Incidental Mutation 'R5522:Fyco1'
| ID |
431623 |
| 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 |
043081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5522 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 123623836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1398
(R1398*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084715
AA Change: R1398*
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: R1398*
| 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 null
Transcript: ENSMUST00000167595
AA Change: R1398*
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: R1398*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214413
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 93.9%
- 20x: 85.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,649,704 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,731,671 (GRCm39) |
|
probably null |
Het |
| Cd69 |
A |
T |
6: 129,248,379 (GRCm39) |
S36T |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,449,005 (GRCm39) |
I124L |
probably benign |
Het |
| Cerkl |
T |
C |
2: 79,223,328 (GRCm39) |
H131R |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,453,085 (GRCm39) |
N539K |
probably benign |
Het |
| Cyp4x1 |
C |
A |
4: 114,979,174 (GRCm39) |
W141L |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,993 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
G |
A |
2: 130,656,222 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,296,954 (GRCm39) |
I5781T |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,867 (GRCm39) |
V101E |
probably damaging |
Het |
| Exph5 |
T |
C |
9: 53,285,613 (GRCm39) |
F898S |
possibly damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,886,746 (GRCm39) |
I508V |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,833,258 (GRCm39) |
Q473K |
probably damaging |
Het |
| Ighv1-66 |
T |
A |
12: 115,556,755 (GRCm39) |
D109V |
probably damaging |
Het |
| Ipmk |
C |
A |
10: 71,199,304 (GRCm39) |
T55K |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,087,225 (GRCm39) |
Y192H |
probably damaging |
Het |
| Krt32 |
A |
T |
11: 99,977,497 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,620 (GRCm39) |
L178Q |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,122,211 (GRCm39) |
K320N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,685,783 (GRCm39) |
L858S |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,464,353 (GRCm39) |
F198Y |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfatc1 |
T |
C |
18: 80,696,744 (GRCm39) |
T647A |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,326,453 (GRCm39) |
Y433H |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,061,972 (GRCm39) |
V717A |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,484 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,268 (GRCm39) |
L73F |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,798 (GRCm39) |
D16V |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,811,520 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,402 (GRCm39) |
I108V |
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,710,584 (GRCm39) |
T6S |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,298 (GRCm39) |
V317E |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,708,195 (GRCm39) |
Y406* |
probably null |
Het |
| Scamp3 |
T |
C |
3: 89,084,929 (GRCm39) |
F11L |
possibly damaging |
Het |
| Sctr |
A |
G |
1: 119,964,146 (GRCm39) |
N142S |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,349 (GRCm39) |
S128P |
probably benign |
Het |
| Snrnp70 |
C |
T |
7: 45,026,601 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,945,816 (GRCm39) |
K596R |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,422,230 (GRCm39) |
|
probably null |
Het |
| Taok3 |
A |
G |
5: 117,411,822 (GRCm39) |
T414A |
probably benign |
Het |
| Tmem104 |
G |
A |
11: 115,079,149 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
T |
A |
8: 112,645,042 (GRCm39) |
S155C |
possibly damaging |
Het |
| Tssk3 |
G |
A |
4: 129,383,343 (GRCm39) |
R110W |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,759 (GRCm39) |
T485A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,613,974 (GRCm39) |
K292E |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,845,497 (GRCm39) |
|
probably null |
Het |
| Usp24 |
T |
A |
4: 106,229,918 (GRCm39) |
V797E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,929 (GRCm39) |
T1872A |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,120 (GRCm39) |
M197V |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,661,718 (GRCm39) |
D578E |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,909,090 (GRCm39) |
Y810* |
probably null |
Het |
| Zcchc2 |
A |
G |
1: 105,951,426 (GRCm39) |
N587S |
probably benign |
Het |
| Zfp189 |
C |
T |
4: 49,529,739 (GRCm39) |
R281* |
probably null |
Het |
| Zranb1 |
T |
C |
7: 132,585,678 (GRCm39) |
*735R |
probably null |
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 |
|
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'- TACCATGAGCAGTGAATAGAGC -3'
(R):5'- CAAGTTCTAGTCCCAGCCCTATAC -3'
Sequencing Primer
(F):5'- CAGAGGGGTCTAAATTACAGAATCAC -3'
(R):5'- CAGCTATGACGTCATTCAGAGTACTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation