Incidental Mutation 'R9610:Fyco1'
| ID |
724156 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9610 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123657585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 864
(T864A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000184082]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084715
AA Change: T864A
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: T864A
| 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 |
possibly damaging
Transcript: ENSMUST00000167595
AA Change: T864A
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: T864A
| 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 |
possibly damaging
Transcript: ENSMUST00000184082
AA Change: T864A
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241
AA Change: T864A
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,023,399 (GRCm39) |
T265S |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,257,890 (GRCm39) |
I1311M |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,743 (GRCm39) |
Y750N |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,745 (GRCm39) |
Y750* |
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,407,595 (GRCm39) |
M295K |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,427,316 (GRCm39) |
L1007P |
possibly damaging |
Het |
| Cnep1r1 |
A |
G |
8: 88,860,457 (GRCm39) |
*126W |
probably null |
Het |
| Cstf1 |
T |
A |
2: 172,214,984 (GRCm39) |
I35N |
probably benign |
Het |
| Cstpp1 |
T |
C |
2: 91,135,127 (GRCm39) |
D111G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,830,823 (GRCm39) |
L1690P |
possibly damaging |
Het |
| Dnm2 |
A |
T |
9: 21,414,973 (GRCm39) |
K677* |
probably null |
Het |
| Dscaml1 |
C |
A |
9: 45,579,522 (GRCm39) |
N356K |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,346,008 (GRCm39) |
D446G |
probably damaging |
Het |
| Ecm2 |
A |
G |
13: 49,668,518 (GRCm39) |
N74D |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,681,216 (GRCm39) |
I450M |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,091,035 (GRCm39) |
D460E |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,824,258 (GRCm39) |
Y493C |
probably benign |
Het |
| Fuom |
T |
A |
7: 139,679,828 (GRCm39) |
E121V |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,817,218 (GRCm39) |
Y336H |
probably damaging |
Het |
| Gcsh |
T |
A |
8: 117,720,125 (GRCm39) |
Y14F |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,194,605 (GRCm39) |
I937M |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,600 (GRCm39) |
I370M |
possibly damaging |
Het |
| Hypk |
T |
C |
2: 121,288,154 (GRCm39) |
S72P |
probably damaging |
Het |
| Izumo1r |
T |
G |
9: 14,811,840 (GRCm39) |
I183L |
possibly damaging |
Het |
| Kctd13 |
G |
T |
7: 126,544,180 (GRCm39) |
G293C |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,012,318 (GRCm39) |
S2G |
probably benign |
Het |
| Mark4 |
C |
A |
7: 19,167,338 (GRCm39) |
R467L |
possibly damaging |
Het |
| Mrps33 |
T |
A |
6: 39,779,422 (GRCm39) |
K91M |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,350,078 (GRCm39) |
V608D |
possibly damaging |
Het |
| Myb |
G |
A |
10: 21,030,627 (GRCm39) |
Q57* |
probably null |
Het |
| Or51f1 |
T |
G |
7: 102,506,147 (GRCm39) |
H114P |
probably damaging |
Het |
| Peg10 |
GCAC |
GCACCAC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
| Pip4k2c |
A |
C |
10: 127,036,069 (GRCm39) |
L266R |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,609,213 (GRCm39) |
Y173H |
probably benign |
Het |
| Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
| Ppp1r16b |
T |
A |
2: 158,537,998 (GRCm39) |
Y40N |
probably damaging |
Het |
| Prl5a1 |
A |
G |
13: 28,329,492 (GRCm39) |
E57G |
possibly damaging |
Het |
| Psmb10 |
A |
G |
8: 106,664,144 (GRCm39) |
F75S |
probably benign |
Het |
| Ptprm |
C |
A |
17: 67,000,483 (GRCm39) |
R1167M |
probably damaging |
Het |
| Rbm46 |
T |
C |
3: 82,771,541 (GRCm39) |
H358R |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,397,115 (GRCm39) |
S684P |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,517,869 (GRCm39) |
I162V |
probably damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,529 (GRCm39) |
V440A |
possibly damaging |
Het |
| Sik1 |
T |
A |
17: 32,073,246 (GRCm39) |
K70M |
probably damaging |
Het |
| Slc44a4 |
C |
T |
17: 35,147,793 (GRCm39) |
S611F |
probably benign |
Het |
| Stk32a |
A |
G |
18: 43,430,620 (GRCm39) |
I177V |
probably benign |
Het |
| Syt7 |
G |
A |
19: 10,421,459 (GRCm39) |
D548N |
probably benign |
Het |
| Tcf7l2 |
A |
G |
19: 55,899,038 (GRCm39) |
D215G |
probably null |
Het |
| Tex14 |
T |
A |
11: 87,377,084 (GRCm39) |
F143I |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,119,411 (GRCm39) |
V26A |
possibly damaging |
Het |
| Tpx2 |
T |
A |
2: 152,715,124 (GRCm39) |
V115D |
probably benign |
Het |
| Tubb2b |
C |
A |
13: 34,311,742 (GRCm39) |
K350N |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,036,936 (GRCm39) |
V472A |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,642,555 (GRCm39) |
G1389V |
possibly damaging |
Het |
| Vps39 |
T |
C |
2: 120,172,485 (GRCm39) |
R183G |
probably damaging |
Het |
| Wnk4 |
G |
T |
11: 101,159,250 (GRCm39) |
E556* |
probably null |
Het |
| Xpo7 |
T |
A |
14: 70,925,617 (GRCm39) |
E474V |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,275,341 (GRCm39) |
R234G |
probably null |
Het |
| Zc3h14 |
T |
A |
12: 98,737,663 (GRCm39) |
I50N |
possibly damaging |
Het |
| Zfat |
A |
G |
15: 68,051,655 (GRCm39) |
V713A |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,009,545 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,651,022 (GRCm39) |
V502A |
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 |
|
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 |
|
|
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'- GAGAATGAACTGGCTGCCTC -3'
(R):5'- TTCAGGAGCTGCTTCAGTGC -3'
Sequencing Primer
(F):5'- AATGAACTGGCTGCCTCCTCAG -3'
(R):5'- AGCTGCTTCAGTGCTCAGAGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation