Incidental Mutation 'R6237:Phf2'
| ID |
505016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf2
|
| Ensembl Gene |
ENSMUSG00000038025 |
| Gene Name |
PHD finger protein 2 |
| Synonyms |
|
| MMRRC Submission |
044362-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R6237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 48957131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1079
(K1079*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
| AlphaFold |
Q9WTU0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035540
AA Change: K1079*
|
| SMART Domains |
Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: K1079*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
G |
A |
8: 120,342,502 (GRCm39) |
R380H |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,325,767 (GRCm39) |
D109Y |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,033,582 (GRCm39) |
M1020L |
possibly damaging |
Het |
| Cbx8 |
C |
A |
11: 118,931,213 (GRCm39) |
R25L |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,407 (GRCm39) |
Y633C |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,484,752 (GRCm39) |
S505N |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,839,810 (GRCm39) |
H539L |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,999 (GRCm39) |
D47E |
probably benign |
Het |
| Dnah3 |
A |
C |
7: 119,608,607 (GRCm39) |
M1784R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,966,828 (GRCm39) |
L2520* |
probably null |
Het |
| E2f2 |
A |
G |
4: 135,905,796 (GRCm39) |
E103G |
possibly damaging |
Het |
| Eef1akmt3 |
T |
A |
10: 126,868,877 (GRCm39) |
H199L |
possibly damaging |
Het |
| Faxc |
A |
T |
4: 21,993,376 (GRCm39) |
N340I |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,497,026 (GRCm39) |
R1199* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,509,855 (GRCm39) |
D1439G |
probably damaging |
Het |
| Galnt5 |
G |
T |
2: 57,925,261 (GRCm39) |
W847C |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,337,793 (GRCm39) |
S303N |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,332 (GRCm39) |
K40* |
probably null |
Het |
| Gm4353 |
A |
C |
7: 115,683,134 (GRCm39) |
L149R |
possibly damaging |
Het |
| Grk5 |
A |
G |
19: 61,078,380 (GRCm39) |
D479G |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,471,486 (GRCm39) |
|
probably null |
Het |
| Hace1 |
T |
C |
10: 45,524,986 (GRCm39) |
Y251H |
probably benign |
Het |
| Hhla1 |
G |
T |
15: 65,813,646 (GRCm39) |
P229T |
probably damaging |
Het |
| Hspa1l |
C |
T |
17: 35,196,428 (GRCm39) |
Q156* |
probably null |
Het |
| Igkv4-78 |
A |
T |
6: 69,036,683 (GRCm39) |
Y117N |
probably benign |
Het |
| Ikzf3 |
C |
A |
11: 98,357,879 (GRCm39) |
R486L |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,355,164 (GRCm39) |
T485M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,219,401 (GRCm39) |
Y131H |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,362 (GRCm39) |
P209L |
probably benign |
Het |
| Klk1b8 |
T |
A |
7: 43,448,094 (GRCm39) |
C39* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,255,700 (GRCm39) |
L519P |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,495,673 (GRCm39) |
I287T |
probably damaging |
Het |
| Mindy2 |
T |
C |
9: 70,512,480 (GRCm39) |
E590G |
possibly damaging |
Het |
| Mllt11 |
G |
T |
3: 95,127,602 (GRCm39) |
T56K |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,875,249 (GRCm39) |
R1551H |
probably damaging |
Het |
| Nmrk2 |
T |
C |
10: 81,036,796 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or2ab1 |
T |
A |
11: 58,488,831 (GRCm39) |
F203Y |
probably damaging |
Het |
| Or7e170 |
G |
T |
9: 19,795,365 (GRCm39) |
P79T |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,899 (GRCm39) |
D65G |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,212,486 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Pnrc2 |
A |
T |
4: 135,599,397 (GRCm39) |
H117Q |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,749,455 (GRCm39) |
I1114F |
probably damaging |
Het |
| Rpl12 |
G |
A |
2: 32,853,000 (GRCm39) |
E72K |
probably benign |
Het |
| Sbf1 |
C |
T |
15: 89,177,679 (GRCm39) |
R1642H |
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,873,118 (GRCm39) |
|
probably benign |
Het |
| Slc35c2 |
A |
T |
2: 165,122,617 (GRCm39) |
L194H |
probably damaging |
Het |
| Slfn4 |
T |
A |
11: 83,079,938 (GRCm39) |
Y150N |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,292,723 (GRCm39) |
R949G |
probably damaging |
Het |
| Urah |
T |
A |
7: 140,415,618 (GRCm39) |
S28T |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,941,860 (GRCm39) |
S649P |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,929,728 (GRCm39) |
G1263V |
probably damaging |
Het |
| Zbtb4 |
C |
A |
11: 69,669,069 (GRCm39) |
D114E |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- TGTTCACAACAAGGGACGG -3'
(R):5'- ATTTCTAAACCCGGGCTCAGC -3'
Sequencing Primer
(F):5'- TGCTCAAGGGACAGATGCTC -3'
(R):5'- CCTAGCTGGCTGATTTTACAGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation