Incidental Mutation 'IGL00485:Zfyve27'
ID 15027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve27
Ensembl Gene ENSMUSG00000018820
Gene Name zinc finger, FYVE domain containing 27
Synonyms 9530077C24Rik, 2210011N02Rik, protrudin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL00485
Quality Score
Status
Chromosome 19
Chromosomal Location 42159006-42183032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42171872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 229 (C229S)
Ref Sequence ENSEMBL: ENSMUSP00000130684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099443] [ENSMUST00000168130] [ENSMUST00000169536]
AlphaFold Q3TXX3
Predicted Effect probably benign
Transcript: ENSMUST00000099443
AA Change: C229S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: C229S

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
AA Change: C135S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820
AA Change: C135S

DomainStartEndE-ValueType
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169536
AA Change: C229S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: C229S

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Other mutations in Zfyve27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Zfyve27 APN 19 42,167,830 (GRCm39) missense probably damaging 1.00
IGL02048:Zfyve27 APN 19 42,174,296 (GRCm39) missense probably damaging 0.99
IGL02135:Zfyve27 APN 19 42,172,575 (GRCm39) missense probably damaging 1.00
Forgotten UTSW 19 42,178,016 (GRCm39) missense probably damaging 1.00
ignored UTSW 19 42,160,170 (GRCm39) missense probably benign 0.01
overlooked UTSW 19 42,171,096 (GRCm39) critical splice acceptor site probably null
R0388:Zfyve27 UTSW 19 42,178,024 (GRCm39) missense probably damaging 1.00
R1589:Zfyve27 UTSW 19 42,160,184 (GRCm39) critical splice donor site probably null
R1908:Zfyve27 UTSW 19 42,159,987 (GRCm39) start codon destroyed probably null 1.00
R2151:Zfyve27 UTSW 19 42,160,170 (GRCm39) missense probably benign 0.01
R2204:Zfyve27 UTSW 19 42,171,885 (GRCm39) missense probably damaging 1.00
R2205:Zfyve27 UTSW 19 42,171,885 (GRCm39) missense probably damaging 1.00
R5800:Zfyve27 UTSW 19 42,171,102 (GRCm39) missense probably damaging 1.00
R5819:Zfyve27 UTSW 19 42,171,935 (GRCm39) missense probably benign 0.00
R5870:Zfyve27 UTSW 19 42,160,110 (GRCm39) missense probably benign 0.01
R5959:Zfyve27 UTSW 19 42,167,887 (GRCm39) missense unknown
R6217:Zfyve27 UTSW 19 42,178,016 (GRCm39) missense probably damaging 1.00
R6281:Zfyve27 UTSW 19 42,171,194 (GRCm39) missense probably damaging 1.00
R6337:Zfyve27 UTSW 19 42,171,096 (GRCm39) critical splice acceptor site probably null
R6638:Zfyve27 UTSW 19 42,169,936 (GRCm39) splice site probably null
R7438:Zfyve27 UTSW 19 42,177,959 (GRCm39) critical splice acceptor site probably null
R8350:Zfyve27 UTSW 19 42,167,911 (GRCm39) missense probably benign 0.34
R9175:Zfyve27 UTSW 19 42,169,997 (GRCm39) missense probably damaging 1.00
R9652:Zfyve27 UTSW 19 42,165,856 (GRCm39) missense possibly damaging 0.90
Posted On 2012-12-06