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: 0.059)
|
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 |