Incidental Mutation 'IGL02364:Phf20'
| ID |
290657 |
| 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: 0.909)
|
| Stock # |
IGL02364
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156136017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 612
(E612G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037401
AA Change: E612G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: E612G
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdp1 |
A |
T |
13: 100,191,816 (GRCm39) |
|
probably benign |
Het |
| Car8 |
T |
C |
4: 8,183,321 (GRCm39) |
I225V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,892,792 (GRCm39) |
N1390K |
probably damaging |
Het |
| Coasy |
T |
C |
11: 100,975,184 (GRCm39) |
V247A |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,310 (GRCm39) |
V50A |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,593,931 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,301,127 (GRCm39) |
A2328V |
probably benign |
Het |
| Exoc3l |
C |
A |
8: 106,017,209 (GRCm39) |
V593L |
possibly damaging |
Het |
| Eya3 |
T |
C |
4: 132,437,366 (GRCm39) |
S409P |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,713 (GRCm39) |
N310S |
probably benign |
Het |
| Gbp4 |
A |
T |
5: 105,284,740 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm5885 |
A |
G |
6: 133,507,092 (GRCm39) |
|
noncoding transcript |
Het |
| H2ap |
G |
T |
X: 9,713,629 (GRCm39) |
|
probably benign |
Het |
| Igkv12-89 |
A |
T |
6: 68,811,970 (GRCm39) |
Y66* |
probably null |
Het |
| Itgax |
G |
A |
7: 127,739,154 (GRCm39) |
V601M |
possibly damaging |
Het |
| Kank3 |
T |
C |
17: 34,037,824 (GRCm39) |
V291A |
probably benign |
Het |
| Klhl9 |
A |
G |
4: 88,639,407 (GRCm39) |
M278T |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,639,275 (GRCm39) |
D435N |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,188,851 (GRCm39) |
S292T |
probably damaging |
Het |
| Mchr1 |
G |
A |
15: 81,121,480 (GRCm39) |
V77I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,186,266 (GRCm39) |
Y935* |
probably null |
Het |
| Nt5el |
T |
A |
13: 105,218,808 (GRCm39) |
D47E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,271,007 (GRCm39) |
L3182P |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,986,667 (GRCm39) |
V337A |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,923,117 (GRCm39) |
|
noncoding transcript |
Het |
| Sorcs1 |
G |
A |
19: 50,322,036 (GRCm39) |
P249L |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,928,723 (GRCm39) |
R94C |
probably damaging |
Het |
| Stk38 |
C |
T |
17: 29,210,390 (GRCm39) |
R63Q |
probably benign |
Het |
| Tmem220 |
C |
A |
11: 66,925,014 (GRCm39) |
H174N |
probably benign |
Het |
| Tmem68 |
C |
A |
4: 3,560,536 (GRCm39) |
R216L |
probably damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,599 (GRCm39) |
V143M |
probably benign |
Het |
| Ubqln2 |
T |
C |
X: 152,282,906 (GRCm39) |
L486P |
possibly damaging |
Het |
| Usp17le |
G |
A |
7: 104,417,982 (GRCm39) |
Q387* |
probably null |
Het |
| Vps33b |
A |
G |
7: 79,937,587 (GRCm39) |
E445G |
probably damaging |
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 |
|
|
IGL01071:Phf20
|
APN |
2 |
156,136,008 (GRCm39) |
splice 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation