Incidental Mutation 'IGL00907:Phf24'
| ID |
27217 |
| 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 # |
IGL00907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42938667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 264
(T264I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069184]
[ENSMUST00000107975]
[ENSMUST00000107976]
[ENSMUST00000124380]
[ENSMUST00000132173]
[ENSMUST00000139100]
|
| AlphaFold |
Q80TL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069184
AA Change: T264I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: T264I
| 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: T301I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: T301I
| 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 |
probably benign
Transcript: ENSMUST00000107976
AA Change: T264I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: T264I
| 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 |
unknown
Transcript: ENSMUST00000131234
AA Change: T59I
|
| 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 |
unknown
Transcript: ENSMUST00000138425
AA Change: T185I
|
| SMART Domains |
Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
AA Change: T185I
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
A |
G |
10: 4,454,051 (GRCm38) |
F379V |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
| Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
| Fam234a |
G |
A |
17: 26,432,500 (GRCm39) |
R550W |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
| Mael |
A |
G |
1: 166,032,418 (GRCm39) |
Y314H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
| Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,590,097 (GRCm39) |
D175V |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,476,765 (GRCm39) |
N206S |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
|
| Other mutations in Phf24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Phf24
|
APN |
4 |
42,933,905 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
2013-04-17 |
Incidental Mutation