Incidental Mutation 'R4430:Zfp54'
| ID |
328583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp54
|
| Ensembl Gene |
ENSMUSG00000023882 |
| Gene Name |
zinc finger protein 54 |
| Synonyms |
Zfp-54, Zfp76, KRAB10, clone 18 |
| MMRRC Submission |
041700-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4430 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21643489-21655646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21655222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 572
(V572G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007884]
[ENSMUST00000165230]
[ENSMUST00000167749]
|
| AlphaFold |
E9PW05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007884
AA Change: V572G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: V572G
| 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: V572G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: V572G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
| Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
| Ankrd55 |
G |
A |
13: 112,459,717 (GRCm39) |
|
probably null |
Het |
| Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
| Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
| Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
| Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
| Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
| Or6c213 |
T |
A |
10: 129,574,130 (GRCm39) |
I219F |
probably damaging |
Het |
| Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
| Pde3b |
C |
T |
7: 114,133,905 (GRCm39) |
P974S |
probably damaging |
Het |
| Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sox5 |
A |
G |
6: 143,987,000 (GRCm39) |
I188T |
possibly damaging |
Het |
| Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,483,552 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGCCTCACAACTTAGA -3'
(R):5'- GGGACTAGGATAAAAGCACCATCT -3'
Sequencing Primer
(F):5'- ACACATCAGAGAGTTCATACTGG -3'
(R):5'- CATTAAGTCCAGCTTCAGGGGATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation