Incidental Mutation 'IGL02456:Phf2'
| ID |
294180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf2
|
| Ensembl Gene |
ENSMUSG00000038025 |
| Gene Name |
PHD finger protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
IGL02456
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48982322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 134
(G134C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
| AlphaFold |
Q9WTU0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035540
AA Change: G134C
|
| SMART Domains |
Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: G134C
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
7 |
54 |
1.08e-9 |
SMART |
|
JmjC
|
197 |
353 |
1.98e-47 |
SMART |
|
low complexity region
|
468 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
891 |
N/A |
INTRINSIC |
|
coiled coil region
|
924 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
1021 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body weight, decreased adipocity and impaired adipogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,302,584 (GRCm39) |
Y174* |
probably null |
Het |
| Apc |
C |
A |
18: 34,446,935 (GRCm39) |
S1243* |
probably null |
Het |
| Atp8b5 |
A |
G |
4: 43,365,578 (GRCm39) |
T731A |
probably benign |
Het |
| Bcl2a1c |
T |
A |
9: 114,159,458 (GRCm39) |
F79I |
probably damaging |
Het |
| Brip1 |
G |
T |
11: 85,955,925 (GRCm39) |
L863I |
possibly damaging |
Het |
| Cbx4 |
T |
A |
11: 118,972,938 (GRCm39) |
K146* |
probably null |
Het |
| Ces1a |
C |
T |
8: 93,766,126 (GRCm39) |
V163I |
possibly damaging |
Het |
| Ces5a |
C |
T |
8: 94,255,272 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
C |
1: 139,484,131 (GRCm39) |
N128K |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,394,391 (GRCm39) |
D46G |
probably damaging |
Het |
| Cntnap1 |
T |
G |
11: 101,068,955 (GRCm39) |
I166S |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,946,872 (GRCm39) |
|
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,714,739 (GRCm39) |
|
probably benign |
Het |
| Ddx23 |
A |
T |
15: 98,545,430 (GRCm39) |
V626E |
probably damaging |
Het |
| Dele1 |
T |
A |
18: 38,394,177 (GRCm39) |
L458Q |
probably damaging |
Het |
| Gcm2 |
T |
C |
13: 41,256,477 (GRCm39) |
Y424C |
probably benign |
Het |
| Gm9964 |
A |
G |
11: 79,187,196 (GRCm39) |
F84L |
probably damaging |
Het |
| Grn |
T |
A |
11: 102,326,930 (GRCm39) |
D509E |
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,283,820 (GRCm39) |
T208K |
probably benign |
Het |
| Kdm5c |
G |
A |
X: 151,029,314 (GRCm39) |
D343N |
probably damaging |
Het |
| Ly75 |
C |
T |
2: 60,124,125 (GRCm39) |
M1717I |
probably benign |
Het |
| Map1a |
C |
A |
2: 121,129,134 (GRCm39) |
P133T |
probably damaging |
Het |
| Mpp2 |
C |
A |
11: 101,950,199 (GRCm39) |
A552S |
possibly damaging |
Het |
| Mtr |
T |
C |
13: 12,213,980 (GRCm39) |
I897M |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,095,550 (GRCm39) |
I337F |
probably damaging |
Het |
| Nup85 |
T |
C |
11: 115,472,691 (GRCm39) |
|
probably benign |
Het |
| Or10a49 |
A |
G |
7: 108,468,257 (GRCm39) |
Y35H |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,983,340 (GRCm39) |
M142K |
possibly damaging |
Het |
| Or2t46 |
T |
A |
11: 58,472,024 (GRCm39) |
L118H |
possibly damaging |
Het |
| Or51l4 |
T |
A |
7: 103,404,700 (GRCm39) |
I31F |
possibly damaging |
Het |
| Or56a5 |
T |
C |
7: 104,792,966 (GRCm39) |
N178S |
probably damaging |
Het |
| Pdia4 |
A |
T |
6: 47,780,429 (GRCm39) |
D301E |
probably benign |
Het |
| Polr2h |
T |
A |
16: 20,539,352 (GRCm39) |
L76H |
probably damaging |
Het |
| Rbm47 |
G |
A |
5: 66,184,364 (GRCm39) |
R80C |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,507,837 (GRCm39) |
S286P |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,447,179 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,991 (GRCm39) |
S1559P |
probably benign |
Het |
| Tbc1d16 |
T |
G |
11: 119,101,372 (GRCm39) |
H46P |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,440,475 (GRCm39) |
|
probably benign |
Het |
| Tmtc4 |
A |
T |
14: 123,163,374 (GRCm39) |
|
probably null |
Het |
| Ttc13 |
T |
C |
8: 125,417,100 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
T |
C |
2: 94,193,130 (GRCm39) |
|
probably benign |
Het |
| Vmn1r121 |
T |
A |
7: 20,832,438 (GRCm39) |
M1L |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,860,258 (GRCm39) |
S2825P |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,445,106 (GRCm39) |
S1718A |
unknown |
Het |
| Zfp39 |
G |
T |
11: 58,793,626 (GRCm39) |
Y37* |
probably null |
Het |
| Zfp407 |
T |
C |
18: 84,576,766 (GRCm39) |
N1449S |
probably damaging |
Het |
| Zhx2 |
C |
A |
15: 57,687,035 (GRCm39) |
D801E |
possibly damaging |
Het |
|
| Other mutations in Phf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Phf2
|
APN |
13 |
48,973,083 (GRCm39) |
missense |
unknown |
|
|
IGL01554:Phf2
|
APN |
13 |
48,959,355 (GRCm39) |
nonsense |
probably null |
|
|
IGL02063:Phf2
|
APN |
13 |
48,975,118 (GRCm39) |
missense |
unknown |
|
|
IGL02498:Phf2
|
APN |
13 |
48,958,715 (GRCm39) |
missense |
unknown |
|
|
IGL02586:Phf2
|
APN |
13 |
48,967,334 (GRCm39) |
splice site |
probably benign |
|
|
IGL02688:Phf2
|
APN |
13 |
48,959,315 (GRCm39) |
missense |
unknown |
|
|
H8441:Phf2
|
UTSW |
13 |
48,957,841 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0265:Phf2
|
UTSW |
13 |
48,982,270 (GRCm39) |
missense |
unknown |
|
|
R0389:Phf2
|
UTSW |
13 |
48,957,965 (GRCm39) |
missense |
unknown |
|
|
R0535:Phf2
|
UTSW |
13 |
48,967,423 (GRCm39) |
missense |
unknown |
|
|
R1162:Phf2
|
UTSW |
13 |
48,973,117 (GRCm39) |
splice site |
probably benign |
|
|
R1342:Phf2
|
UTSW |
13 |
48,957,953 (GRCm39) |
missense |
unknown |
|
|
R1551:Phf2
|
UTSW |
13 |
48,985,579 (GRCm39) |
missense |
unknown |
|
|
R1551:Phf2
|
UTSW |
13 |
48,957,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Phf2
|
UTSW |
13 |
48,985,589 (GRCm39) |
missense |
unknown |
|
|
R1698:Phf2
|
UTSW |
13 |
48,961,106 (GRCm39) |
missense |
unknown |
|
|
R1766:Phf2
|
UTSW |
13 |
48,973,033 (GRCm39) |
missense |
unknown |
|
|
R1785:Phf2
|
UTSW |
13 |
48,971,043 (GRCm39) |
missense |
unknown |
|
|
R1997:Phf2
|
UTSW |
13 |
48,982,384 (GRCm39) |
missense |
unknown |
|
|
R2034:Phf2
|
UTSW |
13 |
48,971,206 (GRCm39) |
missense |
unknown |
|
|
R2096:Phf2
|
UTSW |
13 |
48,985,589 (GRCm39) |
nonsense |
probably null |
|
|
R2147:Phf2
|
UTSW |
13 |
48,958,165 (GRCm39) |
missense |
unknown |
|
|
R2149:Phf2
|
UTSW |
13 |
48,958,165 (GRCm39) |
missense |
unknown |
|
|
R2154:Phf2
|
UTSW |
13 |
48,973,549 (GRCm39) |
missense |
unknown |
|
|
R2296:Phf2
|
UTSW |
13 |
48,988,754 (GRCm39) |
missense |
unknown |
|
|
R4212:Phf2
|
UTSW |
13 |
48,974,089 (GRCm39) |
missense |
unknown |
|
|
R4749:Phf2
|
UTSW |
13 |
48,975,185 (GRCm39) |
splice site |
probably null |
|
|
R4770:Phf2
|
UTSW |
13 |
48,957,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Phf2
|
UTSW |
13 |
48,961,198 (GRCm39) |
missense |
unknown |
|
|
R4989:Phf2
|
UTSW |
13 |
48,961,320 (GRCm39) |
missense |
unknown |
|
|
R5792:Phf2
|
UTSW |
13 |
48,973,518 (GRCm39) |
splice site |
probably null |
|
|
R5848:Phf2
|
UTSW |
13 |
48,973,546 (GRCm39) |
missense |
unknown |
|
|
R6092:Phf2
|
UTSW |
13 |
48,969,533 (GRCm39) |
missense |
unknown |
|
|
R6165:Phf2
|
UTSW |
13 |
48,967,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6192:Phf2
|
UTSW |
13 |
48,973,583 (GRCm39) |
missense |
unknown |
|
|
R6237:Phf2
|
UTSW |
13 |
48,957,131 (GRCm39) |
nonsense |
probably null |
|
|
R6249:Phf2
|
UTSW |
13 |
48,959,348 (GRCm39) |
missense |
unknown |
|
|
R6489:Phf2
|
UTSW |
13 |
48,979,658 (GRCm39) |
missense |
unknown |
|
|
R7616:Phf2
|
UTSW |
13 |
48,961,083 (GRCm39) |
missense |
unknown |
|
|
R8058:Phf2
|
UTSW |
13 |
48,976,558 (GRCm39) |
missense |
unknown |
|
|
R8158:Phf2
|
UTSW |
13 |
48,971,236 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8186:Phf2
|
UTSW |
13 |
48,961,227 (GRCm39) |
missense |
unknown |
|
|
R8218:Phf2
|
UTSW |
13 |
48,958,104 (GRCm39) |
missense |
unknown |
|
|
R8237:Phf2
|
UTSW |
13 |
48,976,514 (GRCm39) |
missense |
unknown |
|
|
R8431:Phf2
|
UTSW |
13 |
48,975,078 (GRCm39) |
missense |
unknown |
|
|
R8496:Phf2
|
UTSW |
13 |
48,971,181 (GRCm39) |
missense |
unknown |
|
|
R8774:Phf2
|
UTSW |
13 |
48,971,878 (GRCm39) |
splice site |
probably benign |
|
|
R8786:Phf2
|
UTSW |
13 |
48,967,219 (GRCm39) |
missense |
unknown |
|
|
R8792:Phf2
|
UTSW |
13 |
48,970,981 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9505:Phf2
|
UTSW |
13 |
48,957,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Phf2
|
UTSW |
13 |
48,971,292 (GRCm39) |
missense |
unknown |
|
|
R9644:Phf2
|
UTSW |
13 |
49,024,218 (GRCm39) |
nonsense |
probably null |
|
|
R9704:Phf2
|
UTSW |
13 |
48,959,374 (GRCm39) |
missense |
unknown |
|
|
R9778:Phf2
|
UTSW |
13 |
48,973,101 (GRCm39) |
missense |
unknown |
|
|
V1024:Phf2
|
UTSW |
13 |
48,957,841 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0027:Phf2
|
UTSW |
13 |
48,985,594 (GRCm39) |
missense |
unknown |
|
|
Z1176:Phf2
|
UTSW |
13 |
48,961,183 (GRCm39) |
missense |
unknown |
|
|
Z1177:Phf2
|
UTSW |
13 |
48,958,069 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation