Incidental Mutation 'R4509:Zfp560'
| ID |
331124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp560
|
| Ensembl Gene |
ENSMUSG00000045519 |
| Gene Name |
zinc finger protein 560 |
| Synonyms |
2310030G09Rik |
| MMRRC Submission |
041758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4509 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20256432-20296473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20260019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 281
(C281Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068079]
[ENSMUST00000143992]
|
| AlphaFold |
Q3URI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068079
AA Change: C281Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065620
Gene: ENSMUSG00000045519
AA Change: C281Y
| 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 |
0.3061 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,857,581 (GRCm39) |
L657P |
probably damaging |
Het |
| Adam4 |
A |
T |
12: 81,468,521 (GRCm39) |
C33* |
probably null |
Het |
| Adam6b |
T |
C |
12: 113,453,972 (GRCm39) |
V263A |
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,718,339 (GRCm39) |
F2011L |
probably benign |
Het |
| Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,818,928 (GRCm39) |
Y1209C |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,571,844 (GRCm39) |
T484M |
probably benign |
Het |
| Ccdc178 |
T |
C |
18: 22,200,449 (GRCm39) |
N452D |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
T |
C |
3: 104,940,063 (GRCm39) |
N2S |
probably damaging |
Het |
| Gm15032 |
A |
T |
X: 141,405,622 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmg |
G |
A |
14: 56,394,210 (GRCm39) |
P228L |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,364,964 (GRCm39) |
D221V |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,715,883 (GRCm39) |
R2022C |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,064,770 (GRCm39) |
Y375H |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
| Perm1 |
T |
C |
4: 156,302,043 (GRCm39) |
S196P |
probably benign |
Het |
| Pik3c2g |
A |
T |
6: 139,665,732 (GRCm39) |
T18S |
probably benign |
Het |
| Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,565,569 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,286,347 (GRCm39) |
S316P |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,501,823 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,668 (GRCm39) |
M242V |
probably damaging |
Het |
| Repin1 |
T |
C |
6: 48,573,460 (GRCm39) |
C130R |
possibly damaging |
Het |
| Rrp1 |
G |
T |
10: 78,248,656 (GRCm39) |
T44K |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,939,710 (GRCm39) |
Y88C |
probably damaging |
Het |
| Socs1 |
C |
T |
16: 10,602,218 (GRCm39) |
R173Q |
probably benign |
Het |
| Speer3 |
T |
G |
5: 13,846,368 (GRCm39) |
N229K |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,204,086 (GRCm39) |
I226F |
probably damaging |
Het |
| Tdp1 |
G |
A |
12: 99,921,324 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,396,279 (GRCm39) |
S521N |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
| Ubqln3 |
G |
A |
7: 103,790,651 (GRCm39) |
L480F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,789,172 (GRCm39) |
P3817L |
probably damaging |
Het |
| Xpr1 |
A |
G |
1: 155,165,907 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,520,411 (GRCm39) |
E511G |
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 |
|
|
R4182:Zfp560
|
UTSW |
9 |
20,258,744 (GRCm39) |
missense |
probably benign |
0.11 |
|
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'- GAGGAATTTCTAAAGCATTTCCCAC -3'
(R):5'- CAGCTTACCAGACAACATGTG -3'
Sequencing Primer
(F):5'- CAAACCTTACATTCAAAGGGCTTCTC -3'
(R):5'- GCTTACCAGACAACATGTGTACAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation