Incidental Mutation 'R2845:Zfp24'
| ID |
251547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp24
|
| Ensembl Gene |
ENSMUSG00000051469 |
| Gene Name |
zinc finger protein 24 |
| Synonyms |
3526401F17Rik, ZF-12, KOX17, 5033419P20Rik, Zfp191 |
| MMRRC Submission |
040438-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
24142759-24153867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24150885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 87
(T87K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066497]
[ENSMUST00000148525]
[ENSMUST00000153337]
|
| AlphaFold |
Q91VN1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066497
AA Change: T87K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064637
Gene: ENSMUSG00000051469
AA Change: T87K
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
48 |
160 |
1.75e-73 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
2.4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148525
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153337
AA Change: T87K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122579
Gene: ENSMUSG00000051469
AA Change: T87K
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
48 |
160 |
1.75e-73 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
2.4e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous null for one mutation have hypomyelination of the central nervous system, tremors, tonic seizures and premature death, whereas mice homozygous null for another mutation are embryonic lethal. [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 |
|---|
| Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
| Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
| Other mutations in Zfp24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02750:Zfp24
|
APN |
18 |
24,150,410 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1573:Zfp24
|
UTSW |
18 |
24,150,399 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1946:Zfp24
|
UTSW |
18 |
24,147,476 (GRCm39) |
frame shift |
probably null |
|
|
R2508:Zfp24
|
UTSW |
18 |
24,150,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Zfp24
|
UTSW |
18 |
24,147,626 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4471:Zfp24
|
UTSW |
18 |
24,151,172 (GRCm39) |
start gained |
probably benign |
|
|
R5847:Zfp24
|
UTSW |
18 |
24,151,095 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6091:Zfp24
|
UTSW |
18 |
24,147,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6659:Zfp24
|
UTSW |
18 |
24,150,391 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9203:Zfp24
|
UTSW |
18 |
24,147,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Y4338:Zfp24
|
UTSW |
18 |
24,150,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y4338:Zfp24
|
UTSW |
18 |
24,150,912 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Y5409:Zfp24
|
UTSW |
18 |
24,150,912 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTTAACTCAGCAGTGTGCC -3'
(R):5'- TCCTGATGGTGAAGAGGGATC -3'
Sequencing Primer
(F):5'- AGTTAACTCAGCAGTGTGCCTACTG -3'
(R):5'- GGATCGAGCATTTCCTGGAAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation