Incidental Mutation 'R1635:Zfyve16'
ID 173105
Institutional Source Beutler Lab
Gene Symbol Zfyve16
Ensembl Gene ENSMUSG00000021706
Gene Name zinc finger, FYVE domain containing 16
Synonyms B130024H06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92624257-92667318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92645528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1073 (S1073T)
Ref Sequence ENSEMBL: ENSMUSP00000022217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022217]
AlphaFold Q80U44
Predicted Effect probably damaging
Transcript: ENSMUST00000022217
AA Change: S1073T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: S1073T

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: ENSMUST00000154850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156586
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Banp A T 8: 122,727,750 (GRCm39) I130F probably damaging Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dab2 A G 15: 6,459,351 (GRCm39) Q400R possibly damaging Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mief2 G T 11: 60,622,234 (GRCm39) W268L probably damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Pdia4 A T 6: 47,776,133 (GRCm39) F421L possibly damaging Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Ppp2r2b T A 18: 43,192,275 (GRCm39) I11F probably benign Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Ptk7 C T 17: 46,884,460 (GRCm39) E757K possibly damaging Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly 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
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'- AGTTTTCCACCCCTAGTCTCAGCAG -3'
(R):5'- CCAGCTTCTCCTGAAGCACAGTTTG -3'

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