Incidental Mutation 'R0002:Zfp560'
| ID |
157136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp560
|
| Ensembl Gene |
ENSMUSG00000045519 |
| Gene Name |
zinc finger protein 560 |
| Synonyms |
2310030G09Rik |
| MMRRC Submission |
038298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0002 (G1)
|
| Quality Score |
22 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20256432-20296473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20258813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 683
(Y683C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068079]
|
| AlphaFold |
Q3URI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068079
AA Change: Y683C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065620
Gene: ENSMUSG00000045519
AA Change: Y683C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
41 |
101 |
3.22e-27 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
279 |
301 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
475 |
497 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
587 |
609 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
615 |
637 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
643 |
665 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
671 |
693 |
1.69e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2 |
T |
C |
1: 106,640,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Catsper1 |
A |
G |
19: 5,391,551 (GRCm39) |
|
probably benign |
Het |
| Ccdc125 |
C |
T |
13: 100,830,114 (GRCm39) |
Q295* |
probably null |
Het |
| Cdhr5 |
G |
T |
7: 140,849,933 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
C |
3: 62,388,260 (GRCm39) |
L625W |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,801 (GRCm39) |
D121E |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,340,885 (GRCm39) |
V849A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,211,231 (GRCm39) |
W286R |
probably damaging |
Het |
| Pate14 |
A |
T |
9: 36,548,655 (GRCm39) |
D59E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,783,947 (GRCm39) |
D312G |
probably damaging |
Het |
| Sbk3 |
T |
C |
7: 4,973,630 (GRCm39) |
D17G |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,803 (GRCm39) |
I59V |
possibly damaging |
Het |
| Tapbp |
C |
T |
17: 34,144,606 (GRCm39) |
A234V |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,701,770 (GRCm39) |
Y624H |
probably damaging |
Het |
|
| Other mutations in Zfp560 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00933:Zfp560
|
APN |
9 |
20,260,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02400:Zfp560
|
APN |
9 |
20,261,896 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0004:Zfp560
|
UTSW |
9 |
20,259,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Zfp560
|
UTSW |
9 |
20,259,656 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1401:Zfp560
|
UTSW |
9 |
20,263,149 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1481:Zfp560
|
UTSW |
9 |
20,260,086 (GRCm39) |
missense |
probably benign |
|
|
R1521:Zfp560
|
UTSW |
9 |
20,260,071 (GRCm39) |
splice site |
probably null |
|
|
R1569:Zfp560
|
UTSW |
9 |
20,260,011 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1579:Zfp560
|
UTSW |
9 |
20,259,287 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1673:Zfp560
|
UTSW |
9 |
20,258,949 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1694:Zfp560
|
UTSW |
9 |
20,259,282 (GRCm39) |
nonsense |
probably null |
|
|
R1796:Zfp560
|
UTSW |
9 |
20,263,226 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2971:Zfp560
|
UTSW |
9 |
20,260,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3416:Zfp560
|
UTSW |
9 |
20,258,974 (GRCm39) |
nonsense |
probably null |
|
|
R4182:Zfp560
|
UTSW |
9 |
20,258,744 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4509:Zfp560
|
UTSW |
9 |
20,260,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Zfp560
|
UTSW |
9 |
20,263,214 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4735:Zfp560
|
UTSW |
9 |
20,260,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4937:Zfp560
|
UTSW |
9 |
20,259,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:Zfp560
|
UTSW |
9 |
20,261,883 (GRCm39) |
nonsense |
probably null |
|
|
R6597:Zfp560
|
UTSW |
9 |
20,259,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6852:Zfp560
|
UTSW |
9 |
20,259,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6863:Zfp560
|
UTSW |
9 |
20,259,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7267:Zfp560
|
UTSW |
9 |
20,259,384 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7619:Zfp560
|
UTSW |
9 |
20,260,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7763:Zfp560
|
UTSW |
9 |
20,258,619 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8220:Zfp560
|
UTSW |
9 |
20,260,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Zfp560
|
UTSW |
9 |
20,260,231 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8858:Zfp560
|
UTSW |
9 |
20,260,403 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8992:Zfp560
|
UTSW |
9 |
20,260,895 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Zfp560
|
UTSW |
9 |
20,259,000 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGTTTCTTCATTCCCTCCAACAA -3'
(R):5'- CAAGTCTGTGGGAAGGCATTCACAT -3'
Sequencing Primer
(F):5'- TTCCCTCCAACAAAAGAATTTATCTC -3'
(R):5'- gtgtgaggagtgtgggaaag -3'
|
| Posted On |
2014-02-14 |
Incidental Mutation