Incidental Mutation 'IGL01097:Zfp523'
| ID |
53056 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01097
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28396136-28424860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28420023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 223
(K223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002318]
[ENSMUST00000073534]
[ENSMUST00000133868]
[ENSMUST00000155030]
|
| AlphaFold |
Q8BMU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002318
AA Change: K223E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: K223E
| 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 |
possibly damaging
Transcript: ENSMUST00000073534
AA Change: K223E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: K223E
| 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: ENSMUST00000129522
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133868
AA Change: K142E
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220
AA Change: K142E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117730
Gene: ENSMUSG00000024220
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161275
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
C |
T |
1: 60,486,505 (GRCm39) |
A75V |
probably damaging |
Het |
| Bud23 |
G |
A |
5: 135,089,935 (GRCm39) |
A86V |
probably damaging |
Het |
| Dnajc5 |
T |
C |
2: 181,189,149 (GRCm39) |
Y42H |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,100,810 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
C |
A |
2: 90,606,694 (GRCm39) |
A835D |
possibly damaging |
Het |
| Gm57859 |
T |
C |
11: 113,583,296 (GRCm39) |
I541T |
probably benign |
Het |
| Grin2d |
A |
T |
7: 45,502,716 (GRCm39) |
N718K |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,528,398 (GRCm39) |
K357E |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,081,010 (GRCm39) |
|
probably null |
Het |
| Lrrtm2 |
A |
T |
18: 35,345,994 (GRCm39) |
I436N |
probably damaging |
Het |
| Mterf2 |
T |
A |
10: 84,955,677 (GRCm39) |
I316L |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,220,942 (GRCm39) |
A1710T |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,963,003 (GRCm39) |
V338A |
possibly damaging |
Het |
| Or2f2 |
T |
G |
6: 42,767,077 (GRCm39) |
Y35D |
probably damaging |
Het |
| Or52a20 |
G |
T |
7: 103,366,328 (GRCm39) |
V176F |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,684,718 (GRCm39) |
Y807C |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,545 (GRCm39) |
L246P |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,490,801 (GRCm39) |
S407P |
probably damaging |
Het |
| Ttpal |
T |
C |
2: 163,449,240 (GRCm39) |
Y32H |
probably damaging |
Het |
|
| Other mutations in Zfp523 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2864:Zfp523
|
UTSW |
17 |
28,421,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation