Incidental Mutation 'R1162:Phf2'
ID |
100499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf2
|
Ensembl Gene |
ENSMUSG00000038025 |
Gene Name |
PHD finger protein 2 |
Synonyms |
|
MMRRC Submission |
039235-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.294)
|
Stock # |
R1162 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 48973117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
AlphaFold |
Q9WTU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035540
|
SMART Domains |
Protein: ENSMUSP00000047308 Gene: ENSMUSG00000038025
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
Validation Efficiency |
98% (55/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430015G10Rik |
T |
C |
4: 156,206,875 (GRCm39) |
|
probably null |
Het |
Adamts12 |
T |
A |
15: 11,277,544 (GRCm39) |
|
probably null |
Het |
Ccn3 |
T |
A |
15: 54,611,178 (GRCm39) |
C104* |
probably null |
Het |
Cops4 |
T |
C |
5: 100,678,023 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dgkh |
A |
G |
14: 78,861,891 (GRCm39) |
C125R |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,774,789 (GRCm39) |
I65N |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,546,559 (GRCm39) |
H743L |
possibly damaging |
Het |
Dscaml1 |
T |
C |
9: 45,663,647 (GRCm39) |
|
probably benign |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,178,738 (GRCm39) |
|
probably benign |
Het |
Gm7275 |
A |
G |
16: 47,894,395 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch1 |
A |
G |
7: 35,002,905 (GRCm39) |
|
probably benign |
Het |
Gpr137c |
A |
G |
14: 45,481,615 (GRCm39) |
I144V |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,238,185 (GRCm39) |
S563P |
probably benign |
Het |
Insl5 |
C |
T |
4: 102,875,438 (GRCm39) |
R104Q |
probably benign |
Het |
Kcnj2 |
T |
A |
11: 110,963,793 (GRCm39) |
V395D |
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,693,020 (GRCm39) |
|
probably benign |
Het |
Lrrc4 |
C |
A |
6: 28,831,083 (GRCm39) |
L177F |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,855,799 (GRCm39) |
E1506G |
possibly damaging |
Het |
Morc3 |
A |
C |
16: 93,649,996 (GRCm39) |
Y259S |
probably damaging |
Het |
Mrpl43 |
T |
G |
19: 44,994,797 (GRCm39) |
S13R |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,149,439 (GRCm39) |
N1724D |
probably damaging |
Het |
Nab1 |
A |
G |
1: 52,529,186 (GRCm39) |
M237T |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,185,788 (GRCm39) |
|
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or2h15 |
A |
T |
17: 38,441,984 (GRCm39) |
V33D |
possibly damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,735 (GRCm39) |
R233G |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,230,120 (GRCm39) |
N307S |
probably benign |
Het |
Ppef2 |
A |
C |
5: 92,400,980 (GRCm39) |
F13L |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,781,226 (GRCm39) |
P130S |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,634,710 (GRCm39) |
|
probably benign |
Het |
Sec31b |
C |
A |
19: 44,506,087 (GRCm39) |
E940* |
probably null |
Het |
Sgce |
A |
G |
6: 4,691,419 (GRCm39) |
|
probably benign |
Het |
Sh3glb2 |
A |
T |
2: 30,240,600 (GRCm39) |
I155N |
probably damaging |
Het |
Sirt2 |
A |
T |
7: 28,485,247 (GRCm39) |
D218V |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,952,549 (GRCm39) |
H315R |
probably benign |
Het |
Sox5 |
A |
G |
6: 143,906,538 (GRCm39) |
Y306H |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tab2 |
A |
G |
10: 7,800,483 (GRCm39) |
V23A |
probably damaging |
Het |
Trak1 |
G |
T |
9: 121,282,407 (GRCm39) |
V429F |
possibly damaging |
Het |
Trat1 |
T |
C |
16: 48,560,572 (GRCm39) |
S102G |
possibly damaging |
Het |
Trub1 |
G |
A |
19: 57,461,191 (GRCm39) |
V156I |
probably benign |
Het |
Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
Unc13a |
T |
A |
8: 72,100,561 (GRCm39) |
T1076S |
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,832,414 (GRCm39) |
Y481H |
probably damaging |
Het |
Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,845,195 (GRCm39) |
I853F |
probably benign |
Het |
Yrdc |
T |
C |
4: 124,748,254 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
A |
T |
13: 67,465,259 (GRCm39) |
C335S |
probably damaging |
Het |
Zfp872 |
A |
G |
9: 22,110,910 (GRCm39) |
S149G |
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 |
|
IGL02456:Phf2
|
APN |
13 |
48,982,322 (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 |
|
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 |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |