Incidental Mutation 'IGL00226:Zfp54'
| ID |
2087 |
| 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 # |
IGL00226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
21643489-21655646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21653821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007884]
[ENSMUST00000165230]
[ENSMUST00000167749]
|
| AlphaFold |
E9PW05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007884
AA Change: D105G
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: D105G
| 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 |
possibly damaging
Transcript: ENSMUST00000165230
AA Change: D105G
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: D105G
| 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 benign
Transcript: ENSMUST00000167749
AA Change: D105G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882
AA Change: D105G
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
C |
A |
3: 36,533,690 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,777,573 (GRCm39) |
S439L |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,839,823 (GRCm39) |
|
probably null |
Het |
| Cpd |
G |
T |
11: 76,688,615 (GRCm39) |
H886N |
probably benign |
Het |
| Dhrs7 |
A |
G |
12: 72,706,124 (GRCm39) |
C94R |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,323,277 (GRCm39) |
H1369L |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,272,488 (GRCm39) |
N1068S |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,433,732 (GRCm39) |
D2329E |
possibly damaging |
Het |
| Eif1ad |
A |
G |
19: 5,418,212 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
T |
C |
8: 45,792,380 (GRCm39) |
R693G |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,411 (GRCm39) |
T153S |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,886,481 (GRCm39) |
C1104S |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,134,341 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
C |
T |
14: 8,222,856 (GRCm38) |
R233C |
possibly damaging |
Het |
| Kpna3 |
A |
G |
14: 61,611,737 (GRCm39) |
V300A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,248,857 (GRCm39) |
Y725* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,076,059 (GRCm39) |
S749P |
possibly damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,908 (GRCm39) |
T78S |
probably benign |
Het |
| Or4c110 |
A |
G |
2: 88,831,683 (GRCm39) |
|
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,859 (GRCm39) |
M39K |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,053 (GRCm39) |
I219N |
possibly damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,860 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
T |
A |
3: 122,588,006 (GRCm39) |
F391I |
probably damaging |
Het |
| Ptpn12 |
A |
C |
5: 21,203,666 (GRCm39) |
S371A |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,900 (GRCm39) |
Y254C |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,356,700 (GRCm39) |
C120Y |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,120,938 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,099,045 (GRCm39) |
Q1250R |
probably benign |
Het |
| Tph1 |
G |
T |
7: 46,306,294 (GRCm39) |
N222K |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,805 (GRCm39) |
D351V |
probably damaging |
Het |
| Zfp623 |
T |
C |
15: 75,820,052 (GRCm39) |
I336T |
probably damaging |
Het |
|
| Other mutations in Zfp54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Zfp54
|
APN |
17 |
21,650,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2011-12-09 |
Incidental Mutation