Incidental Mutation 'IGL02983:Zfp526'
| ID |
406642 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp526
|
| Ensembl Gene |
ENSMUSG00000046541 |
| Gene Name |
zinc finger protein 526 |
| Synonyms |
D030024H03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
IGL02983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24920850-24926932 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24923840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 33
(A33V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055604]
[ENSMUST00000058702]
[ENSMUST00000071739]
[ENSMUST00000108411]
[ENSMUST00000205271]
|
| AlphaFold |
Q8BI66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055604
AA Change: A33V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000053567
Gene: ENSMUSG00000046541
AA Change: A33V
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
56 |
78 |
1.41e0 |
SMART |
|
low complexity region
|
79 |
90 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
108 |
130 |
9.46e0 |
SMART |
|
ZnF_C2H2
|
140 |
163 |
4.65e-1 |
SMART |
|
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
200 |
222 |
4.72e-2 |
SMART |
|
coiled coil region
|
234 |
254 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
280 |
303 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
3.29e-1 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
4.65e-1 |
SMART |
|
ZnF_C2H2
|
395 |
416 |
3.56e1 |
SMART |
|
ZnF_C2H2
|
447 |
470 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
8.22e-2 |
SMART |
|
low complexity region
|
610 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058702
|
| SMART Domains |
Protein: ENSMUSP00000049763
Gene: ENSMUSG00000054499
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
24 |
104 |
6.34e-13 |
SMART |
|
low complexity region
|
130 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071739
|
| SMART Domains |
Protein: ENSMUSP00000071654
Gene: ENSMUSG00000057177
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
90 |
N/A |
INTRINSIC |
|
S_TKc
|
119 |
404 |
3.11e-84 |
SMART |
|
low complexity region
|
481 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108411
|
| SMART Domains |
Protein: ENSMUSP00000104049
Gene: ENSMUSG00000057177
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
90 |
N/A |
INTRINSIC |
|
S_TKc
|
119 |
404 |
3.11e-84 |
SMART |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169914
|
| SMART Domains |
Protein: ENSMUSP00000126890
Gene: ENSMUSG00000090330
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190693
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206788
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
| Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
| Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
| Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
| Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
| Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
| Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
| Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
| Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
| Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
| Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
| Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
| Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
| Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
|
| Other mutations in Zfp526 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02255:Zfp526
|
APN |
7 |
24,924,958 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03123:Zfp526
|
APN |
7 |
24,924,049 (GRCm39) |
missense |
probably benign |
|
|
R0456:Zfp526
|
UTSW |
7 |
24,925,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1269:Zfp526
|
UTSW |
7 |
24,923,788 (GRCm39) |
missense |
probably benign |
|
|
R1542:Zfp526
|
UTSW |
7 |
24,925,687 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1668:Zfp526
|
UTSW |
7 |
24,924,967 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1742:Zfp526
|
UTSW |
7 |
24,923,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1870:Zfp526
|
UTSW |
7 |
24,924,594 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3791:Zfp526
|
UTSW |
7 |
24,925,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4755:Zfp526
|
UTSW |
7 |
24,925,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4833:Zfp526
|
UTSW |
7 |
24,925,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Zfp526
|
UTSW |
7 |
24,925,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5853:Zfp526
|
UTSW |
7 |
24,924,601 (GRCm39) |
nonsense |
probably null |
|
|
R6061:Zfp526
|
UTSW |
7 |
24,925,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Zfp526
|
UTSW |
7 |
24,925,561 (GRCm39) |
missense |
probably benign |
|
|
R7270:Zfp526
|
UTSW |
7 |
24,925,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Zfp526
|
UTSW |
7 |
24,920,860 (GRCm39) |
unclassified |
probably benign |
|
|
R8084:Zfp526
|
UTSW |
7 |
24,924,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9016:Zfp526
|
UTSW |
7 |
24,925,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation