Incidental Mutation 'R4023:Zfyve1'
| ID |
313358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve1
|
| Ensembl Gene |
ENSMUSG00000042628 |
| Gene Name |
zinc finger, FYVE domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
040957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83593332-83643996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83641296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048319]
[ENSMUST00000221919]
|
| AlphaFold |
Q810J8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048319
AA Change: V120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: V120A
| 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: V120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223380
|
| Meta Mutation Damage Score |
0.0587 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
T |
C |
9: 26,890,481 (GRCm39) |
I276V |
probably benign |
Het |
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,042,077 (GRCm39) |
T1370I |
possibly damaging |
Het |
| Akna |
C |
G |
4: 63,292,627 (GRCm39) |
G1094A |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,568,942 (GRCm39) |
Y871* |
probably null |
Het |
| Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,786 (GRCm39) |
|
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,451,634 (GRCm39) |
I1591T |
possibly damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,143 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,833,266 (GRCm39) |
K318* |
probably null |
Het |
| Or8c17 |
G |
A |
9: 38,180,757 (GRCm39) |
C308Y |
possibly damaging |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,011,099 (GRCm39) |
Y2389N |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,004,995 (GRCm39) |
S408R |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,765,752 (GRCm39) |
C279* |
probably null |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,588,727 (GRCm39) |
T28A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,193,136 (GRCm39) |
Y47H |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
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 |
|
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 |
|
R7222:Zfyve1
|
UTSW |
12 |
83,601,779 (GRCm39) |
missense |
probably benign |
|
|
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'- TTTCTGCCTCTAAGGGGCAC -3'
(R):5'- TAAGACTCAAAGCTGGCCATG -3'
Sequencing Primer
(F):5'- TTGCAGAGCAAGTTCCCAG -3'
(R):5'- AAAGCTGGCCATGTCCCTTATTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation