Incidental Mutation 'IGL02387:Zfyve19'
| ID |
291603 |
| 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 # |
IGL02387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119039098-119047530 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 119046907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106444
(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 benign
Transcript: ENSMUST00000090174
|
| SMART Domains |
Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
| 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 benign
Transcript: ENSMUST00000102519
|
| SMART Domains |
Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
| 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: ENSMUST00000153349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154185
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
T |
G |
4: 155,986,617 (GRCm39) |
L311R |
probably damaging |
Het |
| Actr6 |
T |
A |
10: 89,550,846 (GRCm39) |
N316I |
probably damaging |
Het |
| Adarb2 |
T |
A |
13: 8,619,994 (GRCm39) |
V160E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,391,066 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,659,627 (GRCm39) |
N445S |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,807 (GRCm39) |
D464G |
probably damaging |
Het |
| Clk2 |
C |
T |
3: 89,083,698 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
A |
C |
17: 32,886,984 (GRCm39) |
T152P |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,952,998 (GRCm39) |
I225F |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,490 (GRCm39) |
Q211R |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,263,902 (GRCm39) |
V87E |
possibly damaging |
Het |
| Gm8165 |
T |
C |
14: 43,913,696 (GRCm39) |
E56G |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,094 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Insrr |
G |
A |
3: 87,720,434 (GRCm39) |
R1024H |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,826,209 (GRCm39) |
W538R |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,378 (GRCm39) |
I232V |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,933,178 (GRCm39) |
N808K |
probably damaging |
Het |
| Or8h10 |
T |
A |
2: 86,808,193 (GRCm39) |
R316* |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,714 (GRCm39) |
S290P |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,387,978 (GRCm39) |
A734V |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,321 (GRCm39) |
N65I |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,738,044 (GRCm39) |
I1275S |
probably damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,468 (GRCm39) |
V201I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,400,929 (GRCm39) |
H987L |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,361 (GRCm39) |
Y2026F |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,572,137 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar8a |
T |
A |
10: 23,953,260 (GRCm39) |
I288N |
possibly damaging |
Het |
| Tpbpb |
T |
G |
13: 61,049,668 (GRCm39) |
*121C |
probably null |
Het |
| Trim29 |
A |
T |
9: 43,236,149 (GRCm39) |
N460I |
probably benign |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,376 (GRCm39) |
I100F |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,274,076 (GRCm39) |
T871A |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,036,803 (GRCm39) |
E363G |
probably damaging |
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 |
|
|
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 |
|
|
IGL03190:Zfyve19
|
APN |
2 |
119,046,717 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-04-16 |
Incidental Mutation