Incidental Mutation 'R6876:Zfp54'
| ID |
536436 |
| 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 |
044972-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21643489-21655646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21654239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 244
(K244N)
|
| 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: K244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: K244N
| 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: K244N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: K244N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,044,288 (GRCm39) |
T201A |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,302,667 (GRCm39) |
D2184V |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,270,136 (GRCm39) |
D641N |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,303,273 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,659,744 (GRCm39) |
E693G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Arv1 |
A |
G |
8: 125,457,651 (GRCm39) |
K185R |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,871,624 (GRCm39) |
V258D |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,506 (GRCm39) |
D502G |
unknown |
Het |
| Diaph1 |
A |
T |
18: 38,029,426 (GRCm39) |
H335Q |
unknown |
Het |
| Dtna |
G |
A |
18: 23,744,167 (GRCm39) |
V404I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,861,319 (GRCm39) |
D615G |
probably damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,855 (GRCm39) |
I25N |
probably damaging |
Het |
| Hao1 |
A |
G |
2: 134,343,069 (GRCm39) |
V274A |
probably benign |
Het |
| Hirip3 |
T |
C |
7: 126,463,321 (GRCm39) |
S426P |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,818 (GRCm39) |
D103G |
probably damaging |
Het |
| Kdm8 |
T |
C |
7: 125,051,830 (GRCm39) |
V141A |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,498,261 (GRCm39) |
A553S |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,314,317 (GRCm39) |
Y60F |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
C |
A |
9: 75,067,772 (GRCm39) |
R609S |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,841,026 (GRCm39) |
H969L |
probably benign |
Het |
| Or1n2 |
T |
A |
2: 36,797,834 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,098 (GRCm39) |
Q259E |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,068 (GRCm39) |
L130P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,205,925 (GRCm39) |
W207R |
probably damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,910 (GRCm39) |
D20G |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,087 (GRCm39) |
K457E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,859,791 (GRCm39) |
E551G |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,069,049 (GRCm39) |
F358S |
probably damaging |
Het |
| Tes3-ps |
A |
G |
13: 49,647,195 (GRCm39) |
K24E |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,400,497 (GRCm39) |
F335L |
possibly damaging |
Het |
| Unc45b |
T |
C |
11: 82,813,738 (GRCm39) |
Y382H |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,450 (GRCm39) |
H369Q |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,518 (GRCm39) |
I265V |
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 |
|
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 |
|
|
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'- ATCTCTACACACAGTCTCATGC -3'
(R):5'- ATGAAAGACCTTGCCACAGTATTGAC -3'
Sequencing Primer
(F):5'- TCCACACCAGTGTATGAAATATGGG -3'
(R):5'- TGACAACTATAACATTCCTCTGCAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation