Incidental Mutation 'R8496:Phf2'
ID |
658285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf2
|
Ensembl Gene |
ENSMUSG00000038025 |
Gene Name |
PHD finger protein 2 |
Synonyms |
|
MMRRC Submission |
067938-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.294)
|
Stock # |
R8496 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
48955226-49024361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48971181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 497
(V497A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035540]
|
AlphaFold |
Q9WTU0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000035540
AA Change: V497A
|
SMART Domains |
Protein: ENSMUSP00000047308 Gene: ENSMUSG00000038025 AA Change: V497A
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
G |
5: 138,645,120 (GRCm39) |
E335G |
probably benign |
Het |
Afp |
C |
T |
5: 90,639,572 (GRCm39) |
S34F |
probably damaging |
Het |
Ano6 |
T |
A |
15: 95,847,807 (GRCm39) |
I639N |
probably damaging |
Het |
Atp13a1 |
T |
G |
8: 70,250,618 (GRCm39) |
V411G |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,461,309 (GRCm39) |
C383S |
probably damaging |
Het |
Capn2 |
T |
C |
1: 182,304,840 (GRCm39) |
I556V |
probably benign |
Het |
Cd34 |
A |
G |
1: 194,642,089 (GRCm39) |
E322G |
probably benign |
Het |
Cel |
T |
C |
2: 28,446,200 (GRCm39) |
D557G |
probably benign |
Het |
Cemip |
T |
C |
7: 83,600,634 (GRCm39) |
I996V |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,453,182 (GRCm39) |
*514R |
probably null |
Het |
Cry2 |
C |
G |
2: 92,257,284 (GRCm39) |
R95P |
probably damaging |
Het |
Ctse |
T |
A |
1: 131,592,118 (GRCm39) |
I148N |
probably damaging |
Het |
Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
Dsn1 |
C |
T |
2: 156,839,640 (GRCm39) |
V254M |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,843,377 (GRCm39) |
D755G |
possibly damaging |
Het |
Gm4847 |
T |
A |
1: 166,469,761 (GRCm39) |
H104L |
possibly damaging |
Het |
Gpr88 |
T |
C |
3: 116,046,117 (GRCm39) |
T65A |
possibly damaging |
Het |
Gtse1 |
A |
G |
15: 85,746,283 (GRCm39) |
D33G |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,943,325 (GRCm39) |
Y455H |
probably benign |
Het |
Kctd1 |
A |
T |
18: 15,107,228 (GRCm39) |
C150S |
probably damaging |
Het |
Kctd11 |
T |
G |
11: 69,770,877 (GRCm39) |
T54P |
probably damaging |
Het |
Kif1b |
C |
A |
4: 149,277,068 (GRCm39) |
G56* |
probably null |
Het |
Kifap3 |
T |
A |
1: 163,656,866 (GRCm39) |
|
probably null |
Het |
Naip5 |
G |
T |
13: 100,349,247 (GRCm39) |
H1360Q |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,147,127 (GRCm39) |
E1198G |
probably damaging |
Het |
Nova1 |
T |
A |
12: 46,760,325 (GRCm39) |
K90* |
probably null |
Het |
Odc1 |
T |
A |
12: 17,598,396 (GRCm39) |
L179H |
probably damaging |
Het |
Or10w1 |
T |
A |
19: 13,632,388 (GRCm39) |
H193Q |
probably damaging |
Het |
Or1ad8 |
T |
C |
11: 50,897,877 (GRCm39) |
V26A |
probably benign |
Het |
Or1s2 |
A |
G |
19: 13,758,384 (GRCm39) |
N136S |
probably benign |
Het |
Palm |
C |
T |
10: 79,642,485 (GRCm39) |
T6I |
probably benign |
Het |
Parp10 |
T |
A |
15: 76,117,749 (GRCm39) |
D879V |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,440,112 (GRCm39) |
I199V |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,660 (GRCm39) |
I180N |
probably damaging |
Het |
Prdx5 |
A |
T |
19: 6,885,542 (GRCm39) |
C37* |
probably null |
Het |
Ptprz1 |
A |
T |
6: 22,972,797 (GRCm39) |
T236S |
probably damaging |
Het |
Rab5b |
G |
A |
10: 128,518,776 (GRCm39) |
Q119* |
probably null |
Het |
Rdh19 |
T |
A |
10: 127,695,469 (GRCm39) |
W228R |
probably damaging |
Het |
Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
Secisbp2 |
T |
C |
13: 51,819,383 (GRCm39) |
V321A |
probably damaging |
Het |
Slc6a5 |
T |
A |
7: 49,585,960 (GRCm39) |
V426D |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,178,896 (GRCm39) |
E4526V |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,268,441 (GRCm39) |
K2083E |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,241,547 (GRCm39) |
I2143F |
probably benign |
Het |
Tfap4 |
T |
C |
16: 4,369,170 (GRCm39) |
D90G |
probably damaging |
Het |
Ttll12 |
T |
C |
15: 83,462,010 (GRCm39) |
Y569C |
probably damaging |
Het |
Zfp326 |
T |
G |
5: 106,036,451 (GRCm39) |
S121A |
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 |
|
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 |
|
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'- AGGTGTTATCCCAGCTGTCC -3'
(R):5'- AGGGAACACGAATGACCCTC -3'
Sequencing Primer
(F):5'- GTGGCTCCATCTTGGTCAGC -3'
(R):5'- GAACACGAATGACCCTCTCCTTTTC -3'
|
Posted On |
2021-01-18 |