Incidental Mutation 'R4177:Zfyve19'
ID |
319543 |
Institutional Source |
Beutler Lab
|
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 # |
R4177 (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 119046693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 296
(T296A)
|
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 |
possibly damaging
Transcript: ENSMUST00000090174
AA Change: T296A
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087636 Gene: ENSMUSG00000068580 AA Change: T296A
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 |
possibly damaging
Transcript: ENSMUST00000102519
AA Change: T296A
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099577 Gene: ENSMUSG00000068580 AA Change: T296A
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: ENSMUST00000154057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153349
|
Meta Mutation Damage Score |
0.0731 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aicda |
A |
T |
6: 122,538,043 (GRCm39) |
D67V |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,158,510 (GRCm39) |
R182G |
probably null |
Het |
Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
Bscl2 |
A |
G |
19: 8,817,120 (GRCm39) |
D16G |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,321,294 (GRCm39) |
V506A |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,400,816 (GRCm39) |
Q441L |
possibly damaging |
Het |
Crebbp |
A |
T |
16: 3,937,663 (GRCm39) |
M700K |
possibly damaging |
Het |
Dhcr7 |
A |
G |
7: 143,394,910 (GRCm39) |
Y142C |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,962,394 (GRCm39) |
M602T |
probably benign |
Het |
Dysf |
C |
T |
6: 84,044,013 (GRCm39) |
R254* |
probably null |
Het |
Ednra |
A |
C |
8: 78,401,677 (GRCm39) |
I204M |
possibly damaging |
Het |
Fabp2 |
A |
G |
3: 122,690,547 (GRCm39) |
T77A |
possibly damaging |
Het |
Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
Gnb1 |
T |
C |
4: 155,625,113 (GRCm39) |
|
probably benign |
Het |
Gpc2 |
T |
C |
5: 138,275,621 (GRCm39) |
|
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,732,280 (GRCm39) |
|
probably benign |
Het |
Lypla2 |
T |
C |
4: 135,696,403 (GRCm39) |
|
probably benign |
Het |
Maf |
A |
T |
8: 116,433,210 (GRCm39) |
Y131* |
probably null |
Het |
Mfsd4a |
T |
A |
1: 131,968,295 (GRCm39) |
H335L |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,302 (GRCm39) |
Y122H |
probably damaging |
Het |
Myo10 |
A |
T |
15: 25,734,137 (GRCm39) |
Q342L |
possibly damaging |
Het |
N4bp2 |
A |
G |
5: 65,955,513 (GRCm39) |
|
probably null |
Het |
Or5t15 |
A |
T |
2: 86,681,745 (GRCm39) |
M99K |
possibly damaging |
Het |
Pomt1 |
A |
G |
2: 32,138,689 (GRCm39) |
N435S |
probably damaging |
Het |
Pram1 |
A |
G |
17: 33,860,203 (GRCm39) |
I257V |
probably benign |
Het |
Rab9 |
G |
T |
X: 165,241,296 (GRCm39) |
S5* |
probably null |
Het |
Ralgapa2 |
A |
T |
2: 146,327,083 (GRCm39) |
Y59N |
probably damaging |
Het |
Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
Rps6kc1 |
G |
A |
1: 190,532,616 (GRCm39) |
T462M |
possibly damaging |
Het |
Selenoo |
C |
T |
15: 88,983,662 (GRCm39) |
|
probably benign |
Het |
Sptb |
G |
C |
12: 76,659,953 (GRCm39) |
D982E |
probably benign |
Het |
Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
Ubald1 |
A |
G |
16: 4,693,745 (GRCm39) |
|
probably benign |
Het |
Ube2d1 |
T |
C |
10: 71,094,033 (GRCm39) |
K101R |
probably damaging |
Het |
Unc5cl |
A |
G |
17: 48,769,298 (GRCm39) |
T261A |
probably benign |
Het |
Zcwpw1 |
G |
T |
5: 137,798,395 (GRCm39) |
K197N |
probably damaging |
Het |
Zfp268 |
T |
C |
4: 145,347,225 (GRCm39) |
L43S |
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 |
|
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 |
|
R3699:Zfyve19
|
UTSW |
2 |
119,041,720 (GRCm39) |
missense |
probably benign |
0.03 |
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'- TCCTGGTGTCTTGACATAGGA -3'
(R):5'- GACTACAGAGATGGAGCCGT -3'
Sequencing Primer
(F):5'- CCTGTGTTCTACCAGAAGCATGG -3'
(R):5'- CATCTCTGCCTTGCAGG -3'
|
Posted On |
2015-06-10 |