Incidental Mutation 'R2864:Zfp523'
| ID |
253132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp523
|
| Ensembl Gene |
ENSMUSG00000024220 |
| Gene Name |
zinc finger protein 523 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R2864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28396136-28424860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28421514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 60
(V60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002318]
[ENSMUST00000073534]
[ENSMUST00000133868]
[ENSMUST00000155030]
|
| AlphaFold |
Q8BMU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002318
AA Change: V424A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: V424A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
7 |
45 |
7.42e-6 |
PROSPERO |
|
internal_repeat_1
|
60 |
99 |
7.42e-6 |
PROSPERO |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
189 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
195 |
219 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
225 |
249 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
255 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
309 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
315 |
339 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
345 |
368 |
5.06e-2 |
SMART |
|
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073534
AA Change: V424A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: V424A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
7 |
45 |
7.42e-6 |
PROSPERO |
|
internal_repeat_1
|
60 |
99 |
7.42e-6 |
PROSPERO |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
189 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
195 |
219 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
225 |
249 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
255 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
309 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
315 |
339 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
345 |
368 |
5.06e-2 |
SMART |
|
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129522
AA Change: V25A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133868
|
| SMART Domains |
Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
84 |
108 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
114 |
138 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
144 |
168 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
174 |
198 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
204 |
228 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
234 |
257 |
5.06e-2 |
SMART |
|
low complexity region
|
264 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155030
AA Change: V60A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117730
Gene: ENSMUSG00000024220
AA Change: V60A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161275
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap30 |
G |
T |
1: 171,235,774 (GRCm39) |
G716V |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,211 (GRCm39) |
V266A |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,780,072 (GRCm39) |
F624L |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,578 (GRCm39) |
V1656A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Lrp1b |
G |
T |
2: 40,765,007 (GRCm39) |
Q2826K |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,431,744 (GRCm39) |
F1357S |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Misp |
A |
G |
10: 79,662,872 (GRCm39) |
K430E |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,744,226 (GRCm39) |
|
probably null |
Het |
| Or8b43 |
A |
G |
9: 38,360,684 (GRCm39) |
N172S |
possibly damaging |
Het |
| Paqr3 |
C |
T |
5: 97,247,595 (GRCm39) |
R171H |
possibly damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,428,189 (GRCm39) |
V72A |
probably damaging |
Het |
| Prickle1 |
C |
T |
15: 93,407,159 (GRCm39) |
G112R |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,557 (GRCm39) |
E1050G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,323 (GRCm39) |
I732F |
probably damaging |
Het |
| Xkr6 |
T |
C |
14: 64,057,205 (GRCm39) |
L372P |
unknown |
Het |
|
| Other mutations in Zfp523 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01097:Zfp523
|
APN |
17 |
28,420,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01405:Zfp523
|
APN |
17 |
28,423,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02430:Zfp523
|
APN |
17 |
28,414,113 (GRCm39) |
unclassified |
probably benign |
|
|
R0496:Zfp523
|
UTSW |
17 |
28,419,419 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1533:Zfp523
|
UTSW |
17 |
28,423,473 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1837:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1838:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1839:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2023:Zfp523
|
UTSW |
17 |
28,419,978 (GRCm39) |
unclassified |
probably benign |
|
|
R2104:Zfp523
|
UTSW |
17 |
28,414,190 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2403:Zfp523
|
UTSW |
17 |
28,414,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Zfp523
|
UTSW |
17 |
28,421,257 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4214:Zfp523
|
UTSW |
17 |
28,420,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4771:Zfp523
|
UTSW |
17 |
28,420,312 (GRCm39) |
splice site |
probably null |
|
|
R5869:Zfp523
|
UTSW |
17 |
28,413,967 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5950:Zfp523
|
UTSW |
17 |
28,421,532 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6443:Zfp523
|
UTSW |
17 |
28,420,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6679:Zfp523
|
UTSW |
17 |
28,421,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Zfp523
|
UTSW |
17 |
28,419,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Zfp523
|
UTSW |
17 |
28,420,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Zfp523
|
UTSW |
17 |
28,420,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Zfp523
|
UTSW |
17 |
28,421,562 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9001:Zfp523
|
UTSW |
17 |
28,408,915 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9406:Zfp523
|
UTSW |
17 |
28,416,840 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGCTGTGGCAAGACCTAC -3'
(R):5'- CAGATCTAGCTCTCTAAAGCCC -3'
Sequencing Primer
(F):5'- CTGTATGAGCAGCAGCAGC -3'
(R):5'- TCTAGCTCTCTAAAGCCCATAAAGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation