Incidental Mutation 'IGL00425:Zfp54'
| ID |
3918 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp54
|
| Ensembl Gene |
ENSMUSG00000023882 |
| Gene Name |
zinc finger protein 54 |
| Synonyms |
Zfp-54, Zfp76, KRAB10, clone 18 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
21643489-21655646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21650559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 45
(N45D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007884]
[ENSMUST00000165230]
[ENSMUST00000167749]
|
| AlphaFold |
E9PW05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007884
AA Change: N45D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: N45D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
8.44e-22 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
383 |
403 |
6.24e0 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165230
AA Change: N45D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: N45D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
8.44e-22 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
383 |
403 |
6.24e0 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
2.3e-5 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
4.17e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167749
AA Change: N45D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882
AA Change: N45D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
73 |
8.44e-22 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.69e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232563
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
C |
T |
14: 66,311,498 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
A |
T |
4: 129,912,865 (GRCm39) |
H1373L |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,547 (GRCm39) |
S599P |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,961,103 (GRCm39) |
|
probably benign |
Het |
| Baiap2 |
A |
G |
11: 119,872,836 (GRCm39) |
T125A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,404,550 (GRCm39) |
S1114P |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,840,765 (GRCm39) |
S111P |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,459,176 (GRCm39) |
T78S |
possibly damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,321,709 (GRCm39) |
|
probably null |
Het |
| Cdkl3 |
C |
A |
11: 51,920,683 (GRCm39) |
T462K |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,102,609 (GRCm39) |
L208R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,542,342 (GRCm39) |
S487P |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,748 (GRCm39) |
L1816Q |
unknown |
Het |
| Dido1 |
A |
G |
2: 180,325,782 (GRCm39) |
S469P |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,734,826 (GRCm39) |
N935D |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,702,961 (GRCm39) |
I184T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,253,620 (GRCm39) |
I32V |
possibly damaging |
Het |
| Hycc2 |
A |
T |
1: 58,579,412 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
G |
A |
12: 119,153,561 (GRCm39) |
T318I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,236 (GRCm39) |
S703G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,743,866 (GRCm39) |
S1321C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,717 (GRCm39) |
N415S |
possibly damaging |
Het |
| Megf10 |
C |
A |
18: 57,373,700 (GRCm39) |
A166D |
probably damaging |
Het |
| Mrm3 |
T |
G |
11: 76,135,319 (GRCm39) |
S177A |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,539,368 (GRCm39) |
F2011S |
probably benign |
Het |
| Nipal1 |
C |
T |
5: 72,816,067 (GRCm39) |
S30L |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,447 (GRCm39) |
Y895H |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,500,559 (GRCm39) |
N495D |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,548,182 (GRCm39) |
|
probably null |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,835,663 (GRCm39) |
D40G |
probably benign |
Het |
| Serhl |
A |
T |
15: 82,989,838 (GRCm39) |
D192V |
possibly damaging |
Het |
| Slc12a5 |
C |
T |
2: 164,825,201 (GRCm39) |
A461V |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,900,582 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Zfp54
|
APN |
17 |
21,653,821 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02830:Zfp54
|
APN |
17 |
21,653,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Zfp54
|
APN |
17 |
21,650,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1853:Zfp54
|
UTSW |
17 |
21,654,404 (GRCm39) |
nonsense |
probably null |
|
|
R1855:Zfp54
|
UTSW |
17 |
21,654,404 (GRCm39) |
nonsense |
probably null |
|
|
R1915:Zfp54
|
UTSW |
17 |
21,654,414 (GRCm39) |
missense |
probably benign |
|
|
R3803:Zfp54
|
UTSW |
17 |
21,653,814 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4430:Zfp54
|
UTSW |
17 |
21,655,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4724:Zfp54
|
UTSW |
17 |
21,653,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4799:Zfp54
|
UTSW |
17 |
21,654,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Zfp54
|
UTSW |
17 |
21,654,442 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5400:Zfp54
|
UTSW |
17 |
21,653,962 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5422:Zfp54
|
UTSW |
17 |
21,654,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5566:Zfp54
|
UTSW |
17 |
21,653,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6460:Zfp54
|
UTSW |
17 |
21,654,004 (GRCm39) |
missense |
probably benign |
|
|
R6528:Zfp54
|
UTSW |
17 |
21,653,736 (GRCm39) |
nonsense |
probably null |
|
|
R6876:Zfp54
|
UTSW |
17 |
21,654,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Zfp54
|
UTSW |
17 |
21,653,844 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7342:Zfp54
|
UTSW |
17 |
21,648,014 (GRCm39) |
start gained |
probably benign |
|
|
R7660:Zfp54
|
UTSW |
17 |
21,654,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Zfp54
|
UTSW |
17 |
21,654,357 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7796:Zfp54
|
UTSW |
17 |
21,654,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Zfp54
|
UTSW |
17 |
21,655,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8412:Zfp54
|
UTSW |
17 |
21,654,910 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9224:Zfp54
|
UTSW |
17 |
21,654,037 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9509:Zfp54
|
UTSW |
17 |
21,654,629 (GRCm39) |
nonsense |
probably null |
|
|
R9578:Zfp54
|
UTSW |
17 |
21,655,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Zfp54
|
UTSW |
17 |
21,654,149 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2012-04-20 |
Incidental Mutation