Incidental Mutation 'IGL03190:Zfyve19'
| ID |
412624 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfyve19
|
| Ensembl Gene |
ENSMUSG00000068580 |
| Gene Name |
zinc finger, FYVE domain containing 19 |
| Synonyms |
1500041L05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
IGL03190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119039098-119047530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119046717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 304
(A304T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076084]
[ENSMUST00000090174]
[ENSMUST00000102519]
[ENSMUST00000110820]
|
| AlphaFold |
Q9DAZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076084
|
| SMART Domains |
Protein: ENSMUSP00000075453
Gene: ENSMUSG00000027317
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:PP1_inhibitor
|
22 |
146 |
1.3e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090174
AA Change: A304T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: A304T
| Domain | Start | End | E-Value | Type |
|---|
|
FYVE
|
2 |
59 |
4.32e-6 |
SMART |
|
RING
|
8 |
53 |
5.56e-1 |
SMART |
|
low complexity region
|
167 |
187 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
335 |
N/A |
INTRINSIC |
|
PDB:2D8V|A
|
336 |
389 |
2e-35 |
PDB |
|
Blast:RING
|
339 |
380 |
7e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102519
AA Change: A304T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: A304T
| Domain | Start | End | E-Value | Type |
|---|
|
FYVE
|
2 |
59 |
4.32e-6 |
SMART |
|
RING
|
8 |
53 |
5.56e-1 |
SMART |
|
low complexity region
|
167 |
187 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110820
|
| SMART Domains |
Protein: ENSMUSP00000106444
Gene: ENSMUSG00000027317
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:PP1_inhibitor
|
22 |
100 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154057
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
| Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
| Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
| Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
| Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
| Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
| Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
| Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
| Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
| Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
| Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfyve19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01078:Zfyve19
|
APN |
2 |
119,046,981 (GRCm39) |
nonsense |
probably null |
|
|
IGL01369:Zfyve19
|
APN |
2 |
119,041,094 (GRCm39) |
splice site |
probably benign |
|
|
IGL02387:Zfyve19
|
APN |
2 |
119,046,907 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02623:Zfyve19
|
APN |
2 |
119,042,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02904:Zfyve19
|
APN |
2 |
119,040,953 (GRCm39) |
splice site |
probably benign |
|
|
IGL02938:Zfyve19
|
APN |
2 |
119,041,999 (GRCm39) |
missense |
probably benign |
|
|
R0653:Zfyve19
|
UTSW |
2 |
119,041,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0835:Zfyve19
|
UTSW |
2 |
119,041,266 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1709:Zfyve19
|
UTSW |
2 |
119,041,300 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1824:Zfyve19
|
UTSW |
2 |
119,042,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1938:Zfyve19
|
UTSW |
2 |
119,041,693 (GRCm39) |
missense |
probably benign |
|
|
R3699:Zfyve19
|
UTSW |
2 |
119,041,720 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4177:Zfyve19
|
UTSW |
2 |
119,046,693 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4191:Zfyve19
|
UTSW |
2 |
119,041,312 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5492:Zfyve19
|
UTSW |
2 |
119,039,595 (GRCm39) |
start gained |
probably benign |
|
|
R5531:Zfyve19
|
UTSW |
2 |
119,042,427 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6349:Zfyve19
|
UTSW |
2 |
119,041,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Zfyve19
|
UTSW |
2 |
119,047,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Zfyve19
|
UTSW |
2 |
119,041,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Zfyve19
|
UTSW |
2 |
119,041,718 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9130:Zfyve19
|
UTSW |
2 |
119,045,330 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation