.00
R2151:Zfyve27 UTSW 19 42171731 missense probably benign 0.01
R2204:Zfyve27 UTSW 19 42183446 missense probably damaging 1.00
R2205:Zfyve27 UTSW 19 42183446 missense probably damaging 1.00
R5800:Zfyve27 UTSW 19 42182663 missense probably damaging 1.00
R5819:Zfyve27 UTSW 19 42183496 missense probably benign 0.00
R5870:Zfyve27 UTSW 19 42171671 missense probably benign 0.01
R5959:Zfyve27 UTSW 19 42179448 missense unknown
R6217:Zfyve27 UTSW 19 42189577 missense probably damaging 1.00
R6281:Zfyve27 UTSW 19 42182755 missense probably damaging 1.00
R6337:Zfyve27 UTSW 19 42182657 critical splice acceptor site probably null
R6638:Zfyve27 UTSW 19 42181497 splice site probably null
Posted On2014-05-07