Incidental Mutation 'IGL00475:Zfyve1'
| ID |
15024 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfyve1
|
| Ensembl Gene |
ENSMUSG00000042628 |
| Gene Name |
zinc finger, FYVE domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83593332-83643996 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 83602485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048319]
[ENSMUST00000221919]
[ENSMUST00000222448]
|
| AlphaFold |
Q810J8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048319
|
| SMART Domains |
Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
429 |
436 |
N/A |
INTRINSIC |
|
FYVE
|
590 |
660 |
8.36e-13 |
SMART |
|
FYVE
|
707 |
776 |
1.15e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221228
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221919
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222448
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
A |
16: 14,254,437 (GRCm39) |
A583T |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Ces1a |
A |
G |
8: 93,747,095 (GRCm39) |
L548P |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,725,501 (GRCm39) |
R25* |
probably null |
Het |
| Depdc1b |
T |
A |
13: 108,493,974 (GRCm39) |
Y121N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,736,325 (GRCm39) |
F736L |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,545,571 (GRCm39) |
K868R |
probably benign |
Het |
| Fgd1 |
C |
T |
X: 149,855,440 (GRCm39) |
A502V |
probably benign |
Het |
| Gm5111 |
A |
T |
6: 48,566,620 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,133,767 (GRCm39) |
G480* |
probably null |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Metap1d |
C |
T |
2: 71,346,090 (GRCm39) |
A217V |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,374,144 (GRCm39) |
K140E |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,688,495 (GRCm39) |
|
probably null |
Het |
| Ogn |
A |
G |
13: 49,776,391 (GRCm39) |
I277V |
probably benign |
Het |
| Pole |
T |
A |
5: 110,438,962 (GRCm39) |
Y187* |
probably null |
Het |
| Psme4 |
A |
T |
11: 30,795,252 (GRCm39) |
K1254I |
probably benign |
Het |
| Rac1 |
G |
A |
5: 143,493,093 (GRCm39) |
A165V |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,152,093 (GRCm39) |
M2185K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,176,077 (GRCm39) |
D274V |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,919,246 (GRCm39) |
Y376* |
probably null |
Het |
| Tead1 |
C |
A |
7: 112,438,662 (GRCm39) |
T66K |
probably damaging |
Het |
| Vps53 |
C |
T |
11: 75,967,861 (GRCm39) |
|
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,223,500 (GRCm39) |
R592G |
possibly damaging |
Het |
|
| Other mutations in Zfyve1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Zfyve1
|
APN |
12 |
83,621,572 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01291:Zfyve1
|
APN |
12 |
83,601,779 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01380:Zfyve1
|
APN |
12 |
83,599,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Zfyve1
|
APN |
12 |
83,594,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Zfyve1
|
APN |
12 |
83,605,467 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02619:Zfyve1
|
APN |
12 |
83,597,718 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03031:Zfyve1
|
APN |
12 |
83,621,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03105:Zfyve1
|
APN |
12 |
83,605,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sasso
|
UTSW |
12 |
83,621,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Zfyve1
|
UTSW |
12 |
83,601,779 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0123:Zfyve1
|
UTSW |
12 |
83,601,847 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Zfyve1
|
UTSW |
12 |
83,601,847 (GRCm39) |
splice site |
probably benign |
|
|
R0468:Zfyve1
|
UTSW |
12 |
83,602,048 (GRCm39) |
splice site |
probably benign |
|
|
R1218:Zfyve1
|
UTSW |
12 |
83,594,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1896:Zfyve1
|
UTSW |
12 |
83,602,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2291:Zfyve1
|
UTSW |
12 |
83,594,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4023:Zfyve1
|
UTSW |
12 |
83,641,296 (GRCm39) |
missense |
probably benign |
|
|
R4026:Zfyve1
|
UTSW |
12 |
83,641,296 (GRCm39) |
missense |
probably benign |
|
|
R4209:Zfyve1
|
UTSW |
12 |
83,621,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Zfyve1
|
UTSW |
12 |
83,621,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Zfyve1
|
UTSW |
12 |
83,605,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Zfyve1
|
UTSW |
12 |
83,621,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4908:Zfyve1
|
UTSW |
12 |
83,598,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Zfyve1
|
UTSW |
12 |
83,594,839 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5076:Zfyve1
|
UTSW |
12 |
83,602,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Zfyve1
|
UTSW |
12 |
83,621,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Zfyve1
|
UTSW |
12 |
83,621,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5739:Zfyve1
|
UTSW |
12 |
83,621,910 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6007:Zfyve1
|
UTSW |
12 |
83,605,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6355:Zfyve1
|
UTSW |
12 |
83,641,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6641:Zfyve1
|
UTSW |
12 |
83,641,270 (GRCm39) |
missense |
probably benign |
|
|
R6735:Zfyve1
|
UTSW |
12 |
83,641,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7222:Zfyve1
|
UTSW |
12 |
83,601,779 (GRCm39) |
missense |
probably benign |
|
|
R7278:Zfyve1
|
UTSW |
12 |
83,598,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Zfyve1
|
UTSW |
12 |
83,598,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8690:Zfyve1
|
UTSW |
12 |
83,597,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Zfyve1
|
UTSW |
12 |
83,598,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Zfyve1
|
UTSW |
12 |
83,594,802 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation