Incidental Mutation 'R6007:Zfyve1'
| ID |
479545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve1
|
| Ensembl Gene |
ENSMUSG00000042628 |
| Gene Name |
zinc finger, FYVE domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
044184-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6007 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83593332-83643996 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83605478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 407
(F407S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048319]
[ENSMUST00000221919]
[ENSMUST00000222448]
|
| AlphaFold |
Q810J8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048319
AA Change: F407S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: F407S
| 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 damaging
Transcript: ENSMUST00000221919
AA Change: F407S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222448
|
| Meta Mutation Damage Score |
0.4512 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
G |
T |
6: 83,137,900 (GRCm39) |
A9S |
possibly damaging |
Het |
| 4930407I10Rik |
C |
G |
15: 81,946,940 (GRCm39) |
T279S |
probably benign |
Het |
| A830018L16Rik |
A |
G |
1: 11,582,140 (GRCm39) |
|
probably null |
Het |
| Abcg5 |
T |
G |
17: 84,976,392 (GRCm39) |
I482L |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,748,462 (GRCm39) |
D44E |
probably damaging |
Het |
| Amh |
A |
G |
10: 80,641,305 (GRCm39) |
N75S |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
T |
C |
2: 153,784,480 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,878 (GRCm39) |
E1449V |
probably null |
Het |
| Chml |
A |
G |
1: 175,515,594 (GRCm39) |
V109A |
probably benign |
Het |
| Crybg3 |
G |
T |
16: 59,374,837 (GRCm39) |
S2139* |
probably null |
Het |
| Cyp2c68 |
T |
C |
19: 39,722,780 (GRCm39) |
D256G |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,253,534 (GRCm39) |
V2315L |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,590,736 (GRCm39) |
I227V |
possibly damaging |
Het |
| Drg2 |
T |
C |
11: 60,353,451 (GRCm39) |
V266A |
possibly damaging |
Het |
| Flcn |
C |
A |
11: 59,683,448 (GRCm39) |
E576D |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,899 (GRCm39) |
D188E |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,639,323 (GRCm39) |
Q471R |
probably benign |
Het |
| Gm43772 |
T |
C |
5: 66,332,334 (GRCm39) |
|
probably benign |
Het |
| Gpc6 |
C |
T |
14: 118,188,673 (GRCm39) |
H436Y |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,226,628 (GRCm39) |
C1842* |
probably null |
Het |
| Ints8 |
G |
A |
4: 11,208,845 (GRCm39) |
T934I |
possibly damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,637,969 (GRCm39) |
C1050* |
probably null |
Het |
| Larp4b |
T |
C |
13: 9,218,793 (GRCm39) |
V510A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,723,933 (GRCm39) |
D305V |
possibly damaging |
Het |
| Mc5r |
A |
T |
18: 68,472,318 (GRCm39) |
I226F |
possibly damaging |
Het |
| Mme |
G |
A |
3: 63,250,929 (GRCm39) |
W323* |
probably null |
Het |
| Mrpl24 |
A |
G |
3: 87,829,705 (GRCm39) |
Y97C |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,965,749 (GRCm39) |
S541N |
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,962,850 (GRCm39) |
V412A |
probably benign |
Het |
| Nrg3 |
T |
A |
14: 39,194,409 (GRCm39) |
K117* |
probably null |
Het |
| Or11j4 |
G |
T |
14: 50,630,948 (GRCm39) |
C245F |
probably damaging |
Het |
| Or4f52 |
T |
C |
2: 111,061,275 (GRCm39) |
T288A |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,506,851 (GRCm39) |
M447K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,843,426 (GRCm39) |
H1844Q |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,629,152 (GRCm39) |
I1541V |
possibly damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,010,293 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Rnf180 |
C |
A |
13: 105,317,957 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,099,216 (GRCm39) |
M625V |
probably benign |
Het |
| Synpo |
T |
A |
18: 60,736,687 (GRCm39) |
M420L |
probably benign |
Het |
| Tmem116 |
A |
C |
5: 121,655,955 (GRCm39) |
*147C |
probably null |
Het |
| Top2b |
G |
A |
14: 16,423,779 (GRCm38) |
|
probably null |
Het |
| Trp53bp2 |
T |
A |
1: 182,283,305 (GRCm39) |
C1014S |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,601,139 (GRCm39) |
F896L |
probably damaging |
Het |
| Vil1 |
T |
C |
1: 74,459,026 (GRCm39) |
W177R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,316 (GRCm39) |
Y623F |
probably benign |
Het |
| Vmn2r86 |
T |
C |
10: 130,289,535 (GRCm39) |
Y120C |
probably damaging |
Het |
| Wdr18 |
A |
G |
10: 79,801,177 (GRCm39) |
T197A |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,076,064 (GRCm39) |
M472V |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,918 (GRCm39) |
Y325C |
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 |
|
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'- GCCCGCTCAGATTCTATAATTTAAC -3'
(R):5'- CCAAGGCTTAGCTTCCTGTG -3'
Sequencing Primer
(F):5'- GGTAACTAACCTACACACCCAAGTC -3'
(R):5'- AAGGCTTAGCTTCCTGTGGTGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation