Incidental Mutation 'R6309:Phf24'
ID |
509723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf24
|
Ensembl Gene |
ENSMUSG00000036062 |
Gene Name |
PHD finger protein 24 |
Synonyms |
N28178, GINIP |
MMRRC Submission |
044413-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6309 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
42916660-42944752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42933960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 14
(D14G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069184]
[ENSMUST00000107975]
[ENSMUST00000107976]
[ENSMUST00000124380]
[ENSMUST00000132173]
[ENSMUST00000139100]
|
AlphaFold |
Q80TL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069184
AA Change: D77G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071011 Gene: ENSMUSG00000036062 AA Change: D77G
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 damaging
Transcript: ENSMUST00000107975
AA Change: D114G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103609 Gene: ENSMUSG00000036062 AA Change: D114G
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 damaging
Transcript: ENSMUST00000107976
AA Change: D77G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103610 Gene: ENSMUSG00000036062 AA Change: D77G
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 damaging
Transcript: ENSMUST00000138425
AA Change: D14G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115816 Gene: ENSMUSG00000036062 AA Change: D14G
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 |
0.1216 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
92% (35/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,117,259 (GRCm39) |
|
probably null |
Het |
Ak4 |
T |
C |
4: 101,320,859 (GRCm39) |
Y223H |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,869 (GRCm39) |
|
probably null |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,948,576 (GRCm39) |
|
probably benign |
Het |
Cpeb3 |
T |
G |
19: 37,022,089 (GRCm39) |
I569L |
possibly damaging |
Het |
Dis3 |
A |
T |
14: 99,323,358 (GRCm39) |
N569K |
probably benign |
Het |
Erich5 |
T |
C |
15: 34,471,602 (GRCm39) |
L277P |
probably benign |
Het |
Fam171b |
T |
C |
2: 83,690,804 (GRCm39) |
S256P |
probably damaging |
Het |
Glis3 |
A |
G |
19: 28,294,761 (GRCm39) |
V679A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm8212 |
A |
G |
14: 44,438,636 (GRCm39) |
|
probably benign |
Het |
Grin2b |
T |
A |
6: 135,710,025 (GRCm39) |
T1174S |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,675,446 (GRCm39) |
Y1045C |
probably damaging |
Het |
Hsf2 |
C |
T |
10: 57,362,676 (GRCm39) |
|
probably benign |
Het |
Ighv1-4 |
G |
T |
12: 114,451,015 (GRCm39) |
A31E |
probably benign |
Het |
Il11ra1 |
A |
G |
4: 41,765,279 (GRCm39) |
K151E |
possibly damaging |
Het |
Inpp4b |
T |
A |
8: 82,768,546 (GRCm39) |
M685K |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,109,429 (GRCm39) |
D209E |
probably damaging |
Het |
L1td1 |
T |
C |
4: 98,625,328 (GRCm39) |
S508P |
probably damaging |
Het |
Lrrn3 |
G |
A |
12: 41,503,205 (GRCm39) |
R371C |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,277,878 (GRCm39) |
T755A |
probably benign |
Het |
Odad2 |
A |
G |
18: 7,214,617 (GRCm39) |
V728A |
probably benign |
Het |
Or10al7 |
T |
A |
17: 38,366,043 (GRCm39) |
Y138F |
probably damaging |
Het |
Or2n1 |
T |
C |
17: 38,486,410 (GRCm39) |
V145A |
probably benign |
Het |
Prkd1 |
A |
T |
12: 50,441,443 (GRCm39) |
C314* |
probably null |
Het |
Rnf187 |
A |
T |
11: 58,827,986 (GRCm39) |
S155T |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Scn10a |
A |
G |
9: 119,453,181 (GRCm39) |
I1237T |
possibly damaging |
Het |
Sec16a |
T |
C |
2: 26,328,583 (GRCm39) |
N1144S |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,101,081 (GRCm39) |
V58A |
probably damaging |
Het |
Slc37a3 |
T |
C |
6: 39,334,394 (GRCm39) |
*84W |
probably null |
Het |
Trpm2 |
T |
A |
10: 77,774,202 (GRCm39) |
I466F |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,660 (GRCm39) |
I288F |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,801,124 (GRCm39) |
T271A |
probably benign |
Het |
Vsig10l |
A |
G |
7: 43,120,397 (GRCm39) |
|
probably null |
Het |
Wdr95 |
A |
G |
5: 149,504,268 (GRCm39) |
|
probably null |
Het |
Zfp960 |
T |
C |
17: 17,308,639 (GRCm39) |
I451T |
probably benign |
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 |
|
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'- AGGCCTTCCATTAGACGTGG -3'
(R):5'- TCTTGTGGGAAAAGGACTGTTCC -3'
Sequencing Primer
(F):5'- AGGGCTCTGTTCAGGAAGTAC -3'
(R):5'- GGACTGTTCCGAACTCCAC -3'
|
Posted On |
2018-04-02 |