Incidental Mutation 'R0019:Zfp560'
| ID |
201351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp560
|
| Ensembl Gene |
ENSMUSG00000045519 |
| Gene Name |
zinc finger protein 560 |
| Synonyms |
2310030G09Rik |
| MMRRC Submission |
038314-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0019 (G1)
|
| Quality Score |
35 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20256432-20296473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20259656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 402
(S402L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068079]
[ENSMUST00000143992]
|
| AlphaFold |
Q3URI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068079
AA Change: S402L
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065620
Gene: ENSMUSG00000045519
AA Change: S402L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214965
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,974,287 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
A |
5: 114,924,142 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,064,795 (GRCm39) |
V737D |
probably damaging |
Het |
| Dhx37 |
C |
A |
5: 125,507,098 (GRCm39) |
G133C |
probably benign |
Het |
| Espl1 |
A |
C |
15: 102,214,754 (GRCm39) |
Q765P |
probably null |
Het |
| Fasn |
A |
T |
11: 120,698,824 (GRCm39) |
|
probably benign |
Het |
| Fshb |
T |
C |
2: 106,887,690 (GRCm39) |
S110G |
probably benign |
Het |
| Gsap |
T |
C |
5: 21,475,620 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,862,050 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
C |
T |
1: 40,164,210 (GRCm39) |
T359M |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,584,330 (GRCm39) |
R905* |
probably null |
Het |
| Myh7 |
T |
A |
14: 55,221,191 (GRCm39) |
N911Y |
possibly damaging |
Het |
| Nfatc1 |
C |
A |
18: 80,678,719 (GRCm39) |
V890L |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,577,017 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,241,932 (GRCm39) |
L273M |
probably damaging |
Het |
| Pycr3 |
A |
G |
15: 75,791,155 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,769 (GRCm39) |
V1737A |
possibly damaging |
Het |
| Sstr1 |
T |
C |
12: 58,259,935 (GRCm39) |
L186S |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,004,958 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,768 (GRCm39) |
Y533D |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,096,990 (GRCm39) |
I121T |
possibly damaging |
Het |
| Vinac1 |
G |
T |
2: 128,880,946 (GRCm39) |
H327N |
probably benign |
Het |
| Ywhab |
T |
A |
2: 163,858,090 (GRCm39) |
I219N |
probably damaging |
Het |
| Zfp943 |
C |
T |
17: 22,211,070 (GRCm39) |
|
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 |
|
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'- TCCCACAGACTTGACACTCGAAGG -3'
(R):5'- GACAAACTCTCTGAGTCGGTGCAG -3'
Sequencing Primer
(F):5'- TGACACTCGAAGGGCTTCTC -3'
(R):5'- gaatgtaaggaatgtgggaagag -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation