Incidental Mutation 'IGL01071:Phf20'
| ID |
50417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf20
|
| Ensembl Gene |
ENSMUSG00000038116 |
| Gene Name |
PHD finger protein 20 |
| Synonyms |
6820402O20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
IGL01071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 156136008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037401
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
11 |
71 |
5.27e0 |
SMART |
|
TUDOR
|
85 |
141 |
7.13e-4 |
SMART |
|
AT_hook
|
257 |
269 |
1.65e0 |
SMART |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
455 |
480 |
1.86e0 |
SMART |
|
low complexity region
|
486 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
|
PHD
|
657 |
701 |
2.83e-4 |
SMART |
|
coiled coil region
|
945 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
| Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
| Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
| Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
| Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
| Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
| Psmd14 |
A |
G |
2: 61,630,407 (GRCm39) |
T306A |
probably benign |
Het |
| Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
| Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
| Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
| Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
| Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
Het |
|
| Other mutations in Phf20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Phf20
|
APN |
2 |
156,146,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01125:Phf20
|
APN |
2 |
156,145,104 (GRCm39) |
splice site |
probably null |
|
|
IGL01608:Phf20
|
APN |
2 |
156,118,516 (GRCm39) |
missense |
probably benign |
|
|
IGL01610:Phf20
|
APN |
2 |
156,144,809 (GRCm39) |
nonsense |
probably null |
|
|
IGL01845:Phf20
|
APN |
2 |
156,118,577 (GRCm39) |
nonsense |
probably null |
|
|
IGL02364:Phf20
|
APN |
2 |
156,136,017 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02692:Phf20
|
APN |
2 |
156,140,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Phf20
|
APN |
2 |
156,140,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Phf20
|
UTSW |
2 |
156,109,114 (GRCm39) |
nonsense |
probably null |
|
|
R0189:Phf20
|
UTSW |
2 |
156,145,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1532:Phf20
|
UTSW |
2 |
156,144,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1572:Phf20
|
UTSW |
2 |
156,129,754 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2007:Phf20
|
UTSW |
2 |
156,129,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2191:Phf20
|
UTSW |
2 |
156,118,574 (GRCm39) |
missense |
probably benign |
|
|
R3011:Phf20
|
UTSW |
2 |
156,129,946 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3024:Phf20
|
UTSW |
2 |
156,129,787 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4242:Phf20
|
UTSW |
2 |
156,149,374 (GRCm39) |
unclassified |
probably benign |
|
|
R5053:Phf20
|
UTSW |
2 |
156,115,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5089:Phf20
|
UTSW |
2 |
156,144,782 (GRCm39) |
missense |
probably benign |
|
|
R5382:Phf20
|
UTSW |
2 |
156,109,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Phf20
|
UTSW |
2 |
156,093,688 (GRCm39) |
splice site |
probably null |
|
|
R5707:Phf20
|
UTSW |
2 |
156,138,691 (GRCm39) |
splice site |
probably null |
|
|
R5751:Phf20
|
UTSW |
2 |
156,109,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5805:Phf20
|
UTSW |
2 |
156,149,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5988:Phf20
|
UTSW |
2 |
156,149,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Phf20
|
UTSW |
2 |
156,140,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Phf20
|
UTSW |
2 |
156,065,320 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6338:Phf20
|
UTSW |
2 |
156,115,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6351:Phf20
|
UTSW |
2 |
156,136,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6584:Phf20
|
UTSW |
2 |
156,136,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7248:Phf20
|
UTSW |
2 |
156,135,331 (GRCm39) |
splice site |
probably null |
|
|
R7329:Phf20
|
UTSW |
2 |
156,146,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7387:Phf20
|
UTSW |
2 |
156,136,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Phf20
|
UTSW |
2 |
156,144,928 (GRCm39) |
nonsense |
probably null |
|
|
R7603:Phf20
|
UTSW |
2 |
156,144,771 (GRCm39) |
missense |
probably benign |
|
|
R7698:Phf20
|
UTSW |
2 |
156,136,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Phf20
|
UTSW |
2 |
156,129,858 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7968:Phf20
|
UTSW |
2 |
156,135,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8415:Phf20
|
UTSW |
2 |
156,129,913 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8843:Phf20
|
UTSW |
2 |
156,144,843 (GRCm39) |
missense |
probably benign |
|
|
R8849:Phf20
|
UTSW |
2 |
156,118,440 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9168:Phf20
|
UTSW |
2 |
156,109,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9180:Phf20
|
UTSW |
2 |
156,114,537 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9286:Phf20
|
UTSW |
2 |
156,134,470 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9297:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
|
R9318:Phf20
|
UTSW |
2 |
156,115,690 (GRCm39) |
missense |
probably benign |
|
|
R9414:Phf20
|
UTSW |
2 |
156,136,167 (GRCm39) |
missense |
probably benign |
0.38 |
|
RF011:Phf20
|
UTSW |
2 |
156,146,541 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF011:Phf20
|
UTSW |
2 |
156,146,540 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF028:Phf20
|
UTSW |
2 |
156,146,543 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1190:Phf20
|
UTSW |
2 |
156,129,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation