Incidental Mutation 'R3857:Zfyve16'
ID 276225
Institutional Source Beutler Lab
Gene Symbol Zfyve16
Ensembl Gene ENSMUSG00000021706
Gene Name zinc finger, FYVE domain containing 16
Synonyms B130024H06Rik
MMRRC Submission 040785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R3857 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92624257-92667318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92631479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1372 (I1372N)
Ref Sequence ENSEMBL: ENSMUSP00000022217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022217]
AlphaFold Q80U44
Predicted Effect probably damaging
Transcript: ENSMUST00000022217
AA Change: I1372N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: I1372N

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: ENSMUST00000156586
Meta Mutation Damage Score 0.4432 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 98% (41/42)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdkrb2 T C 12: 105,558,698 (GRCm39) V313A probably benign Het
Ccng1 A G 11: 40,644,660 (GRCm39) L79P probably damaging Het
Celf1 A G 2: 90,843,086 (GRCm39) E411G probably damaging Het
Cps1 A G 1: 67,207,437 (GRCm39) Y582C probably damaging Het
Dnah8 A G 17: 30,882,396 (GRCm39) D656G probably damaging Het
Eif1ad17 T A 12: 87,979,016 (GRCm39) D133E unknown Het
Erc2 A G 14: 28,197,599 (GRCm39) probably benign Het
Ercc8 A G 13: 108,330,648 (GRCm39) E395G possibly damaging Het
Ezhip A G X: 5,994,710 (GRCm39) S102P possibly damaging Het
F13a1 A G 13: 37,209,668 (GRCm39) L99P probably benign Het
Fzd3 A T 14: 65,477,288 (GRCm39) C89S possibly damaging Het
Gse1 T A 8: 121,297,872 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hs3st1 G A 5: 39,772,256 (GRCm39) T129I probably damaging Het
Irx1 A T 13: 72,111,577 (GRCm39) Y11N possibly damaging Het
Kdm3b T A 18: 34,966,440 (GRCm39) I1658N probably benign Het
Mtmr4 G A 11: 87,488,088 (GRCm39) V24M probably damaging Het
Nfatc1 T C 18: 80,708,490 (GRCm39) probably benign Het
Obscn A G 11: 58,971,795 (GRCm39) probably benign Het
Pcna A T 2: 132,091,541 (GRCm39) S261T probably benign Het
Pigr T C 1: 130,774,998 (GRCm39) V475A probably benign Het
Pitpnc1 T C 11: 107,211,631 (GRCm39) probably null Het
Psph A G 5: 129,848,540 (GRCm39) M47T probably damaging Het
Pth2r A T 1: 65,361,206 (GRCm39) I52F probably damaging Het
Rtn4rl2 A G 2: 84,710,730 (GRCm39) probably null Het
Senp6 A G 9: 79,999,603 (GRCm39) T7A possibly damaging Het
Slc4a1 A T 11: 102,247,947 (GRCm39) V349E probably benign Het
Spice1 T C 16: 44,175,806 (GRCm39) S2P probably damaging Het
Spty2d1 G A 7: 46,648,044 (GRCm39) T295I probably benign Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Togaram1 A G 12: 65,027,633 (GRCm39) Q874R possibly damaging Het
Ttn T A 2: 76,739,319 (GRCm39) D3740V probably benign Het
Unc13c G T 9: 73,606,390 (GRCm39) Y1323* probably null Het
Vmn1r19 A T 6: 57,382,098 (GRCm39) Y217F possibly damaging Het
Zfp101 G T 17: 33,601,405 (GRCm39) S79* probably null Het
Zfp512 G T 5: 31,630,184 (GRCm39) R222L 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
R1597:Zfyve16 UTSW 13 92,644,755 (GRCm39) missense probably benign 0.02
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
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'- CTTCCTGCTCAAGAAAACTTAGGAG -3'
(R):5'- CACTTGGCACATATTCTGAAGTTTGG -3'

Sequencing Primer
(F):5'- CTTAGGAGTCTGATTAGTTACATGC -3'
(R):5'- TTGGCAAACTCCGTGTGAAGC -3'
Posted On 2015-04-06