Incidental Mutation 'R8899:Fyco1'
| ID |
679848 |
| 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 |
068756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8899 (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 C
at 123655646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1037
(D1037E)
|
| 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: D1037E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
AA Change: D1037E
| 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: D1037E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
AA Change: D1037E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,900 (GRCm39) |
N167I |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,981,017 (GRCm39) |
I330T |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,389 (GRCm39) |
K484E |
possibly damaging |
Het |
| Atl2 |
T |
C |
17: 80,183,469 (GRCm39) |
D42G |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,042,429 (GRCm39) |
I2805T |
probably damaging |
Het |
| Cd209e |
C |
T |
8: 3,901,212 (GRCm39) |
W147* |
probably null |
Het |
| Cdc40 |
G |
A |
10: 40,717,809 (GRCm39) |
Q365* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,945,644 (GRCm39) |
T1053A |
probably benign |
Het |
| Colgalt1 |
T |
C |
8: 72,076,306 (GRCm39) |
S586P |
probably damaging |
Het |
| Crem |
A |
G |
18: 3,295,370 (GRCm39) |
I91T |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,987 (GRCm39) |
V460I |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,474,246 (GRCm39) |
I136N |
possibly damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,929 (GRCm39) |
I273N |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,348,817 (GRCm39) |
I505T |
probably damaging |
Het |
| Fbxo44 |
A |
T |
4: 148,238,078 (GRCm39) |
Y216* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,748,567 (GRCm39) |
M398K |
probably damaging |
Het |
| Fut10 |
T |
C |
8: 31,726,514 (GRCm39) |
V423A |
possibly damaging |
Het |
| Gabrg2 |
G |
A |
11: 41,867,377 (GRCm39) |
R81* |
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,717,220 (GRCm39) |
V204A |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,608 (GRCm39) |
L593P |
probably damaging |
Het |
| Grm4 |
T |
C |
17: 27,653,754 (GRCm39) |
Q732R |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,948,415 (GRCm39) |
V741A |
possibly damaging |
Het |
| Iqub |
C |
T |
6: 24,505,768 (GRCm39) |
E47K |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,580 (GRCm39) |
K210R |
probably benign |
Het |
| Kdm2b |
T |
A |
5: 123,125,851 (GRCm39) |
R12* |
probably null |
Het |
| Kifbp |
T |
C |
10: 62,399,282 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lgi1 |
C |
T |
19: 38,294,538 (GRCm39) |
H413Y |
probably damaging |
Het |
| Lhx8 |
A |
G |
3: 154,033,653 (GRCm39) |
Y51H |
probably damaging |
Het |
| Lim2 |
T |
C |
7: 43,083,055 (GRCm39) |
I80T |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,368,852 (GRCm39) |
F405L |
probably benign |
Het |
| Mefv |
G |
A |
16: 3,528,764 (GRCm39) |
T559I |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,077,710 (GRCm39) |
W1739R |
probably damaging |
Het |
| Or10h1 |
A |
T |
17: 33,418,718 (GRCm39) |
K232M |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,269 (GRCm39) |
F19L |
probably damaging |
Het |
| Or5t16 |
A |
G |
2: 86,818,710 (GRCm39) |
I270T |
probably benign |
Het |
| Or8b3b |
C |
T |
9: 38,584,147 (GRCm39) |
V198I |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,231,886 (GRCm39) |
|
probably null |
Het |
| Pate9 |
A |
T |
9: 36,446,254 (GRCm39) |
C53S |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,082 (GRCm39) |
I247V |
probably benign |
Het |
| Polr2d |
T |
A |
18: 31,922,226 (GRCm39) |
M1K |
probably null |
Het |
| Prss53 |
T |
C |
7: 127,488,193 (GRCm39) |
T141A |
possibly damaging |
Het |
| Rdh12 |
A |
G |
12: 79,268,802 (GRCm39) |
N293S |
probably benign |
Het |
| Rnf146 |
G |
A |
10: 29,223,754 (GRCm39) |
T44I |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,101,865 (GRCm39) |
C588S |
probably damaging |
Het |
| Septin8 |
G |
A |
11: 53,426,862 (GRCm39) |
V208I |
probably damaging |
Het |
| Sgo2a |
T |
G |
1: 58,058,822 (GRCm39) |
S1134A |
possibly damaging |
Het |
| Sh3bp4 |
C |
T |
1: 89,073,297 (GRCm39) |
T715I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,078,517 (GRCm39) |
T1758A |
probably damaging |
Het |
| Snx6 |
A |
T |
12: 54,812,423 (GRCm39) |
D70E |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,983,695 (GRCm39) |
S341P |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,590 (GRCm39) |
D278G |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
T |
A |
17: 86,292,885 (GRCm39) |
S895C |
|
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tas2r136 |
T |
C |
6: 132,754,323 (GRCm39) |
D268G |
probably benign |
Het |
| Tas2r143 |
T |
A |
6: 42,377,888 (GRCm39) |
Y239* |
probably null |
Het |
| Tbc1d17 |
C |
T |
7: 44,492,328 (GRCm39) |
G419D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,362,113 (GRCm39) |
W68* |
probably null |
Het |
| Thop1 |
T |
C |
10: 80,916,440 (GRCm39) |
C483R |
probably damaging |
Het |
| Tmem245 |
A |
C |
4: 56,903,916 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
A |
G |
4: 12,055,038 (GRCm39) |
F655S |
probably damaging |
Het |
| Trim36 |
T |
G |
18: 46,302,264 (GRCm39) |
S583R |
possibly damaging |
Het |
| Ucp1 |
T |
C |
8: 84,017,216 (GRCm39) |
V2A |
probably benign |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,803 (GRCm39) |
M203K |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,819,347 (GRCm39) |
K270E |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,841,783 (GRCm39) |
F1935S |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp799 |
G |
T |
17: 33,039,348 (GRCm39) |
P306Q |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,485,978 (GRCm39) |
R218W |
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 |
|
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'- TGCAGAAGATGGCCAACTTTTC -3'
(R):5'- AAAGGTTTCTGGCCTCGTGAG -3'
Sequencing Primer
(F):5'- AAGATGGCCAACTTTTCCGTGG -3'
(R):5'- TCTGGCCTCGTGAGCTTGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation