Incidental Mutation 'R5492:Zfyve19'
| ID |
432106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve19
|
| Ensembl Gene |
ENSMUSG00000068580 |
| Gene Name |
zinc finger, FYVE domain containing 19 |
| Synonyms |
1500041L05Rik |
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119039098-119047530 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 119039595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000123776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153349
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
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 |
|
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 |
|
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'- ATGAACTACGACTCCCAGCATG -3'
(R):5'- TCCGACCCACTTTACAGAGAG -3'
Sequencing Primer
(F):5'- CATGCCCCACTCCGCTG -3'
(R):5'- CTTTACAGAGAGGTTAACCGGGTTAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation