Incidental Mutation 'R2083:Zfyve16'
| ID |
230163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve16
|
| Ensembl Gene |
ENSMUSG00000021706 |
| Gene Name |
zinc finger, FYVE domain containing 16 |
| Synonyms |
B130024H06Rik |
| MMRRC Submission |
040088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R2083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92624257-92667318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92660770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 13
(D13G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022217]
|
| AlphaFold |
Q80U44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022217
AA Change: D13G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: D13G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
580 |
N/A |
INTRINSIC |
|
FYVE
|
727 |
794 |
7.25e-31 |
SMART |
|
low complexity region
|
821 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1063 |
N/A |
INTRINSIC |
|
Pfam:DUF3480
|
1155 |
1503 |
3.3e-169 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154850
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
A |
5: 146,121,681 (GRCm39) |
M73L |
possibly damaging |
Het |
| AA986860 |
A |
T |
1: 130,668,806 (GRCm39) |
I58F |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,677,528 (GRCm39) |
K507N |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,223,512 (GRCm39) |
Y245H |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,455,547 (GRCm39) |
S392P |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,988,921 (GRCm39) |
P3402S |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,596,945 (GRCm39) |
I12N |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,103,250 (GRCm39) |
T545A |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,922,069 (GRCm39) |
A638S |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,574,575 (GRCm39) |
S520P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,733 (GRCm39) |
D1821G |
unknown |
Het |
| Cyp4a10 |
T |
C |
4: 115,382,505 (GRCm39) |
V265A |
possibly damaging |
Het |
| Dmrtb1 |
C |
T |
4: 107,540,809 (GRCm39) |
R184Q |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,280,227 (GRCm39) |
I2719F |
possibly damaging |
Het |
| En2 |
T |
C |
5: 28,372,071 (GRCm39) |
S183P |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,105,924 (GRCm39) |
T101A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,748,360 (GRCm39) |
S364T |
probably damaging |
Het |
| Gm17728 |
C |
A |
17: 9,641,121 (GRCm39) |
S77Y |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,361,658 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,688,416 (GRCm39) |
N227S |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,141 (GRCm39) |
D61G |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,112 (GRCm39) |
N784K |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,389 (GRCm39) |
T173A |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,830,168 (GRCm39) |
C41S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,963 (GRCm39) |
L444P |
possibly damaging |
Het |
| Mkx |
A |
T |
18: 6,992,855 (GRCm39) |
I143K |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,815 (GRCm39) |
F124L |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,046 (GRCm39) |
L68H |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,964,457 (GRCm39) |
Y726* |
probably null |
Het |
| Or4f59 |
C |
T |
2: 111,872,898 (GRCm39) |
V160I |
probably benign |
Het |
| Or8d1 |
T |
G |
9: 38,766,637 (GRCm39) |
V93G |
probably benign |
Het |
| Peak1 |
G |
A |
9: 56,166,233 (GRCm39) |
S565L |
probably damaging |
Het |
| Pter |
T |
A |
2: 12,983,247 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,615,489 (GRCm39) |
L555P |
possibly damaging |
Het |
| Rpp40 |
A |
T |
13: 36,082,975 (GRCm39) |
M171K |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,955 (GRCm39) |
I2000M |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,189 (GRCm39) |
I1458V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,906,874 (GRCm39) |
D288G |
probably benign |
Het |
| Slc8a2 |
T |
G |
7: 15,868,440 (GRCm39) |
V224G |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,681 (GRCm39) |
E173G |
probably benign |
Het |
| Tas1r1 |
T |
A |
4: 152,112,848 (GRCm39) |
H735L |
probably benign |
Het |
| Trps1 |
G |
T |
15: 50,685,701 (GRCm39) |
Q155K |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,686,892 (GRCm39) |
H351R |
probably damaging |
Het |
| Ttf2 |
A |
T |
3: 100,876,817 (GRCm39) |
D21E |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,635,859 (GRCm39) |
R398G |
possibly damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,579 (GRCm39) |
Y148N |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,325 (GRCm39) |
H125Q |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,223 (GRCm39) |
T2794A |
possibly damaging |
Het |
| Zfp27 |
T |
C |
7: 29,594,208 (GRCm39) |
I586V |
probably benign |
Het |
|
| Other mutations in Zfyve16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Zfyve16
|
APN |
13 |
92,653,046 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL00737:Zfyve16
|
APN |
13 |
92,657,626 (GRCm39) |
nonsense |
probably null |
|
|
IGL00741:Zfyve16
|
APN |
13 |
92,660,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00753:Zfyve16
|
APN |
13 |
92,657,626 (GRCm39) |
nonsense |
probably null |
|
|
IGL01123:Zfyve16
|
APN |
13 |
92,629,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01149:Zfyve16
|
APN |
13 |
92,644,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01414:Zfyve16
|
APN |
13 |
92,658,704 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01771:Zfyve16
|
APN |
13 |
92,658,680 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01889:Zfyve16
|
APN |
13 |
92,659,077 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01928:Zfyve16
|
APN |
13 |
92,641,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02524:Zfyve16
|
APN |
13 |
92,641,022 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03102:Zfyve16
|
APN |
13 |
92,648,325 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03192:Zfyve16
|
APN |
13 |
92,657,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4151001:Zfyve16
|
UTSW |
13 |
92,657,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0321:Zfyve16
|
UTSW |
13 |
92,629,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0548:Zfyve16
|
UTSW |
13 |
92,631,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0555:Zfyve16
|
UTSW |
13 |
92,653,028 (GRCm39) |
splice site |
probably benign |
|
|
R0616:Zfyve16
|
UTSW |
13 |
92,657,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Zfyve16
|
UTSW |
13 |
92,630,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0730:Zfyve16
|
UTSW |
13 |
92,657,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1221:Zfyve16
|
UTSW |
13 |
92,644,813 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1297:Zfyve16
|
UTSW |
13 |
92,658,840 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1597:Zfyve16
|
UTSW |
13 |
92,644,755 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1635:Zfyve16
|
UTSW |
13 |
92,645,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Zfyve16
|
UTSW |
13 |
92,640,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Zfyve16
|
UTSW |
13 |
92,648,033 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1962:Zfyve16
|
UTSW |
13 |
92,659,252 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2029:Zfyve16
|
UTSW |
13 |
92,640,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2122:Zfyve16
|
UTSW |
13 |
92,655,991 (GRCm39) |
nonsense |
probably null |
|
|
R2173:Zfyve16
|
UTSW |
13 |
92,631,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3822:Zfyve16
|
UTSW |
13 |
92,657,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3857:Zfyve16
|
UTSW |
13 |
92,631,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Zfyve16
|
UTSW |
13 |
92,650,271 (GRCm39) |
splice site |
probably null |
|
|
R4056:Zfyve16
|
UTSW |
13 |
92,641,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4495:Zfyve16
|
UTSW |
13 |
92,625,075 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4518:Zfyve16
|
UTSW |
13 |
92,657,820 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4835:Zfyve16
|
UTSW |
13 |
92,658,693 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4862:Zfyve16
|
UTSW |
13 |
92,644,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Zfyve16
|
UTSW |
13 |
92,650,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Zfyve16
|
UTSW |
13 |
92,642,197 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5344:Zfyve16
|
UTSW |
13 |
92,658,096 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5358:Zfyve16
|
UTSW |
13 |
92,644,771 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5407:Zfyve16
|
UTSW |
13 |
92,636,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Zfyve16
|
UTSW |
13 |
92,657,739 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5704:Zfyve16
|
UTSW |
13 |
92,640,979 (GRCm39) |
splice site |
probably null |
|
|
R5731:Zfyve16
|
UTSW |
13 |
92,644,701 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5808:Zfyve16
|
UTSW |
13 |
92,631,563 (GRCm39) |
nonsense |
probably null |
|
|
R5828:Zfyve16
|
UTSW |
13 |
92,650,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Zfyve16
|
UTSW |
13 |
92,658,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6044:Zfyve16
|
UTSW |
13 |
92,659,174 (GRCm39) |
nonsense |
probably null |
|
|
R6141:Zfyve16
|
UTSW |
13 |
92,648,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6538:Zfyve16
|
UTSW |
13 |
92,641,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Zfyve16
|
UTSW |
13 |
92,650,326 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6767:Zfyve16
|
UTSW |
13 |
92,644,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Zfyve16
|
UTSW |
13 |
92,653,139 (GRCm39) |
missense |
probably benign |
|
|
R7011:Zfyve16
|
UTSW |
13 |
92,658,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7381:Zfyve16
|
UTSW |
13 |
92,657,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Zfyve16
|
UTSW |
13 |
92,659,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7617:Zfyve16
|
UTSW |
13 |
92,641,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Zfyve16
|
UTSW |
13 |
92,658,836 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8127:Zfyve16
|
UTSW |
13 |
92,642,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8382:Zfyve16
|
UTSW |
13 |
92,650,328 (GRCm39) |
missense |
probably benign |
|
|
R8467:Zfyve16
|
UTSW |
13 |
92,644,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Zfyve16
|
UTSW |
13 |
92,658,055 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8792:Zfyve16
|
UTSW |
13 |
92,659,669 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9112:Zfyve16
|
UTSW |
13 |
92,659,563 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9169:Zfyve16
|
UTSW |
13 |
92,657,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Zfyve16
|
UTSW |
13 |
92,636,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Zfyve16
|
UTSW |
13 |
92,636,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9636:Zfyve16
|
UTSW |
13 |
92,631,456 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9669:Zfyve16
|
UTSW |
13 |
92,656,007 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9685:Zfyve16
|
UTSW |
13 |
92,659,311 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1176:Zfyve16
|
UTSW |
13 |
92,629,171 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Zfyve16
|
UTSW |
13 |
92,659,504 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTTCCTAACTTCATTCTGAGG -3'
(R):5'- CCCCATACAATAGCTTGTGTACAG -3'
Sequencing Primer
(F):5'- AGCGCTCTATCAATTTGTTTTTAGC -3'
(R):5'- ACAATAGCTTGTGTACAGATGTTGTG -3'
|
| Genotyping |
R2083:Zfyve16 genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
PCR Primers
R2083:Zfyve16(F): 5’- CACATTTCCTAACTTCATTCTGAGG-3’
R2083:Zfyve16(R): 5’- CCCCATACAATAGCTTGTGTACAG-3’ Sequencing Primers
R2083:Zfyve16_seq(F): 5’- AGCGCTCTATCAATTTGTTTTTAGC-3’
R2083:Zfyve16_seq(R): 5’- ACAATAGCTTGTGTACAGATGTTGTG-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C ∞ The following sequence of 604 nucleotides is amplified (Chr.13: 92523949-92524552, GRCm38; NC_000079): cacatttcct aacttcattc tgaggaaata ctatctctta cagaaatgac ttttcatttt
atagcgctct atcaatttgt ttttagcttc ttcataaagt tcttctaagc ttgtatctac
aaagtaactt ttatttctga ctattgatct tactggtgta aaaataagtt aatatgttat
aatgaaacag gcacattttt gagagaacat aacgacggga ccaagattga aatcaaattt
tgttaagggg acattttagc aaagtagaaa aaccaacaaa cctggattct gctcaaaatc
atcaagaagt ttgtccaagc cactgacagc tgctttaaag taactgtcca tcctccctgt
gggcttactc agaactcaat tcttctatgt ctagaaaatt aaaagtataa tattatattt
acttttctac catacaaata ttataccatc catcctgtac catataacta tcaaagtaga
aacaaaaata aaattaaaca gtgtttcttt ttcataactt agatagaaaa atggtctcta
catgaaaatg acataaaagt caacttttac aacacaacat ctgtacacaa gctattgtat
gggg FASTA sequence Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (T>C, Chr.+ strand; A>G, sense strand).
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| Posted On |
2014-09-18 |
Incidental Mutation