Incidental Mutation 'IGL01405:Zfp523'
ID |
79774 |
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 # |
IGL01405
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
28396136-28424860 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28423480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 152
(S152P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117730
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002318]
[ENSMUST00000002327]
[ENSMUST00000073534]
[ENSMUST00000133868]
[ENSMUST00000155030]
|
AlphaFold |
Q8BMU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002318
AA Change: S516P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002318 Gene: ENSMUSG00000024220 AA Change: S516P
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: ENSMUST00000002327
|
SMART Domains |
Protein: ENSMUSP00000002327 Gene: ENSMUSG00000002257
Domain | Start | End | E-Value | Type |
low complexity region
|
145 |
166 |
N/A |
INTRINSIC |
PH
|
217 |
314 |
3.87e-20 |
SMART |
coiled coil region
|
318 |
551 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073534
AA Change: S516P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073226 Gene: ENSMUSG00000024220 AA Change: S516P
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 |
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 |
probably damaging
Transcript: ENSMUST00000155030
AA Change: S152P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117730 Gene: ENSMUSG00000024220 AA Change: S152P
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151595
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
Ddost |
A |
G |
4: 138,039,014 (GRCm39) |
D378G |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
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 |
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 |
2013-11-05 |