Incidental Mutation 'IGL02061:Zfp524'
| ID |
185395 |
| 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: 0.240)
|
| Stock # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
5018142-5021487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5020871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 133
(E133G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076251]
[ENSMUST00000077385]
[ENSMUST00000085427]
[ENSMUST00000086349]
[ENSMUST00000165320]
[ENSMUST00000167804]
[ENSMUST00000207030]
[ENSMUST00000209030]
[ENSMUST00000207050]
[ENSMUST00000207901]
[ENSMUST00000208944]
[ENSMUST00000209060]
[ENSMUST00000207412]
[ENSMUST00000207946]
[ENSMUST00000208728]
|
| 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 |
probably benign
Transcript: ENSMUST00000086349
AA Change: E133G
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083533
Gene: ENSMUSG00000051184
AA Change: E133G
| 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 |
probably benign
Transcript: ENSMUST00000209030
AA Change: E133G
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207050
AA Change: E133G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207901
AA Change: E133G
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209060
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208728
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
|
| Other mutations in Zfp524 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02433:Zfp524
|
APN |
7 |
5,021,091 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
2014-05-07 |
Incidental Mutation