Incidental Mutation 'R6249:Phf2'
| ID |
505871 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48959348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 886
(R886L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
| AlphaFold |
Q9WTU0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035540
AA Change: R886L
|
| SMART Domains |
Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: R886L
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,702,505 (GRCm39) |
S90C |
probably damaging |
Het |
| Abca9 |
T |
C |
11: 110,036,453 (GRCm39) |
D552G |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,471,639 (GRCm39) |
L502P |
probably damaging |
Het |
| Agmo |
T |
C |
12: 37,293,837 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
G |
10: 69,658,906 (GRCm39) |
|
probably null |
Het |
| Apol11b |
G |
T |
15: 77,519,537 (GRCm39) |
T181K |
probably benign |
Het |
| Arap2 |
G |
T |
5: 62,803,536 (GRCm39) |
H1244N |
probably damaging |
Het |
| Arid1b |
A |
T |
17: 5,329,636 (GRCm39) |
M838L |
possibly damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,816 (GRCm39) |
V19I |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,306 (GRCm39) |
M354K |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,692,711 (GRCm39) |
M381K |
possibly damaging |
Het |
| Ccdc63 |
A |
C |
5: 122,263,062 (GRCm39) |
L160W |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,199,122 (GRCm39) |
L156P |
probably damaging |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddb1 |
C |
A |
19: 10,583,084 (GRCm39) |
Y5* |
probably null |
Het |
| Fignl2 |
T |
C |
15: 100,952,060 (GRCm39) |
E74G |
possibly damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,676,850 (GRCm39) |
|
probably benign |
Het |
| Gm16503 |
A |
G |
4: 147,625,508 (GRCm39) |
M1V |
probably null |
Het |
| Gm2696 |
A |
C |
10: 77,630,646 (GRCm39) |
|
probably benign |
Het |
| Gm45844 |
A |
G |
7: 7,243,092 (GRCm39) |
S20P |
probably benign |
Het |
| Gm7579 |
C |
T |
7: 141,765,743 (GRCm39) |
P50S |
unknown |
Het |
| Idh1 |
A |
G |
1: 65,205,378 (GRCm39) |
S196P |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,511,598 (GRCm39) |
V214A |
possibly damaging |
Het |
| Kctd17 |
C |
G |
15: 78,314,239 (GRCm39) |
|
probably null |
Het |
| Lama1 |
G |
T |
17: 68,105,599 (GRCm39) |
V2036L |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,390,271 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,708,484 (GRCm39) |
V1670E |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,524 (GRCm39) |
I266N |
probably damaging |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
T |
C |
1: 125,952,667 (GRCm39) |
E1295G |
probably benign |
Het |
| Nrxn3 |
T |
A |
12: 89,221,448 (GRCm39) |
V409D |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,566,910 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,874,238 (GRCm39) |
L284F |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,384,725 (GRCm39) |
N303Y |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,818 (GRCm39) |
S140C |
possibly damaging |
Het |
| Or5h22 |
T |
C |
16: 58,894,795 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,880 (GRCm39) |
I305R |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,086,729 (GRCm39) |
V304E |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,147,008 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
A |
T |
14: 70,297,099 (GRCm39) |
T213S |
possibly damaging |
Het |
| Pik3ca |
A |
T |
3: 32,515,712 (GRCm39) |
H795L |
probably damaging |
Het |
| Pisd |
G |
T |
5: 32,896,188 (GRCm39) |
T379N |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,446,196 (GRCm39) |
L732P |
probably damaging |
Het |
| Pskh1 |
A |
G |
8: 106,639,617 (GRCm39) |
D99G |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,071 (GRCm39) |
T497A |
probably benign |
Het |
| Rps24 |
C |
T |
14: 24,543,530 (GRCm39) |
T108M |
possibly damaging |
Het |
| Rtel1 |
C |
T |
2: 180,993,475 (GRCm39) |
R566C |
probably damaging |
Het |
| Scyl2 |
A |
G |
10: 89,493,719 (GRCm39) |
S350P |
possibly damaging |
Het |
| Slc38a7 |
G |
T |
8: 96,564,302 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
G |
6: 143,779,009 (GRCm39) |
I674T |
probably benign |
Het |
| Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
| Surf4 |
C |
A |
2: 26,816,899 (GRCm39) |
E39D |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,192,291 (GRCm39) |
Y10* |
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,911,215 (GRCm39) |
G323R |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,399,006 (GRCm38) |
Y542C |
probably damaging |
Het |
| Trim61 |
A |
G |
8: 65,467,108 (GRCm39) |
V51A |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,769,009 (GRCm39) |
I501N |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,382,869 (GRCm39) |
D32N |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,864,383 (GRCm39) |
Y411C |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,242,365 (GRCm39) |
V490I |
probably benign |
Het |
| Xylt1 |
G |
T |
7: 117,266,528 (GRCm39) |
A849S |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,979,815 (GRCm39) |
N599K |
possibly damaging |
Het |
| Zbtb38 |
T |
A |
9: 96,568,045 (GRCm39) |
Y1013F |
probably damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,903 (GRCm39) |
S418G |
probably 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 |
|
|
R6237:Phf2
|
UTSW |
13 |
48,957,131 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGGGGCCTCACATGACAAAG -3'
(R):5'- CTGAGAACCTAAGGACAGATCTGG -3'
Sequencing Primer
(F):5'- GGGCCTCACATGACAAAGTTCTAG -3'
(R):5'- CTAAGGACAGATCTGGGGCCAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation