Incidental Mutation 'R0552:Zfp563'
| ID |
45262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp563
|
| Ensembl Gene |
ENSMUSG00000067424 |
| Gene Name |
zinc finger protein 563 |
| Synonyms |
zinc finger protein, Zfp413 |
| MMRRC Submission |
038744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0552 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33308284-33329679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33323659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 85
(S85C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131722]
[ENSMUST00000140829]
|
| AlphaFold |
B8JJZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131722
AA Change: S85C
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118809
Gene: ENSMUSG00000067424
AA Change: S85C
| 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 |
unknown
Transcript: ENSMUST00000140829
AA Change: S85C
|
| SMART Domains |
Protein: ENSMUSP00000121678
Gene: ENSMUSG00000067424
AA Change: S85C
| 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 |
unknown
Transcript: ENSMUST00000153072
AA Change: S125C
|
| SMART Domains |
Protein: ENSMUSP00000119142
Gene: ENSMUSG00000067424
AA Change: S125C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
KRAB
|
45 |
102 |
5.45e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.1113 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
T |
8: 25,453,026 (GRCm39) |
N760K |
probably benign |
Het |
| Ahcyl |
T |
A |
16: 45,974,955 (GRCm39) |
T141S |
probably benign |
Het |
| Akr1b10 |
A |
G |
6: 34,369,920 (GRCm39) |
T216A |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,232,993 (GRCm39) |
R580G |
probably benign |
Het |
| C9 |
A |
T |
15: 6,474,918 (GRCm39) |
I26F |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,533,041 (GRCm39) |
E578G |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,622,536 (GRCm39) |
V510I |
probably benign |
Het |
| Dab2 |
C |
T |
15: 6,464,895 (GRCm39) |
T561I |
possibly damaging |
Het |
| Golga5 |
A |
T |
12: 102,450,752 (GRCm39) |
E12D |
possibly damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,874,280 (GRCm39) |
F208I |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,579,008 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
T |
A |
15: 99,127,337 (GRCm39) |
W378R |
probably damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lcn3 |
T |
C |
2: 25,656,421 (GRCm39) |
|
probably null |
Het |
| Mppe1 |
A |
G |
18: 67,370,419 (GRCm39) |
|
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,300 (GRCm39) |
A359V |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,263,105 (GRCm39) |
D1765G |
probably damaging |
Het |
| Or10j2 |
T |
C |
1: 173,098,372 (GRCm39) |
M210T |
probably benign |
Het |
| Or4c10b |
C |
T |
2: 89,711,235 (GRCm39) |
Q22* |
probably null |
Het |
| Or5p58 |
A |
G |
7: 107,693,985 (GRCm39) |
M264T |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,757,916 (GRCm39) |
L182Q |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,967,095 (GRCm39) |
N412S |
probably benign |
Het |
| Phyh |
A |
G |
2: 4,940,912 (GRCm39) |
T271A |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,352,942 (GRCm39) |
S258P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,291,463 (GRCm39) |
E2G |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,723,550 (GRCm39) |
Q2115K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,732,129 (GRCm39) |
E44G |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,395,721 (GRCm39) |
N712I |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,095,985 (GRCm39) |
M303T |
possibly damaging |
Het |
| Ssbp4 |
A |
G |
8: 71,052,509 (GRCm39) |
I154T |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,977,778 (GRCm39) |
K1409E |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,304,449 (GRCm39) |
Y420H |
probably damaging |
Het |
| Tlr5 |
A |
G |
1: 182,803,261 (GRCm39) |
|
probably null |
Het |
| Tmprss15 |
C |
T |
16: 78,821,637 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
T |
1: 73,959,722 (GRCm39) |
I418N |
probably damaging |
Het |
| Txlna |
A |
T |
4: 129,522,984 (GRCm39) |
V452D |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,504 (GRCm39) |
I161N |
possibly 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 |
|
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 |
|
R5280:Zfp563
|
UTSW |
17 |
33,323,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCAGCACAGCAAGAAGCAAGACT -3'
(R):5'- AATGGTGTGGGTATTTCCATGTTTCAGA -3'
Sequencing Primer
(F):5'- GCATAATGGCATGGGCATTC -3'
(R):5'- CCATGTTTCAGATAGCACTCAGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation