Incidental Mutation 'R5758:Zfp563'
| ID |
445159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp563
|
| Ensembl Gene |
ENSMUSG00000067424 |
| Gene Name |
zinc finger protein 563 |
| Synonyms |
zinc finger protein, Zfp413 |
| MMRRC Submission |
043203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5758 (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 G
at 33323894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 163
(H163R)
|
| 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: H163R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118809
Gene: ENSMUSG00000067424
AA Change: H163R
| 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 damaging
Transcript: ENSMUST00000140829
AA Change: H163R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121678
Gene: ENSMUSG00000067424
AA Change: H163R
| 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: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,536 (GRCm39) |
N2973D |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,750,962 (GRCm39) |
E1911V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,292,531 (GRCm39) |
N193S |
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,180,154 (GRCm39) |
D81G |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,190 (GRCm39) |
V301A |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,825,465 (GRCm39) |
G1556D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,862,288 (GRCm39) |
L598P |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,638,717 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,380,248 (GRCm39) |
I142F |
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,276,886 (GRCm39) |
V338M |
probably damaging |
Het |
| Dpys |
A |
C |
15: 39,690,395 (GRCm39) |
D319E |
possibly damaging |
Het |
| Dsc3 |
A |
G |
18: 20,122,591 (GRCm39) |
V111A |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,888,442 (GRCm39) |
V14A |
probably benign |
Het |
| Hebp2 |
C |
A |
10: 18,420,155 (GRCm39) |
V93L |
probably damaging |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,009 (GRCm39) |
S78T |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,043 (GRCm39) |
D1036E |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,868,982 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
C |
9: 110,318,947 (GRCm39) |
V143A |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,976 (GRCm39) |
I517V |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,599,393 (GRCm39) |
F458S |
probably damaging |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,067 (GRCm39) |
M161I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,720 (GRCm39) |
I1889F |
unknown |
Het |
| Mysm1 |
A |
G |
4: 94,840,598 (GRCm39) |
V606A |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,179,874 (GRCm39) |
D348G |
probably benign |
Het |
| Olfml2b |
G |
A |
1: 170,496,833 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
T |
C |
7: 107,414,022 (GRCm39) |
V77A |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,369 (GRCm39) |
V197D |
probably benign |
Het |
| Orc5 |
T |
C |
5: 22,734,256 (GRCm39) |
D176G |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,559,470 (GRCm39) |
N1041S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Sar1a |
A |
G |
10: 61,520,851 (GRCm39) |
Y22C |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,799,355 (GRCm39) |
|
probably null |
Het |
| Smim17 |
C |
T |
7: 6,427,788 (GRCm39) |
H25Y |
possibly damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,791 (GRCm39) |
D135G |
probably damaging |
Het |
| Trim10 |
C |
T |
17: 37,188,044 (GRCm39) |
T420I |
possibly damaging |
Het |
| Trip13 |
G |
T |
13: 74,085,614 (GRCm39) |
S29R |
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,211,746 (GRCm39) |
G420C |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,408 (GRCm39) |
V226D |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,780,256 (GRCm39) |
*633Q |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,467,680 (GRCm39) |
K2613E |
probably damaging |
Het |
| Zfp236 |
G |
A |
18: 82,689,834 (GRCm39) |
T215M |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- AAACCTCTCATGGAGTAAAACGG -3'
(R):5'- TTACATACAAAGGGTTTCTCTCCG -3'
Sequencing Primer
(F):5'- TCTCATGGAGTAAAACGGTGTGAAAG -3'
(R):5'- CGCTGTGAATCCTGTCATGACG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation