Incidental Mutation 'PIT4480001:Fyco1'
| ID |
554869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyco1
|
| Ensembl Gene |
ENSMUSG00000025241 |
| Gene Name |
FYVE and coiled-coil domain containing 1 |
| Synonyms |
ZFYVE7, 2810409M01Rik, Mem2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4480001 (G1)
|
| Quality Score |
121.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 123657715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 820
(Y820*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000184082]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084715
AA Change: Y820*
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: Y820*
| 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 null
Transcript: ENSMUST00000167595
AA Change: Y820*
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: Y820*
| 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 null
Transcript: ENSMUST00000184082
AA Change: Y820*
|
| SMART Domains |
Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241
AA Change: Y820*
| 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: 93.3%
- 3x: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
G |
A |
19: 4,917,605 (GRCm39) |
Q413* |
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,740,358 (GRCm39) |
S1238N |
possibly damaging |
Het |
| Arsk |
T |
C |
13: 76,210,484 (GRCm39) |
E521G |
probably damaging |
Het |
| Baiap2 |
A |
G |
11: 119,887,913 (GRCm39) |
T356A |
probably benign |
Het |
| Baz1b |
G |
A |
5: 135,246,819 (GRCm39) |
R756H |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,916,615 (GRCm39) |
P453S |
probably damaging |
Het |
| Cep41 |
G |
A |
6: 30,658,412 (GRCm39) |
P196S |
probably damaging |
Het |
| Cln5 |
T |
A |
14: 103,309,214 (GRCm39) |
Y89* |
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,905,024 (GRCm39) |
F919S |
probably damaging |
Het |
| Cntrl |
C |
T |
2: 35,045,440 (GRCm39) |
H1383Y |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,592 (GRCm39) |
S1037P |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,659,813 (GRCm39) |
S380T |
probably benign |
Het |
| Cyrib |
G |
A |
15: 63,828,490 (GRCm39) |
T11I |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,238,022 (GRCm39) |
S323T |
probably benign |
Het |
| Dicer1 |
G |
T |
12: 104,662,803 (GRCm39) |
Q1593K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,078,863 (GRCm39) |
I2367V |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,086,588 (GRCm39) |
S184P |
possibly damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,114,702 (GRCm39) |
M914K |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,068,784 (GRCm39) |
E37G |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,896,859 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,536,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Gpn1 |
T |
C |
5: 31,654,685 (GRCm39) |
V79A |
probably damaging |
Het |
| Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
| Inpp4b |
A |
C |
8: 82,772,896 (GRCm39) |
E730A |
probably damaging |
Het |
| Inpp5f |
C |
T |
7: 128,286,858 (GRCm39) |
T579I |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,840,608 (GRCm39) |
M1201L |
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,801,254 (GRCm39) |
N631S |
possibly damaging |
Het |
| Mdh1 |
G |
A |
11: 21,508,538 (GRCm39) |
S268L |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,103 (GRCm39) |
T314S |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,731 (GRCm39) |
Q233R |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,372 (GRCm39) |
F124L |
probably benign |
Het |
| Or5w17 |
T |
C |
2: 87,584,127 (GRCm39) |
D70G |
possibly damaging |
Het |
| Paqr5 |
T |
A |
9: 61,863,438 (GRCm39) |
I295L |
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,756,560 (GRCm39) |
H379Y |
unknown |
Het |
| Phtf2 |
A |
T |
5: 21,018,242 (GRCm39) |
I33N |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,553,977 (GRCm39) |
M115V |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,003,576 (GRCm39) |
Y431H |
possibly damaging |
Het |
| Prph2 |
GT |
G |
17: 47,222,039 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
C |
T |
1: 86,055,960 (GRCm39) |
P774L |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,247,340 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,304,977 (GRCm39) |
D770G |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,087 (GRCm39) |
L439P |
probably damaging |
Het |
| Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,987,257 (GRCm39) |
|
probably null |
Het |
| Sox6 |
T |
C |
7: 115,196,744 (GRCm39) |
I295M |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,586 (GRCm39) |
M4475V |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,929,637 (GRCm39) |
D301E |
probably benign |
Het |
| Tas2r117 |
G |
A |
6: 132,780,014 (GRCm39) |
V51I |
possibly damaging |
Het |
| Tbx2 |
C |
T |
11: 85,725,561 (GRCm39) |
R171C |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm39) |
I320V |
probably benign |
Het |
| Tjp3 |
C |
A |
10: 81,115,091 (GRCm39) |
G396W |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,460 (GRCm39) |
N4D |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,071 (GRCm39) |
N165D |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,802 (GRCm39) |
Y138F |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,632,817 (GRCm39) |
S267P |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,940,328 (GRCm39) |
L803* |
probably null |
Het |
| Zbbx |
T |
A |
3: 75,043,794 (GRCm39) |
D35V |
probably damaging |
Het |
| Zscan12 |
T |
G |
13: 21,552,744 (GRCm39) |
N189K |
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 |
|
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 |
|
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'- CGATCCTTCTCAGCTGTCAG -3'
(R):5'- TTACAGAATGAGGTGGTGGACC -3'
Sequencing Primer
(F):5'- TGTCAGTGCACAGACCTGTATAC -3'
(R):5'- TGGCCCTAGGTGATCGAGAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation