Incidental Mutation 'IGL02586:Phf2'
| ID |
299566 |
| 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 # |
IGL02586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 48967334 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
| Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
| Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
| Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
| Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
| Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
| Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
| Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
| Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
| Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
| Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,811,261 (GRCm39) |
|
probably benign |
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 |
|
|
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