Incidental Mutation 'R3699:Zfyve19'
| ID |
269907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve19
|
| Ensembl Gene |
ENSMUSG00000068580 |
| Gene Name |
zinc finger, FYVE domain containing 19 |
| Synonyms |
1500041L05Rik |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119039098-119047530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119041720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 96
(T96A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038439]
[ENSMUST00000090174]
[ENSMUST00000102519]
|
| AlphaFold |
Q9DAZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038439
|
| SMART Domains |
Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278
| Domain | Start | End | E-Value | Type |
|---|
|
DnaJ
|
10 |
68 |
3.66e-21 |
SMART |
|
coiled coil region
|
112 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
187 |
243 |
1.8e-6 |
PFAM |
|
Pfam:RRM_5
|
194 |
246 |
1.7e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090174
AA Change: T96A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: T96A
| 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
AA Change: T96A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: T96A
| 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 |
noncoding transcript
Transcript: ENSMUST00000123323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154185
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCATTTGGGAGCTCCTTC -3'
(R):5'- AGGGTACTGACTCTGCAGTTGG -3'
Sequencing Primer
(F):5'- AGGCATACCCTCCTGCTG -3'
(R):5'- ACTGACTCTGCAGTTGGAAGGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation