Incidental Mutation 'R1335:Phf24'
| ID |
156838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf24
|
| Ensembl Gene |
ENSMUSG00000036062 |
| Gene Name |
PHD finger protein 24 |
| Synonyms |
N28178, GINIP |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42934657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 98
(V98I)
|
| 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: V98I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000071011
Gene: ENSMUSG00000036062
AA Change: V98I
| 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: V135I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103609
Gene: ENSMUSG00000036062
AA Change: V135I
| 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: V98I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103610
Gene: ENSMUSG00000036062
AA Change: V98I
| 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 |
unknown
Transcript: ENSMUST00000138425
AA Change: V35I
|
| SMART Domains |
Protein: ENSMUSP00000115816
Gene: ENSMUSG00000036062
AA Change: V35I
| 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 |
0.0581 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,922,027 (GRCm39) |
D185V |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,833,285 (GRCm39) |
I230F |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,699,923 (GRCm39) |
H52L |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
C |
T |
1: 184,536,138 (GRCm39) |
R98Q |
probably benign |
Het |
| Ndrg3 |
T |
C |
2: 156,787,928 (GRCm39) |
|
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,763,585 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAACAGAGCCCTAAGCAGCTTCC -3'
(R):5'- ATACTGCACCTCTAGCTCCAGGAC -3'
Sequencing Primer
(F):5'- AAGCAGCTTCCTAGTGCTCG -3'
(R):5'- GGATGAACACCGAGTTTTCC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation