Incidental Mutation 'IGL02433:Zfp524'
| ID |
293185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp524
|
| Ensembl Gene |
ENSMUSG00000051184 |
| Gene Name |
zinc finger protein 524 |
| Synonyms |
2300009P13Rik, 0610012F07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
IGL02433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
5018142-5021487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5021091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076251]
[ENSMUST00000077385]
[ENSMUST00000085427]
[ENSMUST00000086349]
[ENSMUST00000165320]
[ENSMUST00000167804]
[ENSMUST00000207030]
[ENSMUST00000209030]
[ENSMUST00000207901]
[ENSMUST00000207946]
[ENSMUST00000207412]
[ENSMUST00000208728]
[ENSMUST00000207050]
[ENSMUST00000208944]
[ENSMUST00000209060]
|
| AlphaFold |
Q9D0B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076251
|
| SMART Domains |
Protein: ENSMUSP00000075601
Gene: ENSMUSG00000074405
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
220 |
242 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
248 |
270 |
5.5e-3 |
SMART |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
324 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
350 |
372 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.92e-2 |
SMART |
|
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
542 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
546 |
568 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
574 |
596 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
602 |
624 |
1.72e-4 |
SMART |
|
low complexity region
|
628 |
660 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
664 |
686 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
692 |
714 |
2.82e0 |
SMART |
|
low complexity region
|
725 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
788 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
791 |
813 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
819 |
841 |
9.3e-1 |
SMART |
|
ZnF_C2H2
|
847 |
869 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
875 |
897 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
903 |
925 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
931 |
953 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
959 |
981 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
988 |
1010 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
1016 |
1038 |
4.72e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077385
|
| SMART Domains |
Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
29 |
51 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
113 |
136 |
4.72e-2 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
204 |
226 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
9.44e-2 |
SMART |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
357 |
2.12e1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
2.45e0 |
SMART |
|
low complexity region
|
404 |
414 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
418 |
440 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085427
|
| SMART Domains |
Protein: ENSMUSP00000082550
Gene: ENSMUSG00000074405
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
220 |
242 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
248 |
270 |
5.5e-3 |
SMART |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
324 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
350 |
372 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
407 |
429 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
1.92e-2 |
SMART |
|
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
542 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
546 |
568 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
574 |
596 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
602 |
624 |
1.72e-4 |
SMART |
|
low complexity region
|
628 |
660 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
664 |
686 |
5.34e-1 |
SMART |
|
ZnF_C2H2
|
692 |
714 |
2.82e0 |
SMART |
|
low complexity region
|
725 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086349
AA Change: N206K
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083533
Gene: ENSMUSG00000051184
AA Change: N206K
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
29 |
41 |
1.53e2 |
SMART |
|
AT_hook
|
51 |
63 |
1.09e0 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
7.26e-3 |
SMART |
|
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165320
|
| SMART Domains |
Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
29 |
51 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
113 |
136 |
4.72e-2 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
204 |
226 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
9.44e-2 |
SMART |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
357 |
2.12e1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
2.45e0 |
SMART |
|
low complexity region
|
404 |
414 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
418 |
440 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167804
|
| SMART Domains |
Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
29 |
51 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
113 |
136 |
4.72e-2 |
SMART |
|
low complexity region
|
140 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
204 |
226 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
9.44e-2 |
SMART |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
357 |
2.12e1 |
SMART |
|
ZnF_C2H2
|
363 |
386 |
2.45e0 |
SMART |
|
low complexity region
|
404 |
414 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
418 |
440 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
4.05e-1 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207030
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209030
AA Change: N206K
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207901
AA Change: N206K
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209060
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
T |
C |
3: 73,609,262 (GRCm39) |
T55A |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,804,372 (GRCm39) |
D634G |
unknown |
Het |
| Cnot2 |
T |
C |
10: 116,328,241 (GRCm39) |
T498A |
possibly damaging |
Het |
| Dock10 |
C |
T |
1: 80,507,905 (GRCm39) |
V1669M |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,124 (GRCm39) |
E534G |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,951 (GRCm39) |
Y11C |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,514 (GRCm39) |
|
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,939,221 (GRCm39) |
Y232C |
probably damaging |
Het |
| Muc19 |
G |
A |
15: 91,756,694 (GRCm39) |
|
noncoding transcript |
Het |
| Myof |
A |
G |
19: 37,960,641 (GRCm39) |
S467P |
probably benign |
Het |
| Nup88 |
C |
T |
11: 70,860,714 (GRCm39) |
V22I |
probably benign |
Het |
| Or4f14 |
G |
T |
2: 111,742,762 (GRCm39) |
P171Q |
probably damaging |
Het |
| Or6c6c |
A |
T |
10: 129,541,445 (GRCm39) |
T233S |
probably benign |
Het |
| Or8h9 |
A |
G |
2: 86,789,392 (GRCm39) |
S137P |
possibly damaging |
Het |
| Prag1 |
C |
T |
8: 36,606,722 (GRCm39) |
P821L |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,382,007 (GRCm39) |
G230S |
possibly damaging |
Het |
| Tap2 |
G |
A |
17: 34,424,393 (GRCm39) |
|
probably benign |
Het |
| Tmem68 |
A |
T |
4: 3,569,624 (GRCm39) |
I22N |
possibly damaging |
Het |
| Usp17le |
A |
G |
7: 104,418,408 (GRCm39) |
W245R |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,550,446 (GRCm39) |
C976F |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,264,979 (GRCm39) |
S94P |
possibly damaging |
Het |
|
| Other mutations in Zfp524 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02061:Zfp524
|
APN |
7 |
5,020,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Zfp524
|
APN |
7 |
5,020,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2211:Zfp524
|
UTSW |
7 |
5,020,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Zfp524
|
UTSW |
7 |
5,020,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Zfp524
|
UTSW |
7 |
5,021,347 (GRCm39) |
missense |
probably benign |
|
|
R5022:Zfp524
|
UTSW |
7 |
5,021,416 (GRCm39) |
missense |
probably benign |
|
|
R5356:Zfp524
|
UTSW |
7 |
5,021,432 (GRCm39) |
missense |
probably benign |
|
|
R5580:Zfp524
|
UTSW |
7 |
5,021,416 (GRCm39) |
missense |
probably benign |
|
|
R7076:Zfp524
|
UTSW |
7 |
5,020,895 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7199:Zfp524
|
UTSW |
7 |
5,020,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7471:Zfp524
|
UTSW |
7 |
5,021,200 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation