Incidental Mutation 'R7090:Fyco1'
| ID |
550161 |
| 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 |
045184-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7090 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123626784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 1309
(L1309S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084715
AA Change: L1309S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: L1309S
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000167595
AA Change: L1309S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: L1309S
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calm3 |
A |
T |
7: 16,651,004 (GRCm39) |
Y139* |
probably null |
Het |
| Ccdc27 |
T |
C |
4: 154,112,523 (GRCm39) |
N584S |
probably benign |
Het |
| Cdh24 |
C |
G |
14: 54,876,964 (GRCm39) |
G13A |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,452,677 (GRCm39) |
K1281E |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,409,816 (GRCm39) |
G4C |
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,811,765 (GRCm39) |
P2488T |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,789,973 (GRCm39) |
V428A |
probably damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,016,535 (GRCm39) |
S441G |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,255,581 (GRCm39) |
T2426A |
probably benign |
Het |
| Dnai3 |
C |
A |
3: 145,746,582 (GRCm39) |
K881N |
possibly damaging |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,217,219 (GRCm39) |
D112G |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,714,800 (GRCm39) |
S120P |
unknown |
Het |
| Gm14403 |
A |
G |
2: 177,201,114 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm5901 |
A |
G |
7: 105,026,555 (GRCm39) |
T108A |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
| Kcnk15 |
T |
C |
2: 163,700,637 (GRCm39) |
V292A |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,369,169 (GRCm39) |
Y1149N |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,572,529 (GRCm39) |
T1011A |
possibly damaging |
Het |
| Krt35 |
A |
T |
11: 99,986,498 (GRCm39) |
|
probably null |
Het |
| Lipn |
T |
A |
19: 34,049,180 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lpin3 |
T |
G |
2: 160,738,672 (GRCm39) |
L208R |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,855,048 (GRCm39) |
Q354K |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,929,566 (GRCm39) |
C1680F |
possibly damaging |
Het |
| Mtss2 |
T |
A |
8: 111,456,656 (GRCm39) |
V242E |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,131,765 (GRCm39) |
Y477C |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,981,350 (GRCm39) |
S481T |
probably benign |
Het |
| Ncoa2 |
A |
G |
1: 13,257,062 (GRCm39) |
Y146H |
probably damaging |
Het |
| Ntng1 |
A |
T |
3: 109,842,496 (GRCm39) |
C92* |
probably null |
Het |
| Or10ad1b |
C |
T |
15: 98,125,083 (GRCm39) |
V150I |
probably benign |
Het |
| Or2n1b |
G |
A |
17: 38,460,385 (GRCm39) |
G302D |
probably benign |
Het |
| Or8k18 |
T |
A |
2: 86,085,420 (GRCm39) |
N206Y |
probably damaging |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,471 (GRCm39) |
I17V |
probably benign |
Het |
| Os9 |
A |
T |
10: 126,935,547 (GRCm39) |
S308T |
probably benign |
Het |
| Otx2 |
T |
A |
14: 48,896,192 (GRCm39) |
T289S |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,648,042 (GRCm39) |
A60V |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,378 (GRCm39) |
T675A |
possibly damaging |
Het |
| Pink1 |
C |
T |
4: 138,042,912 (GRCm39) |
E461K |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,967,809 (GRCm39) |
S543P |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,611 (GRCm39) |
T454A |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rab31 |
C |
T |
17: 66,005,012 (GRCm39) |
V83I |
possibly damaging |
Het |
| Rabggtb |
G |
T |
3: 153,615,986 (GRCm39) |
D117E |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 156,994,820 (GRCm39) |
H951R |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,091 (GRCm39) |
S314G |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,475,264 (GRCm39) |
L164P |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,760 (GRCm39) |
E541G |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,565,460 (GRCm39) |
G208* |
probably null |
Het |
| Smco2 |
A |
G |
6: 146,772,711 (GRCm39) |
I304M |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,818,491 (GRCm39) |
|
probably null |
Het |
| Spocd1 |
T |
C |
4: 129,847,691 (GRCm39) |
F552L |
|
Het |
| St6galnac2 |
T |
C |
11: 116,568,461 (GRCm39) |
D334G |
probably damaging |
Het |
| Sub1 |
A |
G |
15: 11,986,572 (GRCm39) |
S92P |
probably benign |
Het |
| Syne2 |
T |
C |
12: 75,989,125 (GRCm39) |
F1829L |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,839,833 (GRCm39) |
V631A |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,958,904 (GRCm39) |
S113P |
probably benign |
Het |
| Tgfbrap1 |
A |
C |
1: 43,110,725 (GRCm39) |
V260G |
probably damaging |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,338 (GRCm39) |
V1015A |
probably benign |
Het |
| Usp5 |
A |
G |
6: 124,806,357 (GRCm39) |
M1T |
probably null |
Het |
| Utrn |
T |
C |
10: 12,560,260 (GRCm39) |
D1343G |
possibly damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,254 (GRCm39) |
Y328C |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,972 (GRCm39) |
E564V |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,777,241 (GRCm39) |
T133A |
possibly damaging |
Het |
|
| Other mutations in Fyco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TGTCTTCTGTCTCTTGGAAGAC -3'
(R):5'- GCAAGGCTGTCCTGTATCTTTC -3'
Sequencing Primer
(F):5'- TGTCTCTTGGAAGACCACACTGAAG -3'
(R):5'- CAGCCTTGATTCAGTGTCAGGAAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation