Incidental Mutation 'R2849:Fyco1'
| ID |
251981 |
| 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 |
040442-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2849 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123618565-123680964 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 123663891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 121
(L121*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000184082]
|
| AlphaFold |
Q8VDC1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084715
AA Change: L121*
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: L121*
| 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: L121*
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: L121*
| 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 |
noncoding transcript
Transcript: ENSMUST00000183700
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184082
AA Change: L121*
|
| SMART Domains |
Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241
AA Change: L121*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216136
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,054,021 (GRCm39) |
I1017V |
probably benign |
Het |
| Agpat2 |
A |
G |
2: 26,487,251 (GRCm39) |
I109T |
probably damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,180,197 (GRCm39) |
R97H |
probably damaging |
Het |
| Als2 |
G |
A |
1: 59,245,697 (GRCm39) |
T593M |
probably damaging |
Het |
| Ap3d1 |
G |
C |
10: 80,577,742 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
| Begain |
T |
A |
12: 108,999,044 (GRCm39) |
M576L |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,995,419 (GRCm39) |
N109S |
probably damaging |
Het |
| Boll |
A |
G |
1: 55,385,532 (GRCm39) |
M131T |
possibly damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,770 (GRCm39) |
F330L |
probably benign |
Het |
| Chst13 |
T |
C |
6: 90,286,140 (GRCm39) |
D274G |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,429,182 (GRCm39) |
T156A |
probably benign |
Het |
| Cstdc5 |
T |
A |
16: 36,187,814 (GRCm39) |
Q17L |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,700,530 (GRCm39) |
V649A |
probably damaging |
Het |
| Deaf1 |
T |
C |
7: 140,894,367 (GRCm39) |
*54W |
probably null |
Het |
| Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
C |
T |
15: 58,071,368 (GRCm39) |
S71N |
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,927,821 (GRCm39) |
N700K |
probably damaging |
Het |
| Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,387,861 (GRCm39) |
T946I |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
| Josd2 |
A |
G |
7: 44,118,397 (GRCm39) |
|
probably null |
Het |
| Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,378,165 (GRCm39) |
A4052T |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,810 (GRCm39) |
N119S |
probably damaging |
Het |
| Lypd6 |
C |
T |
2: 50,055,664 (GRCm39) |
P38L |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,538 (GRCm39) |
C88R |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,505 (GRCm39) |
T158A |
probably damaging |
Het |
| Nudt22 |
A |
T |
19: 6,970,852 (GRCm39) |
S239R |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
| Or52r1c |
A |
T |
7: 102,735,319 (GRCm39) |
D193V |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,487,666 (GRCm39) |
F1779S |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,162,467 (GRCm39) |
K1349E |
probably damaging |
Het |
| Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
| Slc6a15 |
C |
A |
10: 103,240,552 (GRCm39) |
H392N |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,394,441 (GRCm39) |
T375I |
probably benign |
Het |
| Smpd4 |
A |
G |
16: 17,460,076 (GRCm39) |
D436G |
probably damaging |
Het |
| Spata22 |
G |
A |
11: 73,244,571 (GRCm39) |
W311* |
probably null |
Het |
| Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
| Tle6 |
T |
A |
10: 81,430,235 (GRCm39) |
I306F |
probably damaging |
Het |
| Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
| Trim24 |
T |
A |
6: 37,933,388 (GRCm39) |
S656T |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,049,045 (GRCm39) |
V119F |
possibly damaging |
Het |
| Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,333 (GRCm39) |
V202A |
probably damaging |
Het |
| Zfp607b |
G |
A |
7: 27,401,819 (GRCm39) |
V92I |
probably benign |
Het |
| Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
| Zw10 |
A |
G |
9: 48,968,941 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGCCTACATGTTCAAAGATGGG -3'
(R):5'- TCACTCTAGGGTGACAATGCC -3'
Sequencing Primer
(F):5'- CATGTTCAAAGATGGGTAAGAAGTAC -3'
(R):5'- CACTCTAGGGTGACAATGCCAAATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation