Incidental Mutation 'R6638:Zfyve27'
ID 526335
Institutional Source Beutler Lab
Gene Symbol Zfyve27
Ensembl Gene ENSMUSG00000018820
Gene Name zinc finger, FYVE domain containing 27
Synonyms 9530077C24Rik, 2210011N02Rik, protrudin
MMRRC Submission 044759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6638 (G1)
Quality Score 199.009
Status Not validated
Chromosome 19
Chromosomal Location 42159006-42183032 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 42169936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099443] [ENSMUST00000099443] [ENSMUST00000168130] [ENSMUST00000168130] [ENSMUST00000169536] [ENSMUST00000169536]
AlphaFold Q3TXX3
Predicted Effect probably null
Transcript: ENSMUST00000099443
SMART Domains Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820

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 probably null
Transcript: ENSMUST00000099443
SMART Domains Protein: ENSMUSP00000097042
Gene: ENSMUSG00000018820

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: ENSMUST00000164455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165783
Predicted Effect probably null
Transcript: ENSMUST00000168130
SMART Domains Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820

DomainStartEndE-ValueType
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000168130
SMART Domains Protein: ENSMUSP00000129561
Gene: ENSMUSG00000018820

DomainStartEndE-ValueType
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169536
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820

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 probably null
Transcript: ENSMUST00000169536
SMART Domains Protein: ENSMUSP00000130684
Gene: ENSMUSG00000018820

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,451,521 (GRCm39) N868K probably benign Het
Cep112 T C 11: 108,746,696 (GRCm39) S980P probably damaging Het
Dlk1 A G 12: 109,426,204 (GRCm39) E95G probably damaging Het
Dnah6 A T 6: 73,012,263 (GRCm39) probably null Het
Dppa2 A T 16: 48,134,523 (GRCm39) H118L possibly damaging Het
Eif4enif1 T C 11: 3,192,463 (GRCm39) S740P probably damaging Het
Eva1b T C 4: 126,043,265 (GRCm39) S102P probably benign Het
Fndc3a G A 14: 72,796,688 (GRCm39) R637* probably null Het
Fras1 A T 5: 96,905,953 (GRCm39) D3119V possibly damaging Het
Hmgcr T C 13: 96,795,490 (GRCm39) T360A probably benign Het
Kif21a A G 15: 90,850,610 (GRCm39) V1017A probably damaging Het
Lats2 A G 14: 57,936,822 (GRCm39) S556P probably damaging Het
Lrrc7 A G 3: 157,840,940 (GRCm39) F1366S probably benign Het
Mtmr2 C A 9: 13,707,429 (GRCm39) A327E probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or9r3 T C 10: 129,947,739 (GRCm39) T307A probably benign Het
Ovch2 A T 7: 107,388,301 (GRCm39) H426Q probably benign Het
Plxna1 A T 6: 89,301,382 (GRCm39) V1506E probably damaging Het
Poldip3 A T 15: 83,017,401 (GRCm39) S225T probably damaging Het
Polr3h A G 15: 81,802,505 (GRCm39) L108P possibly damaging Het
Prss44 G A 9: 110,646,271 (GRCm39) V333M probably damaging Het
Ptprk C T 10: 28,471,807 (GRCm39) R1432C probably damaging Het
Rpl36al A G 12: 69,229,708 (GRCm39) L68P probably damaging Het
Tagap T C 17: 8,145,906 (GRCm39) S26P possibly damaging Het
Vapb A G 2: 173,613,362 (GRCm39) K87R probably damaging Het
Vmn1r35 G A 6: 66,655,848 (GRCm39) T274I possibly damaging Het
Wdsub1 A T 2: 59,700,785 (GRCm39) probably benign Het
Xrcc5 C T 1: 72,422,521 (GRCm39) S651L 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
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
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'- GCTTCACTTCAGCAGGGTTC -3'
(R):5'- AGGCATTGGCTTCACTGGAG -3'

Sequencing Primer
(F):5'- TCCCGAGGCGGTTGGAATG -3'
(R):5'- AGACAGGAGGGATCCACTC -3'
Posted On 2018-06-22