Incidental Mutation 'R4120:Fyco1'
ID 315282
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 040993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4120 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123618565-123680964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123654691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1065 (Y1065C)
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: Y1065C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: Y1065C

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: Y1065C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: Y1065C

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
Meta Mutation Damage Score 0.0653 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (55/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,133,388 (GRCm39) E1233* probably null Het
Afap1l1 T C 18: 61,872,243 (GRCm39) D526G probably damaging Het
Ago4 A G 4: 126,390,600 (GRCm39) Y807H probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap40 A G 2: 158,374,250 (GRCm39) M222V probably benign Het
Asnsd1 A G 1: 53,387,154 (GRCm39) S158P probably damaging Het
Cdh15 T C 8: 123,590,162 (GRCm39) V365A probably damaging Het
Clca3a2 T C 3: 144,516,613 (GRCm39) M328V probably benign Het
Col4a1 G A 8: 11,256,263 (GRCm39) P1535S unknown Het
Dennd2a G A 6: 39,442,030 (GRCm39) R947C probably damaging Het
Dlg2 G A 7: 91,614,846 (GRCm39) V217I probably damaging Het
Dnaaf2 T C 12: 69,244,812 (GRCm39) D83G possibly damaging Het
Dppa5a A T 9: 78,275,137 (GRCm39) M55K possibly damaging Het
Ect2l A G 10: 18,006,466 (GRCm39) V779A probably benign Het
Ehhadh A G 16: 21,581,934 (GRCm39) S353P probably benign Het
Etv3 A G 3: 87,443,589 (GRCm39) D391G probably benign Het
Fastkd1 T A 2: 69,537,654 (GRCm39) K309N probably damaging Het
Fip1l1 T A 5: 74,748,852 (GRCm39) Y375N probably damaging Het
Flvcr2 T C 12: 85,832,903 (GRCm39) S308P probably benign Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Gm17175 A T 14: 51,810,534 (GRCm39) I31N probably damaging Het
Gm6003 T A 7: 32,864,976 (GRCm39) noncoding transcript Het
Gm9951 T C 8: 34,522,993 (GRCm39) noncoding transcript Het
Hspa2 A G 12: 76,452,008 (GRCm39) E234G probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Iqsec1 A T 6: 90,639,584 (GRCm39) Y1065* probably null Het
Ltk T A 2: 119,588,429 (GRCm39) probably benign Het
Map2 G A 1: 66,455,063 (GRCm39) A1318T probably damaging Het
Mas1 A T 17: 13,061,233 (GRCm39) N63K probably damaging Het
Myo15b T C 11: 115,764,318 (GRCm39) S1311P probably benign Het
Nav3 A G 10: 109,739,605 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,133,359 (GRCm39) noncoding transcript Het
Oca2 A T 7: 55,904,630 (GRCm39) D32V probably damaging Het
Or51v8 T C 7: 103,320,221 (GRCm39) T6A probably benign Het
Or8b9 T C 9: 37,766,705 (GRCm39) L197S possibly damaging Het
Otub2 T C 12: 103,370,489 (GRCm39) V257A probably damaging Het
Pink1 G A 4: 138,042,822 (GRCm39) R461* probably null Het
Plxna2 T C 1: 194,462,935 (GRCm39) C901R probably damaging Het
Ptchd3 T A 11: 121,721,572 (GRCm39) N148K probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Ripor1 T A 8: 106,345,489 (GRCm39) probably benign Het
Sec13 T C 6: 113,711,637 (GRCm39) N107S probably damaging Het
Slc12a2 A G 18: 58,032,427 (GRCm39) M376V possibly damaging Het
Sp140l2 C T 1: 85,237,542 (GRCm39) V81M possibly damaging Het
Sptbn5 T A 2: 119,895,010 (GRCm39) D798V possibly damaging Het
Stradb T A 1: 59,019,168 (GRCm39) Y30N possibly damaging Het
Syne1 T A 10: 5,359,798 (GRCm39) Q328L probably damaging Het
Ttc23l A C 15: 10,540,006 (GRCm39) V159G probably damaging Het
Vmn2r100 T C 17: 19,752,215 (GRCm39) S753P probably damaging Het
Vmn2r129 G T 4: 156,686,778 (GRCm39) noncoding transcript Het
Vmn2r39 G A 7: 9,026,673 (GRCm39) H443Y probably benign Het
Zfp936 A G 7: 42,839,630 (GRCm39) T366A probably benign Het
Zkscan3 T C 13: 21,578,119 (GRCm39) E256G possibly 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
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
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'- AGAAGGGCCCATTTCCACTG -3'
(R):5'- TCACGGTAAGCAGATCGTG -3'

Sequencing Primer
(F):5'- AGGGCCCATTTCCACTGAACTG -3'
(R):5'- GATCGTGCCTCACCAAGAG -3'
Posted On 2015-05-14