Incidental Mutation 'R0388:Zfyve27'
ID 31438
Institutional Source Beutler Lab
Gene Symbol Zfyve27
Ensembl Gene ENSMUSG00000018820
Gene Name zinc finger, FYVE domain containing 27
Synonyms 9530077C24Rik, 2210011N02Rik, protrudin
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0388 (G1)
Quality Score 187
Status Validated
Chromosome 19
Chromosomal Location 42159006-42183032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42178024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 382 (S382P)
Ref Sequence ENSEMBL: ENSMUSP00000097042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099443] [ENSMUST00000169536]
AlphaFold Q3TXX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099443
AA Change: S382P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: S382P

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 damaging
Transcript: ENSMUST00000169536
AA Change: S389P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: S389P

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
Meta Mutation Damage Score 0.1094 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Other mutations in Zfyve27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Zfyve27 APN 19 42,171,872 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GTTTGCTAAGGCCCACACCCTTATC -3'
(R):5'- GGGGAGGACTTCCTTTTGCTCATC -3'

Sequencing Primer
(F):5'- ACACCCTTATCAGCCTTCTG -3'
(R):5'- GCTCATCTACAGGTTTCATTTACAAC -3'
Posted On 2013-04-24