Incidental Mutation 'R4120:Fyco1'
ID |
315282 |
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 |
040993-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4120 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123654691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1065
(Y1065C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000184082]
|
AlphaFold |
Q8VDC1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084715
AA Change: Y1065C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000081764 Gene: ENSMUSG00000025241 AA Change: Y1065C
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: Y1065C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133222 Gene: ENSMUSG00000025241 AA Change: Y1065C
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 benign
Transcript: ENSMUST00000184082
|
SMART Domains |
Protein: ENSMUSP00000139343 Gene: ENSMUSG00000025241
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 |
0.0653 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
93% (55/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
A |
1: 25,133,388 (GRCm39) |
E1233* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,872,243 (GRCm39) |
D526G |
probably damaging |
Het |
Ago4 |
A |
G |
4: 126,390,600 (GRCm39) |
Y807H |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Arhgap40 |
A |
G |
2: 158,374,250 (GRCm39) |
M222V |
probably benign |
Het |
Asnsd1 |
A |
G |
1: 53,387,154 (GRCm39) |
S158P |
probably damaging |
Het |
Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,256,263 (GRCm39) |
P1535S |
unknown |
Het |
Dennd2a |
G |
A |
6: 39,442,030 (GRCm39) |
R947C |
probably damaging |
Het |
Dlg2 |
G |
A |
7: 91,614,846 (GRCm39) |
V217I |
probably damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,244,812 (GRCm39) |
D83G |
possibly damaging |
Het |
Dppa5a |
A |
T |
9: 78,275,137 (GRCm39) |
M55K |
possibly damaging |
Het |
Ect2l |
A |
G |
10: 18,006,466 (GRCm39) |
V779A |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,581,934 (GRCm39) |
S353P |
probably benign |
Het |
Etv3 |
A |
G |
3: 87,443,589 (GRCm39) |
D391G |
probably benign |
Het |
Fastkd1 |
T |
A |
2: 69,537,654 (GRCm39) |
K309N |
probably damaging |
Het |
Fip1l1 |
T |
A |
5: 74,748,852 (GRCm39) |
Y375N |
probably damaging |
Het |
Flvcr2 |
T |
C |
12: 85,832,903 (GRCm39) |
S308P |
probably benign |
Het |
Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
Gm17175 |
A |
T |
14: 51,810,534 (GRCm39) |
I31N |
probably damaging |
Het |
Gm6003 |
T |
A |
7: 32,864,976 (GRCm39) |
|
noncoding transcript |
Het |
Gm9951 |
T |
C |
8: 34,522,993 (GRCm39) |
|
noncoding transcript |
Het |
Hspa2 |
A |
G |
12: 76,452,008 (GRCm39) |
E234G |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,639,584 (GRCm39) |
Y1065* |
probably null |
Het |
Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
Map2 |
G |
A |
1: 66,455,063 (GRCm39) |
A1318T |
probably damaging |
Het |
Mas1 |
A |
T |
17: 13,061,233 (GRCm39) |
N63K |
probably damaging |
Het |
Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,739,605 (GRCm39) |
|
probably null |
Het |
Nlrp1c-ps |
T |
C |
11: 71,133,359 (GRCm39) |
|
noncoding transcript |
Het |
Oca2 |
A |
T |
7: 55,904,630 (GRCm39) |
D32V |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,320,221 (GRCm39) |
T6A |
probably benign |
Het |
Or8b9 |
T |
C |
9: 37,766,705 (GRCm39) |
L197S |
possibly damaging |
Het |
Otub2 |
T |
C |
12: 103,370,489 (GRCm39) |
V257A |
probably damaging |
Het |
Pink1 |
G |
A |
4: 138,042,822 (GRCm39) |
R461* |
probably null |
Het |
Plxna2 |
T |
C |
1: 194,462,935 (GRCm39) |
C901R |
probably damaging |
Het |
Ptchd3 |
T |
A |
11: 121,721,572 (GRCm39) |
N148K |
probably damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
Sec13 |
T |
C |
6: 113,711,637 (GRCm39) |
N107S |
probably damaging |
Het |
Slc12a2 |
A |
G |
18: 58,032,427 (GRCm39) |
M376V |
possibly damaging |
Het |
Sp140l2 |
C |
T |
1: 85,237,542 (GRCm39) |
V81M |
possibly damaging |
Het |
Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
Stradb |
T |
A |
1: 59,019,168 (GRCm39) |
Y30N |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,359,798 (GRCm39) |
Q328L |
probably damaging |
Het |
Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
Vmn2r100 |
T |
C |
17: 19,752,215 (GRCm39) |
S753P |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,778 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,630 (GRCm39) |
T366A |
probably benign |
Het |
Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
possibly 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 |
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 |
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'- AGAAGGGCCCATTTCCACTG -3'
(R):5'- TCACGGTAAGCAGATCGTG -3'
Sequencing Primer
(F):5'- AGGGCCCATTTCCACTGAACTG -3'
(R):5'- GATCGTGCCTCACCAAGAG -3'
|
Posted On |
2015-05-14 |