Incidental Mutation 'R2204:Zfyve27'
ID 238941
Institutional Source Beutler Lab
Gene Symbol Zfyve27
Ensembl Gene ENSMUSG00000018820
Gene Name zinc finger, FYVE domain containing 27
Synonyms 9530077C24Rik, 2210011N02Rik, protrudin
MMRRC Submission 040206-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2204 (G1)
Quality Score 185
Status Not validated
Chromosome 19
Chromosomal Location 42159006-42183032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42171885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 139 (A139D)
Ref Sequence ENSEMBL: ENSMUSP00000129561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099443] [ENSMUST00000168130] [ENSMUST00000169536]
AlphaFold Q3TXX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099443
AA Change: A233D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820
AA Change: A233D

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: ENSMUST00000168130
AA Change: A139D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820
AA Change: A139D

DomainStartEndE-ValueType
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169536
AA Change: A233D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820
AA Change: A233D

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630076J17Rik A G 3: 107,140,943 (GRCm39) probably benign Het
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Acsf3 C T 8: 123,540,383 (GRCm39) S527F probably damaging Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ankrd2 C A 19: 42,032,558 (GRCm39) A273E probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Atg16l1 A C 1: 87,694,737 (GRCm39) Q138P probably benign Het
Bap1 T C 14: 30,978,658 (GRCm39) V23A probably benign Het
Cartpt A T 13: 100,037,133 (GRCm39) S4T probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Ceacam11 C T 7: 17,709,273 (GRCm39) T157I possibly damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Chrnb4 G A 9: 54,951,132 (GRCm39) R44C probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Espl1 A G 15: 102,214,340 (GRCm39) E693G probably damaging Het
Fat1 G T 8: 45,476,737 (GRCm39) A1928S probably damaging Het
Fiz1 C T 7: 5,011,685 (GRCm39) E278K probably benign Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Hlcs T C 16: 94,032,011 (GRCm39) T451A probably benign Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Ifit1bl1 C T 19: 34,571,741 (GRCm39) E239K probably benign Het
Ift52 G A 2: 162,873,150 (GRCm39) S221N probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,280 (GRCm39) K212N possibly damaging Het
Ndufb7 A G 8: 84,297,528 (GRCm39) H61R probably damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or10j2 T A 1: 173,097,703 (GRCm39) probably null Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Or7d11 T C 9: 19,966,507 (GRCm39) N84S possibly damaging Het
P3h4 G A 11: 100,304,832 (GRCm39) A185V probably benign Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Pramel32 A T 4: 88,546,355 (GRCm39) L329Q probably damaging Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sars2 T C 7: 28,449,099 (GRCm39) V302A possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Speg A T 1: 75,407,121 (GRCm39) T3137S probably benign Het
Ssh3 A G 19: 4,319,101 (GRCm39) L3P probably damaging Het
Stard9 GAAA GAA 2: 120,529,012 (GRCm39) probably null Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Taco1 C T 11: 105,962,760 (GRCm39) A149V probably benign Het
Tenm3 T C 8: 49,127,585 (GRCm39) E31G probably benign Het
Tmc1 A T 19: 20,918,269 (GRCm39) L2M probably benign Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Trabd2b T C 4: 114,460,191 (GRCm39) L443P probably damaging Het
Trip4 T A 9: 65,771,547 (GRCm39) I328F probably damaging Het
Trpc3 A G 3: 36,704,298 (GRCm39) F553S possibly damaging Het
Tssk2 A G 16: 17,716,603 (GRCm39) D2G possibly damaging Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging 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
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
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'- ATCACTGGCCGACTCTTTGTAG -3'
(R):5'- TGTGCCTCATAAACACATCGC -3'

Sequencing Primer
(F):5'- CCGACTCTTTGTAGCCGTGG -3'
(R):5'- TAAACACATCGCTAAGAATAAGAGGG -3'
Posted On 2014-10-02