Incidental Mutation 'IGL02692:Phf20'
| ID |
303799 |
| 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 # |
IGL02692
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156038567-156151873 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156140498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 724
(M724K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037401]
|
| AlphaFold |
Q8BLG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037401
AA Change: M724K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
AA Change: M724K
| 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: 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
C |
10: 100,439,410 (GRCm39) |
S72R |
probably benign |
Het |
| 4930544G11Rik |
T |
C |
6: 65,929,792 (GRCm39) |
V9A |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,806,507 (GRCm39) |
N277D |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,311,536 (GRCm39) |
I57F |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,614,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,089 (GRCm39) |
I64V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,021,871 (GRCm39) |
V651A |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,482 (GRCm39) |
N163D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,187,272 (GRCm39) |
R708C |
probably damaging |
Het |
| Capza2 |
C |
T |
6: 17,654,115 (GRCm39) |
Q56* |
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,794,738 (GRCm39) |
H824Q |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,875,623 (GRCm39) |
P1106S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,005,235 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Grk2 |
A |
T |
19: 4,340,716 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,155 (GRCm39) |
V13I |
possibly damaging |
Het |
| Loxhd1 |
G |
T |
18: 77,444,609 (GRCm39) |
C336F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,330,596 (GRCm39) |
F355L |
probably null |
Het |
| Mov10 |
C |
A |
3: 104,708,119 (GRCm39) |
E503* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,640,642 (GRCm39) |
|
probably null |
Het |
| Or2w3b |
A |
G |
11: 58,623,343 (GRCm39) |
V216A |
probably benign |
Het |
| Pla2g2e |
G |
T |
4: 138,609,870 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,989 (GRCm39) |
V772E |
probably damaging |
Het |
| Rhoh |
A |
G |
5: 66,050,143 (GRCm39) |
R138G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Septin7 |
A |
G |
9: 25,207,786 (GRCm39) |
|
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,974,665 (GRCm39) |
F163V |
probably damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,205,861 (GRCm39) |
F442Y |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,551,049 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,139,100 (GRCm39) |
F236S |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,817,197 (GRCm39) |
K130E |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,022,855 (GRCm39) |
E156G |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,825 (GRCm39) |
V325I |
unknown |
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 |
|
|
IGL02364:Phf20
|
APN |
2 |
156,136,017 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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