Incidental Mutation 'R2944:Fyco1'
ID 264629
Institutional Source Beutler Lab
Gene Symbol Fyco1
Ensembl Gene ENSMUSG00000025241
Gene Name FYVE and coiled-coil domain containing 1
Synonyms ZFYVE7, 2810409M01Rik, Mem2
MMRRC Submission 040518-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2944 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 123618565-123680964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123655713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1015 (M1015K)
Ref Sequence ENSEMBL: ENSMUSP00000133222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000184082]
AlphaFold Q8VDC1
Predicted Effect probably benign
Transcript: ENSMUST00000084715
AA Change: M1015K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: M1015K

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
AA Change: M1015K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: M1015K

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T C 7: 133,577,236 (GRCm39) M179V probably null Het
Alms1 C T 6: 85,605,373 (GRCm39) T2341I probably damaging Het
Bpnt1 A G 1: 185,084,406 (GRCm39) T168A probably damaging Het
Cdcp2 A C 4: 106,959,755 (GRCm39) S57R possibly damaging Het
Cmya5 T A 13: 93,229,350 (GRCm39) K1913* probably null Het
Coro1c C G 5: 113,988,861 (GRCm39) G161R probably damaging Het
Csnk1a1 T C 18: 61,711,760 (GRCm39) M258T probably benign Het
Dnah3 A G 7: 119,550,333 (GRCm39) C3318R probably damaging Het
Hfm1 A G 5: 107,020,196 (GRCm39) S290P probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lce1i G A 3: 92,685,063 (GRCm39) P38S unknown Het
Nup210l T A 3: 90,088,852 (GRCm39) S1156T probably damaging Het
Or8g35 A T 9: 39,381,234 (GRCm39) S263T possibly damaging Het
Sec14l5 T A 16: 4,998,697 (GRCm39) I579N probably benign Het
Semp2l2a A T 8: 13,887,212 (GRCm39) L293Q probably damaging Het
Sh3tc1 C A 5: 35,871,504 (GRCm39) V107L probably damaging Het
Tmprss11a T G 5: 86,576,511 (GRCm39) R113S probably benign Het
Trmt10b A G 4: 45,300,445 (GRCm39) M1V probably null Het
Ush1c T C 7: 45,850,406 (GRCm39) E791G probably damaging Het
Uspl1 T C 5: 149,138,606 (GRCm39) L328P probably damaging Het
Utrn G T 10: 12,519,163 (GRCm39) T2263K 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
IGL01621:Fyco1 APN 9 123,656,247 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACTTCCTCATCTAGTACAAGTGGC -3'
(R):5'- GTAACCACATTCCGTGCCAC -3'

Sequencing Primer
(F):5'- CATCTAGTACAAGTGGCTGATTTTC -3'
(R):5'- GCCACCTGCACTCCAGC -3'
Posted On 2015-02-05