Incidental Mutation 'R8948:Zfyve1'
ID 681470
Institutional Source Beutler Lab
Gene Symbol Zfyve1
Ensembl Gene ENSMUSG00000042628
Gene Name zinc finger, FYVE domain containing 1
Synonyms
MMRRC Submission 068786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8948 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 83593332-83643996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 83594802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 730 (V730G)
Ref Sequence ENSEMBL: ENSMUSP00000152501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048319] [ENSMUST00000221919] [ENSMUST00000222448]
AlphaFold Q810J8
Predicted Effect probably benign
Transcript: ENSMUST00000048319
AA Change: V730G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: V730G

DomainStartEndE-ValueType
low complexity region 429 436 N/A INTRINSIC
FYVE 590 660 8.36e-13 SMART
FYVE 707 776 1.15e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221919
AA Change: V730G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222448
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T C 16: 8,418,805 (GRCm39) I102T possibly damaging Het
Abca9 T C 11: 110,054,206 (GRCm39) probably null Het
Ago3 T C 4: 126,244,115 (GRCm39) probably null Het
Akap1 G T 11: 88,735,099 (GRCm39) A75E probably damaging Het
Atad2b C A 12: 5,041,012 (GRCm39) A227E possibly damaging Het
Bmpr1a G T 14: 34,163,148 (GRCm39) H81N possibly damaging Het
Camkv C T 9: 107,824,296 (GRCm39) T236I probably damaging Het
Ccdc30 T C 4: 119,181,358 (GRCm39) E601G probably benign Het
Ccin G A 4: 43,984,064 (GRCm39) R157H probably damaging Het
Cdkn3 C T 14: 47,004,780 (GRCm39) P114L probably damaging Het
Col6a2 C T 10: 76,446,527 (GRCm39) G352D probably damaging Het
Csf2rb A T 15: 78,232,520 (GRCm39) D609V probably benign Het
Ctc1 T G 11: 68,917,175 (GRCm39) Y110* probably null Het
D630023F18Rik T A 1: 65,147,899 (GRCm39) N218I probably damaging Het
Dchs1 A T 7: 105,408,212 (GRCm39) H1873Q probably benign Het
Dnah1 T C 14: 31,012,396 (GRCm39) D1901G probably damaging Het
Eddm3b T A 14: 51,354,110 (GRCm39) S33T probably damaging Het
Efcc1 A G 6: 87,728,768 (GRCm39) T408A probably benign Het
Epas1 A G 17: 87,134,920 (GRCm39) T518A probably benign Het
Ergic2 A T 6: 148,104,005 (GRCm39) M84K probably damaging Het
Ergic3 T C 2: 155,853,160 (GRCm39) V201A probably benign Het
Espn C A 4: 152,223,278 (GRCm39) W258L probably damaging Het
Gm45337 A G 7: 141,697,817 (GRCm39) S156P unknown Het
Hmcn2 T C 2: 31,244,741 (GRCm39) Y733H probably damaging Het
Itga2 C T 13: 115,009,866 (GRCm39) G363D probably damaging Het
Kcnk5 T C 14: 20,192,046 (GRCm39) R372G probably benign Het
Khdc4 G T 3: 88,617,219 (GRCm39) S506I probably damaging Het
Kif11 T A 19: 37,386,602 (GRCm39) D387E probably damaging Het
Lrrn2 A C 1: 132,866,104 (GRCm39) I390L probably benign Het
Map2 G T 1: 66,419,684 (GRCm39) R5L probably damaging Het
Muc16 C T 9: 18,558,529 (GRCm39) R2588K unknown Het
Or3a10 A G 11: 73,935,782 (GRCm39) F106S possibly damaging Het
Or5b99 A T 19: 12,976,445 (GRCm39) I32F probably damaging Het
Or7g29 A G 9: 19,286,262 (GRCm39) I305T probably benign Het
Osbpl8 T C 10: 111,103,530 (GRCm39) I178T probably damaging Het
Pak2 A T 16: 31,852,729 (GRCm39) probably benign Het
Perp A T 10: 18,729,326 (GRCm39) I86F possibly damaging Het
Plpp1 A T 13: 112,993,511 (GRCm39) I149F probably damaging Het
Polr1f T A 12: 33,483,526 (GRCm39) Y93N probably damaging Het
Preb A G 5: 31,115,671 (GRCm39) S220P probably damaging Het
Prrt4 T C 6: 29,177,665 (GRCm39) T35A probably damaging Het
Ror2 T A 13: 53,286,032 (GRCm39) I73F possibly damaging Het
Rpl36-ps4 A G 17: 88,228,574 (GRCm39) T40A probably damaging Het
Rsbn1 A T 3: 103,868,830 (GRCm39) H623L possibly damaging Het
Sap30 C A 8: 57,940,456 (GRCm39) A49S possibly damaging Het
Sf3b3 T C 8: 111,550,075 (GRCm39) T648A probably benign Het
Sh3pxd2a T C 19: 47,361,882 (GRCm39) R83G probably damaging Het
Slc35e1 A T 8: 73,246,042 (GRCm39) I130N probably damaging Het
Smchd1 C T 17: 71,743,767 (GRCm39) R466Q probably damaging Het
Smgc C T 15: 91,722,565 (GRCm39) probably benign Het
Stk32b A T 5: 37,612,341 (GRCm39) N348K possibly damaging Het
Sult2a1 A G 7: 13,530,342 (GRCm39) F266L probably damaging Het
Sult2a2 A T 7: 13,467,484 (GRCm39) M1L probably damaging Het
Telo2 A G 17: 25,332,085 (GRCm39) V161A probably benign Het
Tmed11 C T 5: 108,925,293 (GRCm39) R173H probably damaging Het
Trappc6a G A 7: 19,249,923 (GRCm39) probably benign Het
Vmn2r5 A T 3: 64,398,522 (GRCm39) V819D probably damaging Het
Vmn2r74 A G 7: 85,606,569 (GRCm39) I259T probably damaging Het
Vps13a A G 19: 16,723,340 (GRCm39) I286T probably damaging Het
Vsig10l A T 7: 43,117,623 (GRCm39) I739F possibly damaging Het
Zfyve9 A T 4: 108,499,288 (GRCm39) D1284E possibly damaging Het
Zmym4 C T 4: 126,758,060 (GRCm39) R1498H probably damaging Het
Znhit2 A T 19: 6,111,803 (GRCm39) R183* probably null Het
Other mutations in Zfyve1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Zfyve1 APN 12 83,621,572 (GRCm39) missense probably benign 0.09
IGL00475:Zfyve1 APN 12 83,602,485 (GRCm39) critical splice acceptor site probably null
IGL01291:Zfyve1 APN 12 83,601,779 (GRCm39) missense probably benign 0.04
IGL01380:Zfyve1 APN 12 83,599,281 (GRCm39) missense probably damaging 1.00
IGL02037:Zfyve1 APN 12 83,594,694 (GRCm39) missense probably damaging 1.00
IGL02184:Zfyve1 APN 12 83,605,467 (GRCm39) missense probably benign 0.29
IGL02619:Zfyve1 APN 12 83,597,718 (GRCm39) unclassified probably benign
IGL03031:Zfyve1 APN 12 83,621,595 (GRCm39) missense probably damaging 0.99
IGL03105:Zfyve1 APN 12 83,605,413 (GRCm39) missense probably damaging 1.00
sasso UTSW 12 83,621,830 (GRCm39) missense probably damaging 1.00
ANU05:Zfyve1 UTSW 12 83,601,779 (GRCm39) missense probably benign 0.04
R0123:Zfyve1 UTSW 12 83,601,847 (GRCm39) splice site probably benign
R0225:Zfyve1 UTSW 12 83,601,847 (GRCm39) splice site probably benign
R0468:Zfyve1 UTSW 12 83,602,048 (GRCm39) splice site probably benign
R1218:Zfyve1 UTSW 12 83,594,825 (GRCm39) missense possibly damaging 0.79
R1896:Zfyve1 UTSW 12 83,602,388 (GRCm39) missense probably damaging 0.99
R2291:Zfyve1 UTSW 12 83,594,705 (GRCm39) missense probably damaging 0.99
R4023:Zfyve1 UTSW 12 83,641,296 (GRCm39) missense probably benign
R4026:Zfyve1 UTSW 12 83,641,296 (GRCm39) missense probably benign
R4209:Zfyve1 UTSW 12 83,621,909 (GRCm39) missense probably damaging 1.00
R4211:Zfyve1 UTSW 12 83,621,909 (GRCm39) missense probably damaging 1.00
R4780:Zfyve1 UTSW 12 83,605,421 (GRCm39) missense probably damaging 1.00
R4907:Zfyve1 UTSW 12 83,621,646 (GRCm39) missense probably damaging 0.96
R4908:Zfyve1 UTSW 12 83,598,345 (GRCm39) missense probably damaging 1.00
R4998:Zfyve1 UTSW 12 83,594,839 (GRCm39) missense possibly damaging 0.69
R5076:Zfyve1 UTSW 12 83,602,421 (GRCm39) missense probably damaging 1.00
R5303:Zfyve1 UTSW 12 83,621,830 (GRCm39) missense probably damaging 1.00
R5628:Zfyve1 UTSW 12 83,621,663 (GRCm39) missense probably benign 0.00
R5739:Zfyve1 UTSW 12 83,621,910 (GRCm39) missense possibly damaging 0.61
R6007:Zfyve1 UTSW 12 83,605,478 (GRCm39) missense probably damaging 1.00
R6355:Zfyve1 UTSW 12 83,641,415 (GRCm39) missense probably benign 0.01
R6641:Zfyve1 UTSW 12 83,641,270 (GRCm39) missense probably benign
R6735:Zfyve1 UTSW 12 83,641,618 (GRCm39) missense possibly damaging 0.90
R7222:Zfyve1 UTSW 12 83,601,779 (GRCm39) missense probably benign
R7278:Zfyve1 UTSW 12 83,598,314 (GRCm39) missense probably damaging 1.00
R7464:Zfyve1 UTSW 12 83,598,261 (GRCm39) missense probably benign 0.00
R8690:Zfyve1 UTSW 12 83,597,681 (GRCm39) missense probably damaging 1.00
R8857:Zfyve1 UTSW 12 83,598,374 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTCTGTTTCTAACCCTGAGAACC -3'
(R):5'- GCACAGTAATGGTTCTGTGTGC -3'

Sequencing Primer
(F):5'- CTGTTTCTAACCCTGAGAACCTAAGG -3'
(R):5'- CGGTTGGGATGGCATAAGC -3'
Posted On 2021-08-31