Incidental Mutation 'R2173:Zfyve16'
ID 237642
Institutional Source Beutler Lab
Gene Symbol Zfyve16
Ensembl Gene ENSMUSG00000021706
Gene Name zinc finger, FYVE domain containing 16
Synonyms B130024H06Rik
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92624257-92667318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92631596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1333 (M1333T)
Ref Sequence ENSEMBL: ENSMUSP00000022217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022217]
AlphaFold Q80U44
Predicted Effect probably damaging
Transcript: ENSMUST00000022217
AA Change: M1333T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: M1333T

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 0.2026 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H 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
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'- CATCACATGAGAAATTCTTACCCTT -3'
(R):5'- ATTCTGTTACTTGGCACATATTCTT -3'

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