Incidental Mutation 'R4056:Zfyve16'
ID 314266
Institutional Source Beutler Lab
Gene Symbol Zfyve16
Ensembl Gene ENSMUSG00000021706
Gene Name zinc finger, FYVE domain containing 16
Synonyms B130024H06Rik
MMRRC Submission 041617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4056 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92624257-92667318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92641057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1229 (N1229S)
Ref Sequence ENSEMBL: ENSMUSP00000022217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022217]
AlphaFold Q80U44
Predicted Effect probably damaging
Transcript: ENSMUST00000022217
AA Change: N1229S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: N1229S

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 0.0698 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T A 11: 80,266,329 (GRCm39) probably benign Het
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Adamts18 T A 8: 114,464,212 (GRCm39) K749* probably null Het
Alms1 A G 6: 85,564,785 (GRCm39) E53G unknown Het
Bmper A G 9: 23,310,925 (GRCm39) H453R probably benign Het
Btg1 T A 10: 96,454,216 (GRCm39) M1K probably null Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cntfr A G 4: 41,658,900 (GRCm39) I277T probably damaging Het
Col6a4 C A 9: 105,903,665 (GRCm39) R1642I probably damaging Het
Ctnna3 T C 10: 64,838,347 (GRCm39) I808T probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
Dnah17 T C 11: 117,961,364 (GRCm39) T2554A probably benign Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Gabarapl1 T C 6: 129,515,593 (GRCm39) F77S probably damaging Het
Gvin3 G T 7: 106,203,216 (GRCm39) D9E possibly damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Hs3st2 T A 7: 121,099,925 (GRCm39) L257Q probably damaging Het
Ighv1-18 T C 12: 114,646,287 (GRCm39) T106A probably benign Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Iqgap2 A G 13: 95,886,541 (GRCm39) V114A probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Mast2 T A 4: 116,194,698 (GRCm39) probably benign Het
Myo18a A G 11: 77,702,839 (GRCm39) E5G possibly damaging Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Net1 G A 13: 3,934,949 (GRCm39) T359I probably damaging Het
Pcsk9 T A 4: 106,301,899 (GRCm39) H616L probably benign Het
Plekha5 G T 6: 140,534,958 (GRCm39) V597L possibly damaging Het
Plekhg3 T A 12: 76,612,021 (GRCm39) I374N probably damaging Het
Pros1 A T 16: 62,721,008 (GRCm39) R188* probably null Het
Rhbg C T 3: 88,150,755 (GRCm39) V434I probably damaging Het
Rims1 A G 1: 22,363,163 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,098 (GRCm39) probably null Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Slc22a23 A C 13: 34,482,987 (GRCm39) Y181* probably null Het
Spata31 T A 13: 65,069,469 (GRCm39) V539E probably benign Het
Trpv5 G A 6: 41,636,639 (GRCm39) R436C probably damaging Het
Vmn1r13 G A 6: 57,186,970 (GRCm39) C43Y probably benign Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign 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
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
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'- CTTTAGTCTAAACAACTCCTTGGG -3'
(R):5'- AGAGCAGTCTCCACACACTG -3'

Sequencing Primer
(F):5'- AACAACTCCTTGGGAATTTAACC -3'
(R):5'- GCAGTCTCCACACACTGTAAACTTC -3'
Posted On 2015-04-30