Incidental Mutation 'R3111:Phf24'
ID |
263764 |
Institutional Source |
Beutler Lab
|
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 # |
R3111 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 42938316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 226
(V226I)
|
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: V226I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000071011 Gene: ENSMUSG00000036062 AA Change: V226I
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: V263I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103609 Gene: ENSMUSG00000036062 AA Change: V263I
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: V226I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000103610 Gene: ENSMUSG00000036062 AA Change: V226I
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: V21I
|
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: V147I
|
SMART Domains |
Protein: ENSMUSP00000115816 Gene: ENSMUSG00000036062 AA Change: V147I
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 |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
Nmnat3 |
T |
A |
9: 98,281,533 (GRCm39) |
I45N |
probably damaging |
Het |
Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGATGCGACAAGAGCTGG -3'
(R):5'- CTTAAGCAGTTTCCGCAGCC -3'
Sequencing Primer
(F):5'- TGCCCTGGAGGACAGTG -3'
(R):5'- GATGGACCTGGAACCCTTTC -3'
|
Posted On |
2015-02-05 |