Incidental Mutation 'R2333:Zfp324'
| ID |
246500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp324
|
| Ensembl Gene |
ENSMUSG00000004500 |
| Gene Name |
zinc finger protein 324 |
| Synonyms |
D430030K24Rik, ZF5128 |
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2333 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
12965838-12974236 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12971245 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 454
(T454A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038701]
[ENSMUST00000124387]
[ENSMUST00000128293]
[ENSMUST00000210619]
|
| AlphaFold |
Q78F42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038701
AA Change: T454A
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041944
Gene: ENSMUSG00000004500
AA Change: T454A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
31 |
91 |
8.89e-30 |
SMART |
|
ZnF_C2H2
|
291 |
313 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
319 |
341 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
347 |
369 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
375 |
397 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
431 |
453 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
7.37e-4 |
SMART |
|
low complexity region
|
564 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128293
|
| SMART Domains |
Protein: ENSMUSP00000124620
Gene: ENSMUSG00000004500
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
31 |
75 |
3.83e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210619
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
T |
A |
6: 149,327,511 |
I685K |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 25,769,488 |
A228T |
probably benign |
Het |
| Brd4 |
C |
T |
17: 32,221,457 |
D302N |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,398,605 |
N2061S |
probably benign |
Het |
| Col1a2 |
A |
T |
6: 4,532,747 |
M791L |
unknown |
Het |
| Dmxl1 |
A |
G |
18: 49,919,976 |
|
probably null |
Het |
| Grm1 |
A |
G |
10: 10,719,346 |
V846A |
probably damaging |
Het |
| Grm1 |
G |
A |
10: 10,719,619 |
A755V |
probably benign |
Het |
| Ikbkap |
A |
G |
4: 56,775,456 |
V701A |
probably benign |
Het |
| Ltbp4 |
C |
T |
7: 27,327,778 |
R389Q |
possibly damaging |
Het |
| Naip5 |
A |
G |
13: 100,223,171 |
I519T |
probably damaging |
Het |
| Tmem100 |
A |
G |
11: 90,035,598 |
I84V |
probably benign |
Het |
| Tnik |
C |
T |
3: 28,532,996 |
R139W |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,524,943 |
D298G |
probably damaging |
Het |
|
| Other mutations in Zfp324 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Zfp324
|
APN |
7 |
12969435 |
missense |
probably benign |
0.02 |
|
IGL01943:Zfp324
|
APN |
7 |
12968786 |
splice site |
probably benign |
|
|
IGL02668:Zfp324
|
APN |
7 |
12970846 |
missense |
probably damaging |
1.00 |
|
R0883:Zfp324
|
UTSW |
7 |
12971024 |
missense |
probably damaging |
1.00 |
|
R0931:Zfp324
|
UTSW |
7 |
12966258 |
missense |
probably benign |
0.05 |
|
R1164:Zfp324
|
UTSW |
7 |
12971624 |
missense |
probably benign |
0.02 |
|
R1587:Zfp324
|
UTSW |
7 |
12970643 |
missense |
possibly damaging |
0.63 |
|
R1837:Zfp324
|
UTSW |
7 |
12970229 |
missense |
probably benign |
0.15 |
|
R1982:Zfp324
|
UTSW |
7 |
12971218 |
missense |
probably damaging |
1.00 |
|
R3155:Zfp324
|
UTSW |
7 |
12968890 |
missense |
probably damaging |
1.00 |
|
R4050:Zfp324
|
UTSW |
7 |
12970867 |
missense |
probably damaging |
1.00 |
|
R4784:Zfp324
|
UTSW |
7 |
12971306 |
missense |
probably damaging |
1.00 |
|
R4992:Zfp324
|
UTSW |
7 |
12969373 |
missense |
probably benign |
0.02 |
|
R5970:Zfp324
|
UTSW |
7 |
12969366 |
missense |
probably benign |
0.28 |
|
R6767:Zfp324
|
UTSW |
7 |
12970600 |
missense |
probably null |
0.13 |
|
R7007:Zfp324
|
UTSW |
7 |
12971215 |
missense |
probably damaging |
1.00 |
|
R7152:Zfp324
|
UTSW |
7 |
12966271 |
missense |
probably benign |
0.07 |
|
R7164:Zfp324
|
UTSW |
7 |
12968883 |
missense |
probably damaging |
0.97 |
|
R7233:Zfp324
|
UTSW |
7 |
12970597 |
nonsense |
probably null |
|
|
R9039:Zfp324
|
UTSW |
7 |
12971528 |
missense |
probably benign |
0.19 |
|
R9172:Zfp324
|
UTSW |
7 |
12970762 |
missense |
probably damaging |
1.00 |
|
X0062:Zfp324
|
UTSW |
7 |
12971389 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACGAGTGTGGTAAGGCCTTC -3'
(R):5'- TTCTCACCCGTGTGGATACG -3'
Sequencing Primer
(F):5'- CGGCTCCAACCTCAGTCAG -3'
(R):5'- GCCTGTGGCTGAGCAACAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation