Incidental Mutation 'R7222:Zfyve1'
ID |
561897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfyve1
|
Ensembl Gene |
ENSMUSG00000042628 |
Gene Name |
zinc finger, FYVE domain containing 1 |
Synonyms |
|
MMRRC Submission |
045294-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7222 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
83593332-83643996 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83601779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 525
(F525L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048319]
[ENSMUST00000221919]
[ENSMUST00000222448]
|
AlphaFold |
Q810J8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048319
AA Change: F525L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042224 Gene: ENSMUSG00000042628 AA Change: F525L
Domain | Start | End | E-Value | Type |
low complexity region
|
429 |
436 |
N/A |
INTRINSIC |
FYVE
|
590 |
660 |
8.36e-13 |
SMART |
FYVE
|
707 |
776 |
1.15e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221919
AA Change: F525L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222448
AA Change: F110L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,082,519 (GRCm39) |
N1151K |
probably benign |
Het |
Add3 |
T |
C |
19: 53,205,277 (GRCm39) |
V9A |
unknown |
Het |
Ankar |
A |
G |
1: 72,705,514 (GRCm39) |
I832T |
probably damaging |
Het |
Arhgef10l |
C |
A |
4: 140,248,580 (GRCm39) |
W785L |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,512,394 (GRCm39) |
Q490* |
probably null |
Het |
Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,749,904 (GRCm39) |
N993I |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,033,385 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
A |
7: 119,670,746 (GRCm39) |
N651Y |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,404,929 (GRCm39) |
|
probably null |
Het |
Eva1c |
AGGGTGTCCTGTACGAAGGACTTCCGGG |
AGGG |
16: 90,701,072 (GRCm39) |
|
probably benign |
Het |
Flg |
T |
A |
3: 93,195,621 (GRCm39) |
S74T |
unknown |
Het |
Fras1 |
T |
C |
5: 96,784,045 (GRCm39) |
Y850H |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,784,668 (GRCm39) |
T884S |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,814,015 (GRCm39) |
T3445A |
probably benign |
Het |
Herc1 |
C |
A |
9: 66,374,781 (GRCm39) |
P3237H |
probably damaging |
Het |
Ifi35 |
A |
G |
11: 101,348,341 (GRCm39) |
N123S |
probably benign |
Het |
Igkv1-117 |
A |
T |
6: 68,098,733 (GRCm39) |
D94V |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,309,614 (GRCm39) |
D764G |
probably damaging |
Het |
Lztr1 |
A |
G |
16: 17,341,996 (GRCm39) |
E657G |
possibly damaging |
Het |
Mmd2 |
G |
T |
5: 142,553,682 (GRCm39) |
L160I |
probably benign |
Het |
Muc2 |
A |
T |
7: 141,290,758 (GRCm39) |
T15S |
|
Het |
Muc6 |
T |
A |
7: 141,214,428 (GRCm39) |
H2835L |
unknown |
Het |
Myo1h |
G |
A |
5: 114,493,322 (GRCm39) |
|
probably null |
Het |
Or10v5 |
C |
A |
19: 11,806,021 (GRCm39) |
R123L |
probably damaging |
Het |
Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
Or52n4 |
T |
C |
7: 104,293,937 (GRCm39) |
D214G |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,104,809 (GRCm39) |
M195L |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,021,844 (GRCm39) |
D22G |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,758 (GRCm39) |
Y58H |
probably damaging |
Het |
Or7g32 |
A |
T |
9: 19,388,763 (GRCm39) |
V261E |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,951,364 (GRCm39) |
T684A |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,803 (GRCm39) |
K219R |
probably benign |
Het |
Pde4d |
A |
T |
13: 109,894,113 (GRCm39) |
H156L |
probably damaging |
Het |
Polq |
G |
T |
16: 36,906,995 (GRCm39) |
E2319* |
probably null |
Het |
Ranbp3 |
T |
G |
17: 57,017,211 (GRCm39) |
V409G |
probably damaging |
Het |
Sart3 |
T |
C |
5: 113,884,717 (GRCm39) |
D629G |
probably benign |
Het |
Selenon |
T |
A |
4: 134,275,288 (GRCm39) |
T137S |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,380,530 (GRCm39) |
D55E |
|
Het |
Slamf8 |
G |
A |
1: 172,411,775 (GRCm39) |
T240I |
possibly damaging |
Het |
Slc39a10 |
A |
G |
1: 46,858,452 (GRCm39) |
L615P |
possibly damaging |
Het |
Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
Tbce |
T |
C |
13: 14,172,735 (GRCm39) |
D505G |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,754,004 (GRCm39) |
G800R |
probably damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,547 (GRCm39) |
V145A |
possibly damaging |
Het |
Tmprss7 |
T |
C |
16: 45,511,256 (GRCm39) |
I41V |
probably benign |
Het |
Traj49 |
A |
T |
14: 54,406,160 (GRCm39) |
N6I |
|
Het |
Trim30a |
T |
C |
7: 104,070,639 (GRCm39) |
|
probably null |
Het |
Ubr4 |
T |
A |
4: 139,190,684 (GRCm39) |
S905T |
unknown |
Het |
Unc93a2 |
A |
G |
17: 7,643,866 (GRCm39) |
S148P |
probably damaging |
Het |
Zfp948 |
T |
A |
17: 21,808,102 (GRCm39) |
H431Q |
probably damaging |
Het |
|
Other mutations in Zfyve1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Zfyve1
|
APN |
12 |
83,621,572 (GRCm39) |
missense |
probably benign |
0.09 |
IGL00475:Zfyve1
|
APN |
12 |
83,602,485 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01291:Zfyve1
|
APN |
12 |
83,601,779 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01380:Zfyve1
|
APN |
12 |
83,599,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02037:Zfyve1
|
APN |
12 |
83,594,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02184:Zfyve1
|
APN |
12 |
83,605,467 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02619:Zfyve1
|
APN |
12 |
83,597,718 (GRCm39) |
unclassified |
probably benign |
|
IGL03031:Zfyve1
|
APN |
12 |
83,621,595 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03105:Zfyve1
|
APN |
12 |
83,605,413 (GRCm39) |
missense |
probably damaging |
1.00 |
sasso
|
UTSW |
12 |
83,621,830 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU05:Zfyve1
|
UTSW |
12 |
83,601,779 (GRCm39) |
missense |
probably benign |
0.04 |
R0123:Zfyve1
|
UTSW |
12 |
83,601,847 (GRCm39) |
splice site |
probably benign |
|
R0225:Zfyve1
|
UTSW |
12 |
83,601,847 (GRCm39) |
splice site |
probably benign |
|
R0468:Zfyve1
|
UTSW |
12 |
83,602,048 (GRCm39) |
splice site |
probably benign |
|
R1218:Zfyve1
|
UTSW |
12 |
83,594,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1896:Zfyve1
|
UTSW |
12 |
83,602,388 (GRCm39) |
missense |
probably damaging |
0.99 |
R2291:Zfyve1
|
UTSW |
12 |
83,594,705 (GRCm39) |
missense |
probably damaging |
0.99 |
R4023:Zfyve1
|
UTSW |
12 |
83,641,296 (GRCm39) |
missense |
probably benign |
|
R4026:Zfyve1
|
UTSW |
12 |
83,641,296 (GRCm39) |
missense |
probably benign |
|
R4209:Zfyve1
|
UTSW |
12 |
83,621,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Zfyve1
|
UTSW |
12 |
83,621,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R4780:Zfyve1
|
UTSW |
12 |
83,605,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R4907:Zfyve1
|
UTSW |
12 |
83,621,646 (GRCm39) |
missense |
probably damaging |
0.96 |
R4908:Zfyve1
|
UTSW |
12 |
83,598,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Zfyve1
|
UTSW |
12 |
83,594,839 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5076:Zfyve1
|
UTSW |
12 |
83,602,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R5303:Zfyve1
|
UTSW |
12 |
83,621,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R5628:Zfyve1
|
UTSW |
12 |
83,621,663 (GRCm39) |
missense |
probably benign |
0.00 |
R5739:Zfyve1
|
UTSW |
12 |
83,621,910 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6007:Zfyve1
|
UTSW |
12 |
83,605,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R6355:Zfyve1
|
UTSW |
12 |
83,641,415 (GRCm39) |
missense |
probably benign |
0.01 |
R6641:Zfyve1
|
UTSW |
12 |
83,641,270 (GRCm39) |
missense |
probably benign |
|
R6735:Zfyve1
|
UTSW |
12 |
83,641,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7278:Zfyve1
|
UTSW |
12 |
83,598,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Zfyve1
|
UTSW |
12 |
83,598,261 (GRCm39) |
missense |
probably benign |
0.00 |
R8690:Zfyve1
|
UTSW |
12 |
83,597,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:Zfyve1
|
UTSW |
12 |
83,598,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Zfyve1
|
UTSW |
12 |
83,594,802 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATGGGCTCTACAGATCCTGTC -3'
(R):5'- CAAAGTATGCCTGGTCTGGG -3'
Sequencing Primer
(F):5'- TCACGTGCTAAAACTCATGGCTG -3'
(R):5'- GGGTGAGTTTTTCTAACACGCTAAAG -3'
|
Posted On |
2019-06-26 |