Incidental Mutation 'R1597:Zfyve16'
ID 175894
Institutional Source Beutler Lab
Gene Symbol Zfyve16
Ensembl Gene ENSMUSG00000021706
Gene Name zinc finger, FYVE domain containing 16
Synonyms B130024H06Rik
MMRRC Submission 039634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R1597 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92624257-92667318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92644755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1149 (N1149I)
Ref Sequence ENSEMBL: ENSMUSP00000022217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022217]
AlphaFold Q80U44
Predicted Effect probably benign
Transcript: ENSMUST00000022217
AA Change: N1149I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: N1149I

DomainStartEndE-ValueType
low complexity region 163 175 N/A INTRINSIC
low complexity region 367 381 N/A INTRINSIC
low complexity region 438 449 N/A INTRINSIC
low complexity region 455 484 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
FYVE 727 794 7.25e-31 SMART
low complexity region 821 838 N/A INTRINSIC
low complexity region 1002 1014 N/A INTRINSIC
low complexity region 1050 1063 N/A INTRINSIC
Pfam:DUF3480 1155 1503 3.3e-169 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156586
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 A T 19: 34,229,983 (GRCm39) probably benign Het
Afap1l2 T C 19: 56,902,881 (GRCm39) N748S probably benign Het
Aox1 T A 1: 58,086,326 (GRCm39) I77N probably damaging Het
Ap1s1 A T 5: 137,072,095 (GRCm39) M20K probably damaging Het
Atad3a A T 4: 155,835,892 (GRCm39) probably null Het
Atp1b1 G T 1: 164,265,889 (GRCm39) R291S probably damaging Het
Birc7 T C 2: 180,570,974 (GRCm39) V12A possibly damaging Het
Btnl2 T C 17: 34,582,211 (GRCm39) V259A probably damaging Het
Cdh11 A T 8: 103,377,343 (GRCm39) N434K probably benign Het
Cel G T 2: 28,450,479 (GRCm39) probably benign Het
Col10a1 A G 10: 34,271,074 (GRCm39) K349E probably damaging Het
Ddhd2 A G 8: 26,239,768 (GRCm39) V315A probably benign Het
Dnah17 C A 11: 117,994,324 (GRCm39) probably benign Het
Dock2 T C 11: 34,595,474 (GRCm39) T441A probably benign Het
Ermap A T 4: 119,041,152 (GRCm39) I286N probably damaging Het
Fbxl17 T C 17: 63,794,813 (GRCm39) K423R probably damaging Het
Frem2 T C 3: 53,561,940 (GRCm39) T856A probably benign Het
Gas6 T C 8: 13,543,901 (GRCm39) E64G probably damaging Het
Gzma T A 13: 113,232,331 (GRCm39) N190I probably damaging Het
Ifngr1 C T 10: 19,485,090 (GRCm39) T363M probably damaging Het
Itga7 A G 10: 128,782,732 (GRCm39) T690A probably benign Het
Kif15 A G 9: 122,823,074 (GRCm39) E485G probably benign Het
Kif18a A G 2: 109,123,336 (GRCm39) I203M probably damaging Het
Klhl1 A T 14: 96,438,647 (GRCm39) probably null Het
Lrch3 C T 16: 32,770,781 (GRCm39) Q128* probably null Het
Lrriq4 C G 3: 30,705,037 (GRCm39) P355R probably damaging Het
Mcm10 A T 2: 5,003,563 (GRCm39) H551Q probably damaging Het
Mcm3ap T C 10: 76,319,060 (GRCm39) F763L probably damaging Het
Mdc1 T A 17: 36,156,758 (GRCm39) V55E probably damaging Het
Me2 A T 18: 73,931,016 (GRCm39) N92K probably damaging Het
Mtss1 A G 15: 58,815,560 (GRCm39) S667P probably damaging Het
Mup5 A T 4: 61,753,317 (GRCm39) Y15N possibly damaging Het
Mx1 T A 16: 97,256,329 (GRCm39) M197L probably damaging Het
N4bp2 C T 5: 65,964,483 (GRCm39) T844I probably benign Het
Nlrc3 T A 16: 3,781,859 (GRCm39) R517W probably damaging Het
Nos3 A T 5: 24,573,995 (GRCm39) I227F probably damaging Het
Or52a5 A G 7: 103,427,267 (GRCm39) F95S probably benign Het
Pabpc2 A G 18: 39,906,953 (GRCm39) N73D probably damaging Het
Pcdhb18 A G 18: 37,624,820 (GRCm39) R717G probably benign Het
Pcsk5 T A 19: 17,413,964 (GRCm39) M1702L probably benign Het
Plxna2 A C 1: 194,431,614 (GRCm39) probably benign Het
Polr2a A G 11: 69,630,755 (GRCm39) M1221T possibly damaging Het
Polr2b A G 5: 77,473,948 (GRCm39) D384G probably damaging Het
Ppl T A 16: 4,925,438 (GRCm39) H67L probably benign Het
Psmd5 A G 2: 34,757,035 (GRCm39) L63S probably damaging Het
Psme1 A G 14: 55,818,222 (GRCm39) T150A probably damaging Het
Rapgef5 C T 12: 117,621,940 (GRCm39) R33C probably damaging Het
Rela G A 19: 5,695,359 (GRCm39) R295H probably damaging Het
Rpe65 T A 3: 159,320,421 (GRCm39) V326E probably damaging Het
Scn5a C A 9: 119,391,563 (GRCm39) R43L probably damaging Het
Skida1 T C 2: 18,051,143 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,283,587 (GRCm39) A469T probably benign Het
Spaca7 G T 8: 12,630,991 (GRCm39) E48* probably null Het
Syn3 G T 10: 85,970,908 (GRCm39) T238K probably benign Het
Taok1 A G 11: 77,470,626 (GRCm39) S60P probably benign Het
Tecpr1 A G 5: 144,151,128 (GRCm39) I256T probably benign Het
Tenm4 T A 7: 96,552,196 (GRCm39) probably null Het
Tex15 A G 8: 34,061,511 (GRCm39) T588A probably damaging Het
Tgfbi T A 13: 56,780,004 (GRCm39) probably benign Het
Tmem62 G A 2: 120,814,843 (GRCm39) A169T probably benign Het
Tnc A G 4: 63,924,621 (GRCm39) S1026P probably benign Het
Tnik T C 3: 28,658,418 (GRCm39) S568P probably damaging Het
Trpm6 A T 19: 18,804,888 (GRCm39) I947F probably damaging Het
Ttc27 T A 17: 75,170,402 (GRCm39) L832Q possibly damaging Het
U2surp C T 9: 95,363,793 (GRCm39) probably benign Het
Ube4a A T 9: 44,841,064 (GRCm39) D1009E possibly damaging Het
Unc13d T C 11: 115,965,262 (GRCm39) E192G probably benign Het
Vmn2r71 T C 7: 85,273,352 (GRCm39) V722A possibly damaging Het
Zfp386 T C 12: 116,023,709 (GRCm39) S476P probably damaging Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Other mutations in Zfyve16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Zfyve16 APN 13 92,653,046 (GRCm39) missense possibly damaging 0.56
IGL00737:Zfyve16 APN 13 92,657,626 (GRCm39) nonsense probably null
IGL00741:Zfyve16 APN 13 92,660,761 (GRCm39) missense probably damaging 1.00
IGL00753:Zfyve16 APN 13 92,657,626 (GRCm39) nonsense probably null
IGL01123:Zfyve16 APN 13 92,629,030 (GRCm39) missense probably damaging 1.00
IGL01149:Zfyve16 APN 13 92,644,791 (GRCm39) missense probably damaging 1.00
IGL01414:Zfyve16 APN 13 92,658,704 (GRCm39) missense probably benign 0.04
IGL01771:Zfyve16 APN 13 92,658,680 (GRCm39) missense probably benign 0.38
IGL01889:Zfyve16 APN 13 92,659,077 (GRCm39) missense possibly damaging 0.87
IGL01928:Zfyve16 APN 13 92,641,006 (GRCm39) missense probably damaging 0.97
IGL02524:Zfyve16 APN 13 92,641,022 (GRCm39) missense probably benign 0.19
IGL03102:Zfyve16 APN 13 92,648,325 (GRCm39) missense possibly damaging 0.57
IGL03192:Zfyve16 APN 13 92,657,748 (GRCm39) missense possibly damaging 0.94
PIT4151001:Zfyve16 UTSW 13 92,657,712 (GRCm39) missense probably damaging 0.99
R0321:Zfyve16 UTSW 13 92,629,042 (GRCm39) missense probably damaging 0.99
R0548:Zfyve16 UTSW 13 92,631,452 (GRCm39) missense probably benign 0.00
R0555:Zfyve16 UTSW 13 92,653,028 (GRCm39) splice site probably benign
R0616:Zfyve16 UTSW 13 92,657,637 (GRCm39) missense probably damaging 1.00
R0727:Zfyve16 UTSW 13 92,630,386 (GRCm39) missense possibly damaging 0.81
R0730:Zfyve16 UTSW 13 92,657,985 (GRCm39) missense probably damaging 0.98
R1221:Zfyve16 UTSW 13 92,644,813 (GRCm39) missense possibly damaging 0.87
R1297:Zfyve16 UTSW 13 92,658,840 (GRCm39) missense probably benign 0.41
R1635:Zfyve16 UTSW 13 92,645,528 (GRCm39) missense probably damaging 1.00
R1803:Zfyve16 UTSW 13 92,640,593 (GRCm39) missense probably damaging 1.00
R1840:Zfyve16 UTSW 13 92,648,033 (GRCm39) missense possibly damaging 0.79
R1962:Zfyve16 UTSW 13 92,659,252 (GRCm39) missense possibly damaging 0.74
R2029:Zfyve16 UTSW 13 92,640,985 (GRCm39) missense probably damaging 0.98
R2083:Zfyve16 UTSW 13 92,660,770 (GRCm39) missense probably damaging 1.00
R2122:Zfyve16 UTSW 13 92,655,991 (GRCm39) nonsense probably null
R2173:Zfyve16 UTSW 13 92,631,596 (GRCm39) missense probably damaging 0.99
R3822:Zfyve16 UTSW 13 92,657,769 (GRCm39) missense probably damaging 1.00
R3857:Zfyve16 UTSW 13 92,631,479 (GRCm39) missense probably damaging 1.00
R4043:Zfyve16 UTSW 13 92,650,271 (GRCm39) splice site probably null
R4056:Zfyve16 UTSW 13 92,641,057 (GRCm39) missense probably damaging 1.00
R4495:Zfyve16 UTSW 13 92,625,075 (GRCm39) missense probably benign 0.25
R4518:Zfyve16 UTSW 13 92,657,820 (GRCm39) missense possibly damaging 0.86
R4835:Zfyve16 UTSW 13 92,658,693 (GRCm39) missense probably benign 0.18
R4862:Zfyve16 UTSW 13 92,644,764 (GRCm39) missense probably damaging 1.00
R4962:Zfyve16 UTSW 13 92,650,402 (GRCm39) missense probably damaging 1.00
R5117:Zfyve16 UTSW 13 92,642,197 (GRCm39) missense possibly damaging 0.95
R5344:Zfyve16 UTSW 13 92,658,096 (GRCm39) missense possibly damaging 0.79
R5358:Zfyve16 UTSW 13 92,644,771 (GRCm39) missense probably benign 0.04
R5407:Zfyve16 UTSW 13 92,636,792 (GRCm39) missense probably damaging 1.00
R5410:Zfyve16 UTSW 13 92,657,739 (GRCm39) missense probably benign 0.08
R5704:Zfyve16 UTSW 13 92,640,979 (GRCm39) splice site probably null
R5731:Zfyve16 UTSW 13 92,644,701 (GRCm39) missense probably benign 0.11
R5808:Zfyve16 UTSW 13 92,631,563 (GRCm39) nonsense probably null
R5828:Zfyve16 UTSW 13 92,650,410 (GRCm39) missense probably damaging 1.00
R5928:Zfyve16 UTSW 13 92,658,625 (GRCm39) missense probably benign 0.01
R6044:Zfyve16 UTSW 13 92,659,174 (GRCm39) nonsense probably null
R6141:Zfyve16 UTSW 13 92,648,105 (GRCm39) missense probably benign 0.00
R6538:Zfyve16 UTSW 13 92,641,024 (GRCm39) missense probably damaging 1.00
R6594:Zfyve16 UTSW 13 92,650,326 (GRCm39) missense probably benign 0.23
R6767:Zfyve16 UTSW 13 92,644,707 (GRCm39) missense probably damaging 1.00
R6942:Zfyve16 UTSW 13 92,653,139 (GRCm39) missense probably benign
R7011:Zfyve16 UTSW 13 92,658,495 (GRCm39) missense probably benign 0.00
R7381:Zfyve16 UTSW 13 92,657,654 (GRCm39) missense probably damaging 1.00
R7531:Zfyve16 UTSW 13 92,659,473 (GRCm39) missense probably damaging 1.00
R7617:Zfyve16 UTSW 13 92,641,070 (GRCm39) missense probably damaging 1.00
R7831:Zfyve16 UTSW 13 92,658,836 (GRCm39) missense probably benign 0.05
R8127:Zfyve16 UTSW 13 92,642,185 (GRCm39) missense probably damaging 1.00
R8382:Zfyve16 UTSW 13 92,650,328 (GRCm39) missense probably benign
R8467:Zfyve16 UTSW 13 92,644,790 (GRCm39) missense probably damaging 1.00
R8765:Zfyve16 UTSW 13 92,658,055 (GRCm39) missense probably benign 0.15
R8792:Zfyve16 UTSW 13 92,659,669 (GRCm39) missense probably benign 0.08
R9112:Zfyve16 UTSW 13 92,659,563 (GRCm39) missense possibly damaging 0.75
R9169:Zfyve16 UTSW 13 92,657,871 (GRCm39) missense probably damaging 1.00
R9599:Zfyve16 UTSW 13 92,636,763 (GRCm39) missense probably damaging 1.00
R9608:Zfyve16 UTSW 13 92,636,788 (GRCm39) missense probably damaging 1.00
R9636:Zfyve16 UTSW 13 92,631,456 (GRCm39) missense probably benign 0.17
R9669:Zfyve16 UTSW 13 92,656,007 (GRCm39) missense probably damaging 0.99
R9685:Zfyve16 UTSW 13 92,659,311 (GRCm39) missense possibly damaging 0.75
Z1176:Zfyve16 UTSW 13 92,629,171 (GRCm39) missense possibly damaging 0.95
Z1177:Zfyve16 UTSW 13 92,659,504 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GGCCGACAACACTAACTCGTCTACT -3'
(R):5'- GTGTATTGGGGCATTCACACTCAGA -3'

Sequencing Primer
(F):5'- tgtgaaggaggaggaccag -3'
(R):5'- GGCATTCACACTCAGAATGTTTC -3'
Posted On 2014-04-24