Incidental Mutation 'R8413:Phf24'
| ID |
652778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf24
|
| Ensembl Gene |
ENSMUSG00000036062 |
| Gene Name |
PHD finger protein 24 |
| Synonyms |
N28178, GINIP |
| MMRRC Submission |
067767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 42937906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 173
(C173*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069184]
[ENSMUST00000107975]
[ENSMUST00000107976]
[ENSMUST00000124380]
[ENSMUST00000132173]
[ENSMUST00000139100]
|
| AlphaFold |
Q80TL4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069184
AA Change: C173*
|
| SMART Domains |
Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: C173*
| 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 null
Transcript: ENSMUST00000107975
AA Change: C210*
|
| SMART Domains |
Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: C210*
| 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 null
Transcript: ENSMUST00000107976
AA Change: C173*
|
| SMART Domains |
Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: C173*
| 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 null
Transcript: ENSMUST00000138425
AA Change: C94*
|
| SMART Domains |
Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
AA Change: C94*
| 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 |
probably benign
Transcript: ENSMUST00000139100
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,023,123 (GRCm39) |
D86E |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,663,506 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
T |
C |
16: 38,423,283 (GRCm39) |
R928G |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,853,388 (GRCm39) |
V164A |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,110,022 (GRCm39) |
H438Q |
probably damaging |
Het |
| Cfap65 |
T |
A |
1: 74,956,328 (GRCm39) |
K1084* |
probably null |
Het |
| Csmd1 |
T |
C |
8: 15,950,676 (GRCm39) |
H3511R |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,534,274 (GRCm39) |
S178T |
possibly damaging |
Het |
| Efcab3 |
A |
C |
11: 104,811,135 (GRCm39) |
K3192N |
unknown |
Het |
| Eln |
A |
G |
5: 134,755,375 (GRCm39) |
V226A |
unknown |
Het |
| Fat4 |
A |
T |
3: 39,063,128 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
C |
T |
5: 115,717,698 (GRCm39) |
T222I |
probably benign |
Het |
| Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
| Gpc6 |
T |
A |
14: 118,129,761 (GRCm39) |
V387E |
possibly damaging |
Het |
| Gyg1 |
C |
T |
3: 20,179,619 (GRCm39) |
V255M |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,864,965 (GRCm39) |
F146I |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,900 (GRCm39) |
L1736Q |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,619 (GRCm39) |
V469A |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,157,729 (GRCm39) |
L750P |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,241,939 (GRCm39) |
V655A |
probably damaging |
Het |
| Nme8 |
C |
T |
13: 19,858,689 (GRCm39) |
D289N |
probably benign |
Het |
| Or12k5 |
T |
G |
2: 36,895,402 (GRCm39) |
T75P |
probably damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,416 (GRCm38) |
V222A |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,587,024 (GRCm39) |
|
probably benign |
Het |
| Or4k15 |
C |
G |
14: 50,364,827 (GRCm39) |
S264R |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,502 (GRCm39) |
K80E |
probably benign |
Het |
| Or8g30 |
T |
A |
9: 39,230,401 (GRCm39) |
K170* |
probably null |
Het |
| Plcb2 |
A |
G |
2: 118,549,304 (GRCm39) |
F353L |
probably damaging |
Het |
| Prss33 |
C |
A |
17: 24,052,930 (GRCm39) |
W248L |
probably damaging |
Het |
| Rgs3 |
T |
G |
4: 62,544,254 (GRCm39) |
L350R |
possibly damaging |
Het |
| Samd11 |
C |
T |
4: 156,333,730 (GRCm39) |
G200D |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,123,873 (GRCm39) |
V878E |
probably damaging |
Het |
| Sh3tc2 |
G |
C |
18: 62,148,142 (GRCm39) |
G1284A |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,572,900 (GRCm39) |
S780P |
unknown |
Het |
| Slc8a3 |
T |
C |
12: 81,361,452 (GRCm39) |
K456E |
probably damaging |
Het |
| Smok2a |
T |
A |
17: 13,444,499 (GRCm39) |
H25Q |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,589 (GRCm39) |
L225P |
possibly damaging |
Het |
| Stox1 |
C |
T |
10: 62,500,754 (GRCm39) |
R602Q |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,683,507 (GRCm39) |
C157S |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,892,622 (GRCm39) |
S850P |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,809,849 (GRCm39) |
I1082V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,965,895 (GRCm39) |
N646K |
probably benign |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,277 (GRCm39) |
Y156F |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,413 (GRCm39) |
L109H |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,115,953 (GRCm39) |
I617V |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,886,183 (GRCm39) |
Q958L |
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 |
|
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 |
|
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'- AAGCAGATCTTCCCTCTGTCTG -3'
(R):5'- AGCTCTTGTCGCATCATGCC -3'
Sequencing Primer
(F):5'- CTCCTTGACAGTGGCTGG -3'
(R):5'- ATCATGCCTCCCGTAGCCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation