Incidental Mutation 'IGL01621:Fyco1'
ID 92619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fyco1
Ensembl Gene ENSMUSG00000025241
Gene Name FYVE and coiled-coil domain containing 1
Synonyms ZFYVE7, 2810409M01Rik, Mem2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01621
Quality Score
Status
Chromosome 9
Chromosomal Location 123618565-123680964 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 123656247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000184082]
AlphaFold Q8VDC1
Predicted Effect probably benign
Transcript: ENSMUST00000084715
SMART Domains Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 19 167 4.7e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000167595
SMART Domains Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 20 167 7.8e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000184082
SMART Domains Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 7 167 4.5e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
low complexity region 355 366 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Fyco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Fyco1 APN 9 123,667,962 (GRCm39) missense probably damaging 1.00
IGL01407:Fyco1 APN 9 123,657,944 (GRCm39) missense probably damaging 1.00
IGL01908:Fyco1 APN 9 123,658,295 (GRCm39) missense probably damaging 1.00
IGL02006:Fyco1 APN 9 123,658,896 (GRCm39) nonsense probably null
IGL02899:Fyco1 APN 9 123,659,396 (GRCm39) missense possibly damaging 0.47
IGL03166:Fyco1 APN 9 123,657,452 (GRCm39) missense probably benign 0.00
IGL03272:Fyco1 APN 9 123,658,668 (GRCm39) missense probably benign 0.00
BB009:Fyco1 UTSW 9 123,658,055 (GRCm39) missense possibly damaging 0.79
BB019:Fyco1 UTSW 9 123,658,055 (GRCm39) missense possibly damaging 0.79
PIT4480001:Fyco1 UTSW 9 123,657,715 (GRCm39) nonsense probably null
R0013:Fyco1 UTSW 9 123,651,471 (GRCm39) missense probably benign
R0025:Fyco1 UTSW 9 123,658,074 (GRCm39) missense probably damaging 1.00
R0349:Fyco1 UTSW 9 123,626,727 (GRCm39) missense probably damaging 0.98
R0751:Fyco1 UTSW 9 123,648,218 (GRCm39) missense probably damaging 1.00
R1184:Fyco1 UTSW 9 123,648,218 (GRCm39) missense probably damaging 1.00
R1563:Fyco1 UTSW 9 123,656,247 (GRCm39) unclassified probably benign
R1618:Fyco1 UTSW 9 123,658,346 (GRCm39) missense probably damaging 1.00
R1732:Fyco1 UTSW 9 123,648,157 (GRCm39) missense probably benign 0.32
R1873:Fyco1 UTSW 9 123,652,303 (GRCm39) missense probably benign
R1920:Fyco1 UTSW 9 123,659,478 (GRCm39) missense probably damaging 1.00
R2108:Fyco1 UTSW 9 123,626,581 (GRCm39) critical splice donor site probably null
R2849:Fyco1 UTSW 9 123,663,891 (GRCm39) nonsense probably null
R2944:Fyco1 UTSW 9 123,655,713 (GRCm39) missense probably benign 0.02
R4035:Fyco1 UTSW 9 123,630,348 (GRCm39) missense probably benign 0.00
R4120:Fyco1 UTSW 9 123,654,691 (GRCm39) missense probably benign 0.00
R4198:Fyco1 UTSW 9 123,655,699 (GRCm39) missense probably benign
R4534:Fyco1 UTSW 9 123,667,953 (GRCm39) missense probably damaging 1.00
R4535:Fyco1 UTSW 9 123,667,953 (GRCm39) missense probably damaging 1.00
R4536:Fyco1 UTSW 9 123,667,953 (GRCm39) missense probably damaging 1.00
R5408:Fyco1 UTSW 9 123,658,568 (GRCm39) missense probably damaging 0.99
R5522:Fyco1 UTSW 9 123,623,836 (GRCm39) nonsense probably null
R5755:Fyco1 UTSW 9 123,657,773 (GRCm39) missense possibly damaging 0.71
R5781:Fyco1 UTSW 9 123,623,898 (GRCm39) missense probably damaging 1.00
R5813:Fyco1 UTSW 9 123,660,413 (GRCm39) missense probably damaging 1.00
R7090:Fyco1 UTSW 9 123,626,784 (GRCm39) missense probably damaging 0.98
R7205:Fyco1 UTSW 9 123,651,491 (GRCm39) missense probably benign 0.00
R7932:Fyco1 UTSW 9 123,658,055 (GRCm39) missense possibly damaging 0.79
R8086:Fyco1 UTSW 9 123,659,471 (GRCm39) missense probably damaging 1.00
R8103:Fyco1 UTSW 9 123,658,453 (GRCm39) missense probably benign 0.17
R8504:Fyco1 UTSW 9 123,659,142 (GRCm39) missense probably benign 0.08
R8530:Fyco1 UTSW 9 123,669,605 (GRCm39) critical splice donor site probably null
R8822:Fyco1 UTSW 9 123,648,184 (GRCm39) missense probably damaging 1.00
R8899:Fyco1 UTSW 9 123,655,646 (GRCm39) missense probably benign 0.00
R8987:Fyco1 UTSW 9 123,658,139 (GRCm39) missense possibly damaging 0.68
R9227:Fyco1 UTSW 9 123,648,211 (GRCm39) missense probably damaging 1.00
R9239:Fyco1 UTSW 9 123,626,637 (GRCm39) missense probably damaging 1.00
R9294:Fyco1 UTSW 9 123,623,878 (GRCm39) missense probably damaging 1.00
R9347:Fyco1 UTSW 9 123,660,350 (GRCm39) critical splice donor site probably null
R9610:Fyco1 UTSW 9 123,657,585 (GRCm39) missense possibly damaging 0.63
R9611:Fyco1 UTSW 9 123,657,585 (GRCm39) missense possibly damaging 0.63
R9797:Fyco1 UTSW 9 123,626,761 (GRCm39) missense probably benign 0.00
Z1177:Fyco1 UTSW 9 123,657,388 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09