Incidental Mutation 'R7222:Zfyve1'
ID 561897
Institutional Source Beutler Lab
Gene Symbol Zfyve1
Ensembl Gene ENSMUSG00000042628
Gene Name zinc finger, FYVE domain containing 1
Synonyms
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7222 (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 G at 83601779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 525 (F525L)
Ref Sequence ENSEMBL: ENSMUSP00000042224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048319] [ENSMUST00000221919] [ENSMUST00000222448]
AlphaFold Q810J8
Predicted Effect probably benign
Transcript: ENSMUST00000048319
AA Change: F525L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: F525L

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: F525L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222448
AA Change: F110L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging 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
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
R8948:Zfyve1 UTSW 12 83,594,802 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAATGGGCTCTACAGATCCTGTC -3'
(R):5'- CAAAGTATGCCTGGTCTGGG -3'

Sequencing Primer
(F):5'- TCACGTGCTAAAACTCATGGCTG -3'
(R):5'- GGGTGAGTTTTTCTAACACGCTAAAG -3'
Posted On 2019-06-26