Incidental Mutation 'R5280:Zfp563'
| ID |
404177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp563
|
| Ensembl Gene |
ENSMUSG00000067424 |
| Gene Name |
zinc finger protein 563 |
| Synonyms |
zinc finger protein, Zfp413 |
| MMRRC Submission |
042840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5280 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33308284-33329679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33323812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 136
(Y136D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131722]
[ENSMUST00000140829]
|
| AlphaFold |
B8JJZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131722
AA Change: Y136D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118809
Gene: ENSMUSG00000067424
AA Change: Y136D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
5.45e-16 |
SMART |
|
ZnF_C2H2
|
141 |
163 |
2.63e2 |
SMART |
|
ZnF_C2H2
|
169 |
191 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
197 |
219 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
225 |
247 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
3.63e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140829
AA Change: Y136D
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121678
Gene: ENSMUSG00000067424
AA Change: Y136D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
61 |
5.45e-16 |
SMART |
|
ZnF_C2H2
|
141 |
163 |
2.63e2 |
SMART |
|
ZnF_C2H2
|
169 |
191 |
9.08e-4 |
SMART |
|
Pfam:zf-C2H2_4
|
197 |
209 |
9.4e-2 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153072
|
| SMART Domains |
Protein: ENSMUSP00000119142
Gene: ENSMUSG00000067424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
KRAB
|
45 |
102 |
5.45e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
C |
T |
17: 43,737,225 (GRCm39) |
T218I |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,545,584 (GRCm39) |
S5567I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,813 (GRCm39) |
T397A |
probably benign |
Het |
| Atp9a |
T |
A |
2: 168,481,908 (GRCm39) |
Y880F |
possibly damaging |
Het |
| Celsr1 |
T |
C |
15: 85,814,747 (GRCm39) |
T1905A |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,442,582 (GRCm39) |
A656V |
possibly damaging |
Het |
| Dffa |
A |
G |
4: 149,202,391 (GRCm39) |
N265S |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,674,545 (GRCm39) |
D109G |
probably benign |
Het |
| Gm20821 |
A |
T |
Y: 9,783,963 (GRCm39) |
K195M |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,870 (GRCm39) |
N289K |
unknown |
Het |
| Kank1 |
T |
C |
19: 25,388,669 (GRCm39) |
F781L |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,232,329 (GRCm39) |
M759L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,711,518 (GRCm39) |
Y307C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,037,168 (GRCm39) |
H6847R |
probably damaging |
Het |
| Or2ag19 |
G |
A |
7: 106,443,902 (GRCm39) |
C28Y |
probably benign |
Het |
| Or52ab4 |
T |
C |
7: 102,987,708 (GRCm39) |
V149A |
probably benign |
Het |
| Pcdha5 |
C |
A |
18: 37,094,755 (GRCm39) |
Y421* |
probably null |
Het |
| Pclo |
T |
A |
5: 14,590,731 (GRCm39) |
D1010E |
unknown |
Het |
| Pld2 |
A |
T |
11: 70,443,585 (GRCm39) |
D449V |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,038,832 (GRCm39) |
M1032I |
possibly damaging |
Het |
| Prickle2 |
C |
A |
6: 92,353,191 (GRCm39) |
L758F |
probably damaging |
Het |
| Sarm1 |
A |
G |
11: 78,374,302 (GRCm39) |
V564A |
probably damaging |
Het |
| Taf1b |
C |
A |
12: 24,599,437 (GRCm39) |
F398L |
probably benign |
Het |
| Tll2 |
A |
G |
19: 41,105,696 (GRCm39) |
I361T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,742,716 (GRCm39) |
V517A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,198,411 (GRCm39) |
K106E |
probably benign |
Het |
| Vcan |
C |
A |
13: 89,838,405 (GRCm39) |
V2380F |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,542 (GRCm39) |
S381P |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,507,155 (GRCm39) |
D719G |
probably damaging |
Het |
| Wdr5b |
T |
C |
16: 35,862,202 (GRCm39) |
V107A |
probably benign |
Het |
| Wdr7 |
G |
T |
18: 64,120,383 (GRCm39) |
V1475F |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,688 (GRCm39) |
D911G |
probably damaging |
Het |
| Zbtb32 |
T |
A |
7: 30,289,629 (GRCm39) |
E11V |
probably damaging |
Het |
|
| Other mutations in Zfp563 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Zfp563
|
APN |
17 |
33,323,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Zfp563
|
APN |
17 |
33,324,383 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02407:Zfp563
|
APN |
17 |
33,323,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02662:Zfp563
|
APN |
17 |
33,321,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Zfp563
|
APN |
17 |
33,323,661 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0241:Zfp563
|
UTSW |
17 |
33,323,659 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0241:Zfp563
|
UTSW |
17 |
33,323,659 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0537:Zfp563
|
UTSW |
17 |
33,323,659 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0552:Zfp563
|
UTSW |
17 |
33,323,659 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1544:Zfp563
|
UTSW |
17 |
33,324,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3763:Zfp563
|
UTSW |
17 |
33,323,902 (GRCm39) |
nonsense |
probably null |
|
|
R3979:Zfp563
|
UTSW |
17 |
33,324,701 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4938:Zfp563
|
UTSW |
17 |
33,324,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:Zfp563
|
UTSW |
17 |
33,323,681 (GRCm39) |
missense |
probably benign |
|
|
R5485:Zfp563
|
UTSW |
17 |
33,308,540 (GRCm39) |
unclassified |
probably benign |
|
|
R5524:Zfp563
|
UTSW |
17 |
33,321,515 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5567:Zfp563
|
UTSW |
17 |
33,308,431 (GRCm39) |
unclassified |
probably benign |
|
|
R5736:Zfp563
|
UTSW |
17 |
33,323,960 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5758:Zfp563
|
UTSW |
17 |
33,323,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Zfp563
|
UTSW |
17 |
33,323,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6034:Zfp563
|
UTSW |
17 |
33,323,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6532:Zfp563
|
UTSW |
17 |
33,324,672 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9241:Zfp563
|
UTSW |
17 |
33,321,520 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9360:Zfp563
|
UTSW |
17 |
33,324,428 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9410:Zfp563
|
UTSW |
17 |
33,321,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Zfp563
|
UTSW |
17 |
33,308,565 (GRCm39) |
missense |
|
|
|
RF007:Zfp563
|
UTSW |
17 |
33,323,999 (GRCm39) |
missense |
probably benign |
|
|
X0023:Zfp563
|
UTSW |
17 |
33,324,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTATAAACCCAGTGAAGGCAGAC -3'
(R):5'- TCCCACAGTGGTTACATATGTAGG -3'
Sequencing Primer
(F):5'- CAATGTGACGGAATCTTCAGTG -3'
(R):5'- GGTTACATATGTAGGGTTTCTCACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation