Incidental Mutation 'IGL03031:Zfyve1'
| ID |
408452 |
| 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 # |
IGL03031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83593332-83643996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83621595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 267
(T267A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048319]
[ENSMUST00000221919]
|
| AlphaFold |
Q810J8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048319
AA Change: T267A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: T267A
| 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 |
probably damaging
Transcript: ENSMUST00000221919
AA Change: T267A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,183 (GRCm39) |
D753G |
probably benign |
Het |
| Adat2 |
T |
C |
10: 13,432,590 (GRCm39) |
|
probably benign |
Het |
| Ahsa2 |
A |
G |
11: 23,440,426 (GRCm39) |
L275S |
probably benign |
Het |
| Arhgef38 |
C |
T |
3: 132,837,828 (GRCm39) |
D118N |
possibly damaging |
Het |
| Bicra |
A |
T |
7: 15,709,726 (GRCm39) |
H1097Q |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,104 (GRCm39) |
T1389A |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,535 (GRCm39) |
S194G |
probably benign |
Het |
| Chgb |
C |
A |
2: 132,635,434 (GRCm39) |
Q459K |
probably benign |
Het |
| Clvs1 |
G |
T |
4: 9,449,385 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,492,923 (GRCm39) |
G186R |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,553,975 (GRCm39) |
|
probably benign |
Het |
| Epsti1 |
G |
A |
14: 78,212,021 (GRCm39) |
R249K |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,952,025 (GRCm39) |
Y90* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,980 (GRCm39) |
R274G |
probably damaging |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Hectd4 |
C |
T |
5: 121,486,857 (GRCm39) |
T3284M |
possibly damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,892,522 (GRCm39) |
M245T |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,882 (GRCm39) |
V281A |
possibly damaging |
Het |
| Med18 |
G |
T |
4: 132,186,924 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,704 (GRCm39) |
V3A |
probably benign |
Het |
| Mpped2 |
G |
T |
2: 106,613,968 (GRCm39) |
|
probably benign |
Het |
| Ms4a10 |
A |
G |
19: 10,946,035 (GRCm39) |
V32A |
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,968,601 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,097,213 (GRCm39) |
Q422L |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,085,721 (GRCm39) |
Q819L |
possibly damaging |
Het |
| Ncoa1 |
G |
A |
12: 4,324,818 (GRCm39) |
T921I |
possibly damaging |
Het |
| Or10d4b |
A |
G |
9: 39,534,694 (GRCm39) |
I92V |
probably damaging |
Het |
| Or6c214 |
A |
G |
10: 129,591,238 (GRCm39) |
L27P |
possibly damaging |
Het |
| Or8c16 |
A |
C |
9: 38,130,361 (GRCm39) |
T81P |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,734 (GRCm39) |
S1742P |
probably benign |
Het |
| Plxdc2 |
G |
A |
2: 16,655,043 (GRCm39) |
|
probably null |
Het |
| Poc5 |
A |
G |
13: 96,538,123 (GRCm39) |
T263A |
probably benign |
Het |
| Prss41 |
T |
A |
17: 24,061,396 (GRCm39) |
I132F |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,195 (GRCm39) |
I329T |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,466,464 (GRCm39) |
|
probably null |
Het |
| Rnps1-ps |
T |
C |
6: 7,982,857 (GRCm39) |
|
noncoding transcript |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,411 (GRCm39) |
V882E |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,996,249 (GRCm39) |
E776G |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,449,638 (GRCm39) |
I207V |
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,817,664 (GRCm39) |
F123L |
probably benign |
Het |
| Spats2 |
A |
G |
15: 99,078,569 (GRCm39) |
T211A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,656,148 (GRCm39) |
M1K |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,225,585 (GRCm39) |
T757A |
possibly damaging |
Het |
| Tecta |
A |
C |
9: 42,256,789 (GRCm39) |
M1629R |
probably benign |
Het |
| Ufsp2 |
T |
A |
8: 46,437,137 (GRCm39) |
I101N |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,368 (GRCm39) |
C892S |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,874,361 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,208,381 (GRCm39) |
V167E |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,862,608 (GRCm39) |
L588P |
probably 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 |
|
IGL00475:Zfyve1
|
APN |
12 |
83,602,485 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation