Incidental Mutation 'R0535:Phf2'
| ID |
49434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf2
|
| Ensembl Gene |
ENSMUSG00000038025 |
| Gene Name |
PHD finger protein 2 |
| Synonyms |
|
| MMRRC Submission |
038727-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R0535 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48967423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 675
(Y675H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
| AlphaFold |
Q9WTU0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035540
AA Change: Y675H
|
| SMART Domains |
Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: Y675H
| 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 |
0.0669 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,019 (GRCm39) |
S1069P |
probably benign |
Het |
| Acmsd |
A |
T |
1: 127,693,680 (GRCm39) |
I305L |
probably benign |
Het |
| Aco2 |
G |
A |
15: 81,797,418 (GRCm39) |
E625K |
possibly damaging |
Het |
| Acox1 |
G |
A |
11: 116,065,264 (GRCm39) |
T561I |
possibly damaging |
Het |
| Acox2 |
T |
A |
14: 8,256,753 (GRCm38) |
T37S |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,394,125 (GRCm39) |
K17M |
probably damaging |
Het |
| Cant1 |
T |
C |
11: 118,301,969 (GRCm39) |
D116G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Cyp51 |
T |
C |
5: 4,149,202 (GRCm39) |
Q225R |
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,521,558 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
T |
C |
2: 27,002,778 (GRCm39) |
Y73C |
probably benign |
Het |
| Fbxw9 |
T |
C |
8: 85,791,229 (GRCm39) |
C271R |
probably damaging |
Het |
| Gbp10 |
T |
C |
5: 105,368,877 (GRCm39) |
N321D |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,847,817 (GRCm39) |
F675L |
probably damaging |
Het |
| Gm6327 |
T |
C |
16: 12,578,241 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,538,824 (GRCm39) |
F157I |
possibly damaging |
Het |
| Gtpbp1 |
A |
T |
15: 79,591,933 (GRCm39) |
T94S |
probably damaging |
Het |
| Hdac2 |
T |
C |
10: 36,869,895 (GRCm39) |
F286L |
probably benign |
Het |
| Ighv3-6 |
A |
T |
12: 114,252,090 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
G |
11: 102,348,359 (GRCm39) |
V791A |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,881,835 (GRCm39) |
I796F |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,667,772 (GRCm39) |
K390R |
probably null |
Het |
| Krt42 |
C |
T |
11: 100,155,412 (GRCm39) |
C368Y |
probably damaging |
Het |
| Lancl1 |
A |
G |
1: 67,049,065 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,087,291 (GRCm39) |
Y177H |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,935 (GRCm39) |
E402G |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,837,826 (GRCm39) |
F1185L |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,831,632 (GRCm39) |
I1727N |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,302,210 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,209 (GRCm39) |
E847G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,828,413 (GRCm39) |
G275E |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,329,488 (GRCm39) |
T278S |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,721,941 (GRCm39) |
S961T |
probably damaging |
Het |
| Or5ak22 |
A |
G |
2: 85,230,439 (GRCm39) |
L146P |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,059,434 (GRCm39) |
V81A |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,577,490 (GRCm39) |
V1145A |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,978 (GRCm39) |
S1058P |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,351,903 (GRCm39) |
N120S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,256,274 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,554 (GRCm39) |
Y287C |
probably benign |
Het |
| Syde2 |
G |
A |
3: 145,694,925 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
A |
16: 90,744,975 (GRCm39) |
V1190F |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,444,530 (GRCm39) |
I515N |
probably benign |
Het |
| Tmem259 |
A |
T |
10: 79,814,429 (GRCm39) |
V309E |
probably damaging |
Het |
| Tmem62 |
T |
A |
2: 120,833,077 (GRCm39) |
V494E |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,272,778 (GRCm39) |
E119V |
probably null |
Het |
| Vmn1r1 |
T |
A |
1: 181,985,516 (GRCm39) |
I50L |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,347,404 (GRCm39) |
F118S |
possibly damaging |
Het |
| Xpc |
C |
T |
6: 91,481,560 (GRCm39) |
V254I |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,640,201 (GRCm39) |
Q97* |
probably null |
Het |
| Zscan5b |
A |
G |
7: 6,236,911 (GRCm39) |
E220G |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGCAGAATCCAGCTTTGGCTTC -3'
(R):5'- TCTCCATAAGCAGACTTCCCGCAG -3'
Sequencing Primer
(F):5'- GAGGAGAGCCTCCTTCTTGTC -3'
(R):5'- TTCCCGCAGTGGAAACTCAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation