Incidental Mutation 'IGL00489:Phf24'
| ID |
332208 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf24
|
| Ensembl Gene |
ENSMUSG00000036062 |
| Gene Name |
PHD finger protein 24 |
| Synonyms |
N28178, GINIP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00489
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42933905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 59
(T59P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069184]
[ENSMUST00000107975]
[ENSMUST00000107976]
[ENSMUST00000124380]
[ENSMUST00000132173]
[ENSMUST00000139100]
|
| AlphaFold |
Q80TL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069184
AA Change: T59P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: T59P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
PDB:1WIL|A
|
86 |
161 |
9e-49 |
PDB |
|
SCOP:d1el4a_
|
158 |
282 |
3e-4 |
SMART |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107975
AA Change: T96P
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: T96P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
64 |
N/A |
INTRINSIC |
|
Pfam:Zf_RING
|
126 |
198 |
2e-41 |
PFAM |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107976
AA Change: T59P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: T59P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
PDB:1WIL|A
|
86 |
161 |
9e-49 |
PDB |
|
SCOP:d1el4a_
|
158 |
282 |
3e-4 |
SMART |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124380
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132173
|
| SMART Domains |
Protein: ENSMUSP00000138443
Gene: ENSMUSG00000036062
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138425
|
| SMART Domains |
Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zf_RING
|
27 |
74 |
1.4e-24 |
PFAM |
|
SCOP:d1el4a_
|
80 |
204 |
2e-4 |
SMART |
|
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139100
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele develop a selective and prolonged mechanical hypersensitivity in models of inflammation and neuropathy and show impaired baclofen-mediated analgesia following nerve injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
C |
10: 14,316,147 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,115,380 (GRCm39) |
|
probably benign |
Het |
| Aspm |
C |
A |
1: 139,406,429 (GRCm39) |
A1772E |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,363,627 (GRCm39) |
D770E |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,788,019 (GRCm39) |
Y724* |
probably null |
Het |
| Ccdc178 |
A |
T |
18: 21,977,968 (GRCm39) |
I833N |
probably benign |
Het |
| Ccdc28a |
C |
A |
10: 18,106,261 (GRCm39) |
V22F |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,229,628 (GRCm39) |
N1820S |
probably benign |
Het |
| Fancm |
T |
G |
12: 65,152,967 (GRCm39) |
I1141S |
probably benign |
Het |
| Fgfrl1 |
G |
A |
5: 108,853,753 (GRCm39) |
G287S |
probably damaging |
Het |
| Galntl6 |
G |
A |
8: 58,310,574 (GRCm39) |
P376S |
probably damaging |
Het |
| Gm21985 |
A |
G |
2: 112,168,342 (GRCm39) |
|
probably benign |
Het |
| Hck |
A |
G |
2: 152,992,939 (GRCm39) |
E482G |
possibly damaging |
Het |
| Kcna3 |
C |
T |
3: 106,944,472 (GRCm39) |
S245L |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,582,283 (GRCm39) |
M798V |
possibly damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,084,013 (GRCm39) |
Y522C |
probably benign |
Het |
| Ofcc1 |
C |
A |
13: 40,433,967 (GRCm39) |
S46I |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,324,340 (GRCm39) |
D65G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,255,148 (GRCm39) |
Y280H |
probably damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,784,773 (GRCm39) |
|
probably null |
Het |
| Plcd4 |
C |
A |
1: 74,591,274 (GRCm39) |
T223N |
probably damaging |
Het |
| Polr1b |
G |
A |
2: 128,967,829 (GRCm39) |
G1074D |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,040,188 (GRCm39) |
T367A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,617,790 (GRCm39) |
M3207K |
possibly damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,730 (GRCm39) |
S1050P |
probably damaging |
Het |
| Sf3b3 |
G |
A |
8: 111,540,383 (GRCm39) |
R1013* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,068,988 (GRCm39) |
T2933A |
possibly damaging |
Het |
| Vwf |
A |
G |
6: 125,635,835 (GRCm39) |
R289G |
unknown |
Het |
| Zfp263 |
T |
C |
16: 3,563,710 (GRCm39) |
S155P |
probably benign |
Het |
|
| Other mutations in Phf24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Phf24
|
APN |
4 |
42,938,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB004:Phf24
|
UTSW |
4 |
42,934,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB014:Phf24
|
UTSW |
4 |
42,934,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0110:Phf24
|
UTSW |
4 |
42,933,761 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0355:Phf24
|
UTSW |
4 |
42,933,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Phf24
|
UTSW |
4 |
42,933,761 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0469:Phf24
|
UTSW |
4 |
42,933,761 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1335:Phf24
|
UTSW |
4 |
42,934,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1447:Phf24
|
UTSW |
4 |
42,938,232 (GRCm39) |
nonsense |
probably null |
|
|
R1824:Phf24
|
UTSW |
4 |
42,934,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Phf24
|
UTSW |
4 |
42,938,165 (GRCm39) |
unclassified |
probably benign |
|
|
R2075:Phf24
|
UTSW |
4 |
42,939,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3111:Phf24
|
UTSW |
4 |
42,938,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3548:Phf24
|
UTSW |
4 |
42,937,879 (GRCm39) |
nonsense |
probably null |
|
|
R4422:Phf24
|
UTSW |
4 |
42,934,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Phf24
|
UTSW |
4 |
42,933,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Phf24
|
UTSW |
4 |
42,933,831 (GRCm39) |
splice site |
probably null |
|
|
R5403:Phf24
|
UTSW |
4 |
42,933,831 (GRCm39) |
splice site |
probably null |
|
|
R6025:Phf24
|
UTSW |
4 |
42,938,780 (GRCm39) |
splice site |
probably null |
|
|
R6309:Phf24
|
UTSW |
4 |
42,933,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Phf24
|
UTSW |
4 |
42,938,325 (GRCm39) |
missense |
probably benign |
|
|
R7927:Phf24
|
UTSW |
4 |
42,934,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8355:Phf24
|
UTSW |
4 |
42,933,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8413:Phf24
|
UTSW |
4 |
42,937,906 (GRCm39) |
nonsense |
probably null |
|
|
R8426:Phf24
|
UTSW |
4 |
42,933,785 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Phf24
|
UTSW |
4 |
42,939,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation