Incidental Mutation 'R1551:Phf2'
| ID |
169944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf2
|
| Ensembl Gene |
ENSMUSG00000038025 |
| Gene Name |
PHD finger protein 2 |
| Synonyms |
|
| MMRRC Submission |
039590-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.345)
|
| Stock # |
R1551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48957079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1096
(L1096P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
| AlphaFold |
Q9WTU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035540
AA Change: L1096P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: L1096P
| 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 |
0.1427 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 83.4%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,918,101 (GRCm39) |
I1534M |
probably benign |
Het |
| Acad11 |
G |
A |
9: 104,003,785 (GRCm39) |
A626T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,119,174 (GRCm39) |
N3560K |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,470 (GRCm39) |
V363I |
probably benign |
Het |
| Anks1b |
A |
G |
10: 89,912,843 (GRCm39) |
T289A |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,340 (GRCm39) |
N64S |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,282,072 (GRCm39) |
|
probably null |
Het |
| Cd101 |
T |
C |
3: 100,919,329 (GRCm39) |
H591R |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,120 (GRCm39) |
V294I |
probably benign |
Het |
| Cfap47 |
C |
A |
X: 78,532,251 (GRCm39) |
L842F |
probably damaging |
Het |
| Cgref1 |
T |
C |
5: 31,090,929 (GRCm39) |
E295G |
probably benign |
Het |
| Cit |
A |
G |
5: 116,083,901 (GRCm39) |
M787V |
probably benign |
Het |
| Clcn6 |
G |
A |
4: 148,097,235 (GRCm39) |
P611S |
possibly damaging |
Het |
| Clec12a |
A |
C |
6: 129,327,384 (GRCm39) |
M1L |
probably damaging |
Het |
| Cmtm6 |
C |
T |
9: 114,575,573 (GRCm39) |
R161W |
probably damaging |
Het |
| Colec10 |
G |
T |
15: 54,325,658 (GRCm39) |
V163L |
probably damaging |
Het |
| Coq8b |
A |
G |
7: 26,956,907 (GRCm39) |
Y520C |
probably damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,948,821 (GRCm39) |
E45* |
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,669,975 (GRCm39) |
E663G |
possibly damaging |
Het |
| Dst |
G |
A |
1: 34,231,293 (GRCm39) |
R2962H |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,300,995 (GRCm39) |
I254T |
probably damaging |
Het |
| Fbxo36 |
T |
C |
1: 84,858,835 (GRCm39) |
I40T |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,597,383 (GRCm39) |
V568M |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,356,207 (GRCm39) |
Y883H |
possibly damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,589 (GRCm39) |
T199S |
possibly damaging |
Het |
| Gm12789 |
A |
G |
4: 101,846,131 (GRCm39) |
K131E |
probably benign |
Het |
| Gm17641 |
C |
A |
3: 68,777,448 (GRCm39) |
|
silent |
Het |
| Gm6665 |
G |
T |
18: 31,953,340 (GRCm39) |
R43S |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,203 (GRCm39) |
H98L |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,491,528 (GRCm39) |
E75V |
probably damaging |
Het |
| Herc2 |
G |
T |
7: 55,796,417 (GRCm39) |
V1930L |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Htr6 |
A |
T |
4: 138,801,776 (GRCm39) |
C99* |
probably null |
Het |
| Lgals2 |
C |
T |
15: 78,736,511 (GRCm39) |
M16I |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,756,090 (GRCm39) |
N622D |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,383,791 (GRCm39) |
I1613F |
possibly damaging |
Het |
| Oacyl |
C |
T |
18: 65,875,280 (GRCm39) |
R455C |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,397 (GRCm39) |
Y132* |
probably null |
Het |
| Or5ac21 |
T |
A |
16: 59,123,766 (GRCm39) |
N84K |
probably benign |
Het |
| Or5bh3 |
T |
C |
X: 49,098,872 (GRCm39) |
T81A |
possibly damaging |
Het |
| Orm3 |
A |
G |
4: 63,275,146 (GRCm39) |
|
probably null |
Het |
| Pigt |
T |
C |
2: 164,349,323 (GRCm39) |
V542A |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,937,720 (GRCm39) |
F992L |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Pramel11 |
A |
G |
4: 143,622,263 (GRCm39) |
M364T |
probably benign |
Het |
| Prmt7 |
A |
G |
8: 106,964,014 (GRCm39) |
T303A |
probably benign |
Het |
| Prpf4b |
A |
T |
13: 35,078,426 (GRCm39) |
I679F |
possibly damaging |
Het |
| Psd4 |
T |
A |
2: 24,293,292 (GRCm39) |
M719K |
probably benign |
Het |
| Ranbp9 |
A |
T |
13: 43,578,593 (GRCm39) |
M160K |
probably benign |
Het |
| Rfc1 |
A |
G |
5: 65,434,706 (GRCm39) |
Y687H |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,883,423 (GRCm39) |
K119R |
probably damaging |
Het |
| Rnf113a1 |
T |
C |
X: 36,455,046 (GRCm39) |
M1T |
probably null |
Het |
| Rnf40 |
A |
C |
7: 127,195,506 (GRCm39) |
K511Q |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,800,029 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
T |
15: 75,937,011 (GRCm39) |
V365E |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,379,443 (GRCm39) |
V575A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,067,732 (GRCm39) |
N2053S |
possibly damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,790,511 (GRCm39) |
|
probably null |
Het |
| Stab1 |
G |
T |
14: 30,882,456 (GRCm39) |
N460K |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,992,787 (GRCm39) |
C964S |
probably benign |
Het |
| Tmed11 |
A |
G |
5: 108,927,680 (GRCm39) |
|
probably null |
Het |
| Tmem191 |
C |
A |
16: 17,095,984 (GRCm39) |
R285S |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,312,552 (GRCm39) |
S1917P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,892,440 (GRCm39) |
H357L |
probably benign |
Het |
| Vmn1r229 |
A |
G |
17: 21,035,051 (GRCm39) |
T99A |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,283 (GRCm39) |
S97P |
probably damaging |
Het |
| Wasf2 |
G |
T |
4: 132,917,483 (GRCm39) |
R194L |
unknown |
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 |
|
|
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 |
PCR Primer
(F):5'- TCAAGGGACAGATGCTCGCATTG -3'
(R):5'- ACTTCTTAGCCATGCCATCCTGAAC -3'
Sequencing Primer
(F):5'- ATGCTCGCATTGGGGAGAG -3'
(R):5'- TACACCTCTGAGCACGTTGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation