Incidental Mutation 'IGL02201:Zfyve28'
| ID |
284203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfyve28
|
| Ensembl Gene |
ENSMUSG00000037224 |
| Gene Name |
zinc finger, FYVE domain containing 28 |
| Synonyms |
9630058O20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34352237-34445793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34400549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 50
(T50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094868]
[ENSMUST00000114368]
|
| AlphaFold |
Q6ZPK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094868
AA Change: T50A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
AA Change: T50A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
FYVE
|
827 |
896 |
8.73e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114368
AA Change: T50A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114370
|
| SMART Domains |
Protein: ENSMUSP00000110010
Gene: ENSMUSG00000037224
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
310 |
344 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
G |
A |
1: 78,676,870 (GRCm39) |
G484R |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,459,631 (GRCm39) |
|
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,131,022 (GRCm39) |
D238G |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,823,999 (GRCm39) |
D1418V |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,831 (GRCm39) |
K353M |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,658,194 (GRCm39) |
F673L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk1a |
A |
G |
16: 94,493,008 (GRCm39) |
E747G |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,760,683 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
A |
G |
13: 64,000,783 (GRCm39) |
N516D |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,806,024 (GRCm39) |
L330P |
probably damaging |
Het |
| Fgr |
A |
T |
4: 132,722,235 (GRCm39) |
Y168F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,427,061 (GRCm39) |
K2962N |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,915,382 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
A |
T |
1: 40,352,428 (GRCm39) |
N533Y |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,375 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,633 (GRCm39) |
P445S |
probably benign |
Het |
| Lamb2 |
G |
A |
9: 108,364,741 (GRCm39) |
C1165Y |
probably damaging |
Het |
| Nisch |
C |
T |
14: 30,909,051 (GRCm39) |
|
probably benign |
Het |
| Or1i2 |
C |
T |
10: 78,448,104 (GRCm39) |
V124M |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,105,212 (GRCm39) |
S94T |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,893 (GRCm39) |
D267G |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,721,420 (GRCm39) |
L33P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,133,843 (GRCm39) |
M953K |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,274,506 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,757,890 (GRCm39) |
|
probably benign |
Het |
| Prr23a3 |
G |
T |
9: 98,747,297 (GRCm39) |
V84L |
possibly damaging |
Het |
| Psg26 |
A |
G |
7: 18,214,071 (GRCm39) |
V197A |
probably benign |
Het |
| Ptpra |
T |
A |
2: 30,336,389 (GRCm39) |
C80S |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,377 (GRCm39) |
V122E |
possibly damaging |
Het |
| Scd2 |
A |
G |
19: 44,289,779 (GRCm39) |
N258S |
probably damaging |
Het |
| Slc38a1 |
A |
T |
15: 96,476,679 (GRCm39) |
V394E |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,589,023 (GRCm39) |
S175P |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,227,942 (GRCm39) |
D1542E |
possibly damaging |
Het |
| Trim67 |
G |
T |
8: 125,520,797 (GRCm39) |
R53L |
probably benign |
Het |
| Urah |
A |
T |
7: 140,415,576 (GRCm39) |
T38S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,874,418 (GRCm39) |
S3362G |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfyve28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Zfyve28
|
APN |
5 |
34,400,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4418001:Zfyve28
|
UTSW |
5 |
34,390,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Zfyve28
|
UTSW |
5 |
34,389,550 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1226:Zfyve28
|
UTSW |
5 |
34,374,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1290:Zfyve28
|
UTSW |
5 |
34,356,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1351:Zfyve28
|
UTSW |
5 |
34,389,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Zfyve28
|
UTSW |
5 |
34,374,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2062:Zfyve28
|
UTSW |
5 |
34,391,681 (GRCm39) |
missense |
probably null |
0.73 |
|
R2212:Zfyve28
|
UTSW |
5 |
34,357,028 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2443:Zfyve28
|
UTSW |
5 |
34,374,238 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2851:Zfyve28
|
UTSW |
5 |
34,354,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2852:Zfyve28
|
UTSW |
5 |
34,354,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3412:Zfyve28
|
UTSW |
5 |
34,357,028 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3413:Zfyve28
|
UTSW |
5 |
34,357,028 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3694:Zfyve28
|
UTSW |
5 |
34,374,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Zfyve28
|
UTSW |
5 |
34,379,787 (GRCm39) |
intron |
probably benign |
|
|
R4700:Zfyve28
|
UTSW |
5 |
34,375,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Zfyve28
|
UTSW |
5 |
34,390,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5384:Zfyve28
|
UTSW |
5 |
34,374,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Zfyve28
|
UTSW |
5 |
34,374,214 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5936:Zfyve28
|
UTSW |
5 |
34,382,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Zfyve28
|
UTSW |
5 |
34,356,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6862:Zfyve28
|
UTSW |
5 |
34,445,449 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7172:Zfyve28
|
UTSW |
5 |
34,391,753 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7243:Zfyve28
|
UTSW |
5 |
34,356,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Zfyve28
|
UTSW |
5 |
34,389,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Zfyve28
|
UTSW |
5 |
34,393,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Zfyve28
|
UTSW |
5 |
34,400,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Zfyve28
|
UTSW |
5 |
34,382,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Zfyve28
|
UTSW |
5 |
34,374,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Zfyve28
|
UTSW |
5 |
34,356,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Zfyve28
|
UTSW |
5 |
34,382,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Zfyve28
|
UTSW |
5 |
34,374,944 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8483:Zfyve28
|
UTSW |
5 |
34,393,480 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8799:Zfyve28
|
UTSW |
5 |
34,390,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8883:Zfyve28
|
UTSW |
5 |
34,375,211 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8912:Zfyve28
|
UTSW |
5 |
34,374,655 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9179:Zfyve28
|
UTSW |
5 |
34,382,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9228:Zfyve28
|
UTSW |
5 |
34,374,788 (GRCm39) |
missense |
probably benign |
|
|
R9381:Zfyve28
|
UTSW |
5 |
34,373,932 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9432:Zfyve28
|
UTSW |
5 |
34,400,633 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9509:Zfyve28
|
UTSW |
5 |
34,354,892 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Posted On |
2015-04-16 |
Incidental Mutation