Incidental Mutation 'R3548:Phf24'
| ID |
268300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf24
|
| Ensembl Gene |
ENSMUSG00000036062 |
| Gene Name |
PHD finger protein 24 |
| Synonyms |
N28178, GINIP |
| MMRRC Submission |
040667-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3548 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 42937879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 85
(Y85*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069184]
[ENSMUST00000107975]
[ENSMUST00000107976]
[ENSMUST00000124380]
[ENSMUST00000132173]
[ENSMUST00000139100]
|
| AlphaFold |
Q80TL4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069184
AA Change: Y164*
|
| SMART Domains |
Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: Y164*
| 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: Y201*
|
| SMART Domains |
Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: Y201*
| 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: Y164*
|
| SMART Domains |
Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: Y164*
| 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: Y85*
|
| SMART Domains |
Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
AA Change: Y85*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| 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 |
|---|
| Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Frs3 |
T |
G |
17: 48,014,561 (GRCm39) |
I418S |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,245,225 (GRCm39) |
V359A |
possibly damaging |
Het |
| Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,688,383 (GRCm39) |
M183K |
probably damaging |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,476 (GRCm39) |
F74I |
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 |
|
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'- AAGCAGATCTTCCCTCTGTCTGG -3'
(R):5'- AGCTCTTGTCGCATCATGC -3'
Sequencing Primer
(F):5'- CTCCTTGACAGTGGCTGG -3'
(R):5'- ATCATGCCTCCCGTAGCCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation