Incidental Mutation 'R4518:Zfyve16'
| ID |
334088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve16
|
| Ensembl Gene |
ENSMUSG00000021706 |
| Gene Name |
zinc finger, FYVE domain containing 16 |
| Synonyms |
B130024H06Rik |
| MMRRC Submission |
041762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R4518 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92624257-92667318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92657820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 697
(E697G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022217]
|
| AlphaFold |
Q80U44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022217
AA Change: E697G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022217
Gene: ENSMUSG00000021706
AA Change: E697G
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156586
|
| Meta Mutation Damage Score |
0.0615 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (60/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
T |
A |
5: 30,311,006 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,363,344 (GRCm39) |
S167P |
possibly damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,985,559 (GRCm39) |
L481P |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,968,704 (GRCm39) |
A827V |
possibly damaging |
Het |
| Carns1 |
T |
G |
19: 4,220,069 (GRCm39) |
T389P |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,857,264 (GRCm39) |
N311S |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Chpf |
G |
T |
1: 75,451,689 (GRCm39) |
S588R |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,514,466 (GRCm39) |
T414S |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,038,986 (GRCm39) |
E1092G |
probably damaging |
Het |
| Crb2 |
C |
A |
2: 37,680,401 (GRCm39) |
T443K |
probably damaging |
Het |
| Crppa |
G |
A |
12: 36,523,179 (GRCm39) |
V203I |
possibly damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,121,473 (GRCm39) |
V25A |
probably damaging |
Het |
| Cyb561d1 |
T |
C |
3: 108,106,887 (GRCm39) |
I111V |
possibly damaging |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Dnajb4 |
T |
C |
3: 151,890,813 (GRCm39) |
I329V |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,823,274 (GRCm39) |
D1055E |
probably benign |
Het |
| Fam168a |
C |
T |
7: 100,483,247 (GRCm39) |
A176V |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,548,363 (GRCm39) |
E1016G |
probably benign |
Het |
| Fibcd1 |
A |
T |
2: 31,707,207 (GRCm39) |
V350E |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,749,625 (GRCm39) |
E3076K |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,507 (GRCm39) |
|
probably null |
Het |
| Hcn2 |
T |
C |
10: 79,560,536 (GRCm39) |
V289A |
probably benign |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Klf14 |
A |
G |
6: 30,934,867 (GRCm39) |
S256P |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,230,489 (GRCm39) |
T1214S |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,328,055 (GRCm39) |
D666V |
possibly damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,263 (GRCm39) |
M150V |
probably benign |
Het |
| Or7d9 |
A |
G |
9: 20,197,546 (GRCm39) |
I184V |
probably benign |
Het |
| Or7g27 |
T |
A |
9: 19,250,556 (GRCm39) |
S267T |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,024,289 (GRCm39) |
D360G |
probably benign |
Het |
| Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
| Pdss2 |
T |
A |
10: 43,248,146 (GRCm39) |
S217T |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,329,085 (GRCm39) |
T520K |
possibly damaging |
Het |
| Prokr2 |
T |
A |
2: 132,216,012 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Reln |
T |
C |
5: 22,106,741 (GRCm39) |
I3210V |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,300,922 (GRCm39) |
Y218H |
probably damaging |
Het |
| Slc41a1 |
T |
C |
1: 131,766,863 (GRCm39) |
V127A |
probably damaging |
Het |
| St8sia6 |
T |
A |
2: 13,797,562 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Trmt1l |
C |
T |
1: 151,324,094 (GRCm39) |
Q314* |
probably null |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,743,124 (GRCm39) |
V445M |
possibly damaging |
Het |
| Ypel1 |
A |
T |
16: 16,913,905 (GRCm39) |
F173I |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,477,578 (GRCm39) |
C3398R |
probably damaging |
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 |
|
R2083:Zfyve16
|
UTSW |
13 |
92,660,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AATCCCCAGGACCATGGAAG -3'
(R):5'- AAGGGATGAATTGCCAGTCCC -3'
Sequencing Primer
(F):5'- TTCCCACATGCTCGGCAG -3'
(R):5'- CCAGTATTAAAACCCAAGCTGTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation