Incidental Mutation 'R4182:Zfp560'
ID |
319781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp560
|
Ensembl Gene |
ENSMUSG00000045519 |
Gene Name |
zinc finger protein 560 |
Synonyms |
2310030G09Rik |
MMRRC Submission |
041018-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4182 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
20256432-20296473 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20258744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 706
(I706T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068079]
|
AlphaFold |
Q3URI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068079
AA Change: I706T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000065620 Gene: ENSMUSG00000045519 AA Change: I706T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,928,801 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,120,999 (GRCm39) |
|
probably null |
Het |
Cfap20 |
A |
T |
8: 96,151,284 (GRCm39) |
I19N |
probably damaging |
Het |
Clnk |
T |
A |
5: 38,905,193 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,894,675 (GRCm39) |
|
probably null |
Het |
Cux2 |
C |
T |
5: 122,006,555 (GRCm39) |
G905D |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Ddx59 |
T |
A |
1: 136,367,599 (GRCm39) |
S569T |
probably benign |
Het |
Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
Dnajc21 |
T |
C |
15: 10,460,019 (GRCm39) |
|
probably null |
Het |
Fam217a |
T |
C |
13: 35,094,239 (GRCm39) |
T416A |
possibly damaging |
Het |
Gbp9 |
T |
A |
5: 105,231,461 (GRCm39) |
Q375L |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
H2-T24 |
A |
T |
17: 36,326,376 (GRCm39) |
N174K |
possibly damaging |
Het |
Heatr3 |
T |
C |
8: 88,897,630 (GRCm39) |
|
probably benign |
Het |
Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
Nbea |
A |
G |
3: 55,915,848 (GRCm39) |
C875R |
probably damaging |
Het |
Nme1 |
G |
A |
11: 93,851,630 (GRCm39) |
T87I |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,915,663 (GRCm39) |
S124P |
probably benign |
Het |
Nrap |
C |
T |
19: 56,338,759 (GRCm39) |
V907M |
probably damaging |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Or4f59 |
G |
T |
2: 111,872,873 (GRCm39) |
P168Q |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,860,336 (GRCm39) |
N464S |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,529,078 (GRCm39) |
I75V |
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,277,914 (GRCm39) |
P416S |
probably damaging |
Het |
Saal1 |
A |
G |
7: 46,360,076 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
G |
9: 113,925,053 (GRCm39) |
E312G |
probably benign |
Het |
Tgfb2 |
T |
A |
1: 186,361,222 (GRCm39) |
D315V |
possibly damaging |
Het |
Tll1 |
C |
T |
8: 64,494,545 (GRCm39) |
D737N |
probably damaging |
Het |
Tmem115 |
A |
G |
9: 107,412,482 (GRCm39) |
T269A |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,155,538 (GRCm39) |
D490G |
probably damaging |
Het |
Vmn1r72 |
C |
T |
7: 11,403,995 (GRCm39) |
R151K |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,606,395 (GRCm39) |
F317Y |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
R0002:Zfp560
|
UTSW |
9 |
20,258,813 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GAGTGAGTAGAGATGTCGAGTCC -3'
(R):5'- CACACTGGAGAGAAGCCCTTT -3'
Sequencing Primer
(F):5'- CAAGCCTACATGGTTGTTGCCAG -3'
(R):5'- GAGAAGCCCTTTGAGTGTAATG -3'
|
Posted On |
2015-06-10 |