Incidental Mutation 'IGL02048:Phf10'
| ID |
185003 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf10
|
| Ensembl Gene |
ENSMUSG00000023883 |
| Gene Name |
PHD finger protein 10 |
| Synonyms |
1810055P05Rik, Baf45a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02048
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
15165271-15181535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 15165411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 482
(P482S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024657]
[ENSMUST00000052691]
[ENSMUST00000164837]
[ENSMUST00000168938]
[ENSMUST00000228330]
[ENSMUST00000174004]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024657
AA Change: P482S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024657
Gene: ENSMUSG00000023883
AA Change: P482S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
310 |
N/A |
INTRINSIC |
|
PHD
|
378 |
433 |
1.22e-8 |
SMART |
|
PHD
|
434 |
478 |
2.44e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052691
|
| SMART Domains |
Protein: ENSMUSP00000093344
Gene: ENSMUSG00000050088
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164837
|
| SMART Domains |
Protein: ENSMUSP00000125970
Gene: ENSMUSG00000050088
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168938
|
| SMART Domains |
Protein: ENSMUSP00000125917
Gene: ENSMUSG00000023883
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
207 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174004
|
| SMART Domains |
Protein: ENSMUSP00000133628
Gene: ENSMUSG00000050088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0669
|
1 |
185 |
7e-111 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227673
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,069,831 (GRCm39) |
D1288N |
probably damaging |
Het |
| Abcc1 |
T |
C |
16: 14,229,383 (GRCm39) |
F372L |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 69,036,186 (GRCm39) |
N158K |
possibly damaging |
Het |
| Apba1 |
A |
G |
19: 23,915,000 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,130,032 (GRCm39) |
E43G |
possibly damaging |
Het |
| Bet1 |
A |
T |
6: 4,082,456 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
G |
7: 80,152,709 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,681,379 (GRCm39) |
I384V |
probably benign |
Het |
| Cyp3a13 |
T |
C |
5: 137,917,257 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,222,271 (GRCm39) |
I480N |
possibly damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,917 (GRCm39) |
K538R |
probably benign |
Het |
| Flna |
G |
T |
X: 73,272,106 (GRCm39) |
T2008K |
probably benign |
Het |
| Hc |
T |
A |
2: 34,886,039 (GRCm39) |
Q1388L |
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,548,205 (GRCm39) |
S13P |
probably benign |
Het |
| Il1rapl2 |
A |
G |
X: 137,690,398 (GRCm39) |
I288V |
probably benign |
Het |
| Il31 |
C |
T |
5: 123,618,553 (GRCm39) |
V157M |
possibly damaging |
Het |
| N4bp2l1 |
A |
G |
5: 150,500,103 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
C |
7: 49,869,355 (GRCm39) |
I210T |
probably damaging |
Het |
| Or52b3 |
T |
C |
7: 102,204,090 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or7e176 |
T |
A |
9: 20,171,784 (GRCm39) |
I216N |
possibly damaging |
Het |
| Phf1 |
A |
G |
17: 27,153,515 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
T |
G |
19: 3,523,848 (GRCm39) |
M522L |
possibly damaging |
Het |
| Qtrt1 |
T |
C |
9: 21,328,651 (GRCm39) |
L205P |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,658 (GRCm39) |
I140V |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,171 (GRCm39) |
E107K |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,715 (GRCm39) |
F155Y |
possibly damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,174,296 (GRCm39) |
D314G |
probably damaging |
Het |
|
| Other mutations in Phf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01418:Phf10
|
APN |
17 |
15,165,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01752:Phf10
|
APN |
17 |
15,175,212 (GRCm39) |
splice site |
probably benign |
|
|
IGL02334:Phf10
|
APN |
17 |
15,174,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03177:Phf10
|
APN |
17 |
15,166,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Phf10
|
UTSW |
17 |
15,166,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Phf10
|
UTSW |
17 |
15,177,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2159:Phf10
|
UTSW |
17 |
15,172,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4468:Phf10
|
UTSW |
17 |
15,173,037 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4498:Phf10
|
UTSW |
17 |
15,165,377 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5357:Phf10
|
UTSW |
17 |
15,174,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5865:Phf10
|
UTSW |
17 |
15,175,272 (GRCm39) |
intron |
probably benign |
|
|
R6105:Phf10
|
UTSW |
17 |
15,174,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6522:Phf10
|
UTSW |
17 |
15,176,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Phf10
|
UTSW |
17 |
15,179,774 (GRCm39) |
missense |
probably null |
0.05 |
|
R7203:Phf10
|
UTSW |
17 |
15,166,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Phf10
|
UTSW |
17 |
15,174,378 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8673:Phf10
|
UTSW |
17 |
15,170,868 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8708:Phf10
|
UTSW |
17 |
15,176,261 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8998:Phf10
|
UTSW |
17 |
15,170,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9044:Phf10
|
UTSW |
17 |
15,166,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Phf10
|
UTSW |
17 |
15,175,160 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9103:Phf10
|
UTSW |
17 |
15,174,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9435:Phf10
|
UTSW |
17 |
15,165,387 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9533:Phf10
|
UTSW |
17 |
15,175,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Phf10
|
UTSW |
17 |
15,166,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation