Incidental Mutation 'R9797:Fyco1'
| ID |
735004 |
| 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 # |
R9797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123626761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1317
(A1317S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084715
AA Change: A1317S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: A1317S
| 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 benign
Transcript: ENSMUST00000167595
AA Change: A1317S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: A1317S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| 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 |
|---|
| Actr3b |
A |
G |
5: 26,054,895 (GRCm39) |
Y403C |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,066,562 (GRCm39) |
I600V |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,842 (GRCm39) |
S468P |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,133,491 (GRCm39) |
T432A |
probably benign |
Het |
| B3glct |
A |
T |
5: 149,650,304 (GRCm39) |
T136S |
probably benign |
Het |
| Bahcc1 |
A |
T |
11: 120,159,147 (GRCm39) |
R125* |
probably null |
Het |
| Brat1 |
A |
G |
5: 140,704,273 (GRCm39) |
E842G |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,508,287 (GRCm39) |
L1830S |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,579,217 (GRCm39) |
N620D |
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,803,462 (GRCm39) |
D538V |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,514,402 (GRCm39) |
C546Y |
|
Het |
| Colq |
T |
A |
14: 31,250,777 (GRCm39) |
R343* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,358,187 (GRCm39) |
K330R |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,233,316 (GRCm39) |
K225R |
probably benign |
Het |
| Dnase1l3 |
C |
T |
14: 7,984,127 (GRCm38) |
S95N |
probably damaging |
Het |
| Gm9195 |
G |
A |
14: 72,687,705 (GRCm39) |
P1944L |
probably damaging |
Het |
| Gse1 |
T |
G |
8: 121,215,864 (GRCm39) |
L4R |
probably damaging |
Het |
| Gstm1 |
T |
C |
3: 107,925,080 (GRCm39) |
I4M |
probably benign |
Het |
| Ighv2-3 |
A |
T |
12: 113,574,945 (GRCm39) |
I70K |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,645,069 (GRCm39) |
R414H |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,696 (GRCm39) |
E183G |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,880,144 (GRCm39) |
S1079P |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,545,591 (GRCm39) |
I125V |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,494,962 (GRCm39) |
V418E |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,725 (GRCm39) |
T517A |
probably damaging |
Het |
| Mx1 |
A |
G |
16: 97,252,893 (GRCm39) |
V409A |
probably benign |
Het |
| Olfml1 |
C |
A |
7: 107,167,069 (GRCm39) |
H33N |
probably benign |
Het |
| Or13p8 |
A |
C |
4: 118,584,079 (GRCm39) |
I212L |
probably benign |
Het |
| Or4k15b |
A |
T |
14: 50,272,224 (GRCm39) |
V212D |
probably benign |
Het |
| Or5w19 |
A |
T |
2: 87,698,478 (GRCm39) |
I48F |
possibly damaging |
Het |
| Or6k2 |
T |
C |
1: 173,986,417 (GRCm39) |
I26T |
probably benign |
Het |
| Or6n1 |
T |
A |
1: 173,917,356 (GRCm39) |
I250N |
possibly damaging |
Het |
| Parp12 |
C |
A |
6: 39,067,185 (GRCm39) |
V536F |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,514,862 (GRCm39) |
E273G |
possibly damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,818 (GRCm39) |
T468A |
possibly damaging |
Het |
| Psd3 |
A |
G |
8: 68,210,778 (GRCm39) |
Y743H |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,333,365 (GRCm39) |
I2859N |
|
Het |
| Sec23a |
A |
T |
12: 59,052,060 (GRCm39) |
C88* |
probably null |
Het |
| Sepsecs |
A |
G |
5: 52,826,239 (GRCm39) |
|
probably null |
Het |
| Slc35e3 |
G |
A |
10: 117,572,016 (GRCm39) |
T293I |
probably benign |
Het |
| Slc49a3 |
G |
T |
5: 108,593,403 (GRCm39) |
T145N |
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,739,538 (GRCm39) |
I424T |
possibly damaging |
Het |
| Spata16 |
T |
A |
3: 26,968,925 (GRCm39) |
I435N |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,838,015 (GRCm39) |
S156P |
probably benign |
Het |
| Tmem237 |
A |
C |
1: 59,144,735 (GRCm39) |
S398A |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,828,542 (GRCm39) |
L234Q |
probably damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,851,426 (GRCm39) |
T22K |
probably benign |
Het |
| Uts2r |
C |
A |
11: 121,051,518 (GRCm39) |
S127R |
probably damaging |
Het |
| Vmn1r236 |
A |
G |
17: 21,506,969 (GRCm39) |
D29G |
probably benign |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,138 (GRCm39) |
I700T |
probably damaging |
Het |
| Vmn2r87 |
T |
A |
10: 130,312,064 (GRCm39) |
T517S |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,675,022 (GRCm39) |
V1714E |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,758,950 (GRCm39) |
I1003L |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,077,109 (GRCm39) |
D1278G |
possibly damaging |
Het |
| Zfp1006 |
T |
A |
8: 129,946,534 (GRCm39) |
H97L |
probably benign |
Het |
| Zfp955a |
A |
C |
17: 33,461,888 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,293,006 (GRCm39) |
T2048A |
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 |
|
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 |
|
Z1177:Fyco1
|
UTSW |
9 |
123,657,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGTAATCAAGCTTTAGGTGC -3'
(R):5'- CAGCCTTGATTCAGTGTCAGG -3'
Sequencing Primer
(F):5'- AAGTTAGGGAGCCTGGCCTAC -3'
(R):5'- CCTTGATTCAGTGTCAGGAACTATGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation