Incidental Mutation 'R5781:Fyco1'
| ID |
500085 |
| 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 |
043378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5781 (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 G
at 123623898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1377
(V1377A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084715
AA Change: V1377A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: V1377A
| 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: V1377A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: V1377A
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
| Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,584 (GRCm39) |
I56T |
possibly damaging |
Het |
| Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
| Arhgap10 |
G |
T |
8: 78,177,336 (GRCm39) |
Q100K |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,564,377 (GRCm39) |
H277L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
| Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
| Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
| Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
| Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
| Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
| Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
| Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
| Rfwd3 |
G |
A |
8: 111,999,716 (GRCm39) |
T754M |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
| Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
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 |
|
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'- AACGATGCATAGTCAGGTGG -3'
(R):5'- GCTTGACACCAACATAGTCAGGG -3'
Sequencing Primer
(F):5'- TCAGGTGGACACATGATAGACAG -3'
(R):5'- TGGTGACTAGTTCATGACTCAAG -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation