Incidental Mutation 'R8086:Fyco1'
| ID |
629663 |
| 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 |
067519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8086 (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 T
at 123659471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 235
(M235K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000184082]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084715
AA Change: M235K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: M235K
| 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: M235K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: M235K
| 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 |
probably damaging
Transcript: ENSMUST00000184082
AA Change: M235K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241
AA Change: M235K
| 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 |
|
| Meta Mutation Damage Score |
0.1802 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,808 (GRCm39) |
H372L |
|
Het |
| Abcb1a |
A |
T |
5: 8,724,833 (GRCm39) |
T89S |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,774 (GRCm39) |
V146A |
probably benign |
Het |
| App |
T |
C |
16: 84,917,428 (GRCm39) |
Y72C |
unknown |
Het |
| Arhgap20 |
T |
C |
9: 51,760,563 (GRCm39) |
S805P |
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,239,911 (GRCm39) |
R208S |
probably benign |
Het |
| Btnl4 |
A |
C |
17: 34,692,976 (GRCm39) |
|
probably null |
Het |
| Cacng7 |
T |
C |
7: 3,387,518 (GRCm39) |
S134P |
probably benign |
Het |
| Capn9 |
A |
T |
8: 125,334,692 (GRCm39) |
|
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,400,779 (GRCm39) |
M148K |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,285,713 (GRCm39) |
I20V |
possibly damaging |
Het |
| Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Dnah14 |
C |
A |
1: 181,593,797 (GRCm39) |
T3380K |
probably damaging |
Het |
| Dnajc3 |
G |
T |
14: 119,208,192 (GRCm39) |
E276* |
probably null |
Het |
| Dock10 |
C |
A |
1: 80,481,707 (GRCm39) |
C1772F |
probably benign |
Het |
| Fank1 |
A |
T |
7: 133,454,959 (GRCm39) |
E26D |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,813,389 (GRCm39) |
C2308F |
probably damaging |
Het |
| Gm7361 |
C |
T |
5: 26,465,446 (GRCm39) |
R148C |
probably damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,286 (GRCm39) |
R183Q |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,314,252 (GRCm39) |
Y221C |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,728 (GRCm39) |
H322L |
unknown |
Het |
| Il6st |
T |
A |
13: 112,631,094 (GRCm39) |
|
probably null |
Het |
| Impa1 |
T |
C |
3: 10,387,988 (GRCm39) |
K145E |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,679,869 (GRCm39) |
M847L |
probably benign |
Het |
| Itgb6 |
A |
G |
2: 60,480,376 (GRCm39) |
V320A |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,630 (GRCm39) |
H678Q |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,696,091 (GRCm39) |
T311A |
probably benign |
Het |
| Nefl |
T |
C |
14: 68,323,480 (GRCm39) |
Y369H |
probably damaging |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,188 (GRCm39) |
Y2983C |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,130,934 (GRCm39) |
|
probably null |
Het |
| Prr5l |
C |
T |
2: 101,571,709 (GRCm39) |
E123K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,482,500 (GRCm39) |
Y1024* |
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,138,762 (GRCm39) |
L147Q |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,173 (GRCm39) |
R223C |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,305 (GRCm39) |
F357L |
probably damaging |
Het |
| Rnf24 |
A |
G |
2: 131,145,468 (GRCm39) |
V114A |
probably benign |
Het |
| Slc7a1 |
T |
G |
5: 148,288,899 (GRCm39) |
N116T |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,998 (GRCm39) |
C306R |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,686,482 (GRCm39) |
S697P |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,040,738 (GRCm39) |
N935I |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,201,052 (GRCm39) |
P4S |
unknown |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,509 (GRCm39) |
D77E |
possibly damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,250 (GRCm39) |
A55T |
probably damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,876 (GRCm39) |
A359E |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Zbtb25 |
A |
G |
12: 76,395,923 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp180 |
C |
A |
7: 23,805,535 (GRCm39) |
D651E |
probably benign |
Het |
| Zfp979 |
T |
C |
4: 147,698,004 (GRCm39) |
D235G |
probably 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 |
|
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 |
|
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'- TCTGCTACCAGGCTCACAAG -3'
(R):5'- GTTCTGGTCCTTGGACTAGCTC -3'
Sequencing Primer
(F):5'- AAGGCCAATGCTGTCCTC -3'
(R):5'- CCTTGGACTAGCTCTAAAAATTTACC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation