Incidental Mutation 'IGL02451:Zfp532'
| ID |
293664 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp532
|
| Ensembl Gene |
ENSMUSG00000042439 |
| Gene Name |
zinc finger protein 532 |
| Synonyms |
C530030I18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65756672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 202
(R202G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182140]
[ENSMUST00000182319]
[ENSMUST00000182478]
[ENSMUST00000182655]
[ENSMUST00000182684]
[ENSMUST00000182979]
[ENSMUST00000182852]
[ENSMUST00000183326]
[ENSMUST00000183236]
[ENSMUST00000183319]
[ENSMUST00000182973]
|
| AlphaFold |
Q6NXK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049016
AA Change: R202G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: R202G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
253 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
615 |
635 |
7.18e1 |
SMART |
|
ZnF_C2H2
|
643 |
667 |
1.23e1 |
SMART |
|
low complexity region
|
726 |
738 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
751 |
772 |
4.57e0 |
SMART |
|
ZnF_C2H2
|
784 |
807 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
814 |
840 |
1.43e-1 |
SMART |
|
low complexity region
|
860 |
872 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
909 |
931 |
1.31e0 |
SMART |
|
ZnF_C2H2
|
938 |
961 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
999 |
1021 |
6.88e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169679
AA Change: R202G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: R202G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
253 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
615 |
635 |
7.18e1 |
SMART |
|
ZnF_C2H2
|
643 |
667 |
1.23e1 |
SMART |
|
low complexity region
|
726 |
738 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
751 |
772 |
4.57e0 |
SMART |
|
ZnF_C2H2
|
784 |
807 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
814 |
840 |
1.43e-1 |
SMART |
|
low complexity region
|
860 |
872 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
909 |
931 |
1.31e0 |
SMART |
|
ZnF_C2H2
|
938 |
961 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
999 |
1021 |
6.88e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182478
AA Change: R202G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: R202G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
253 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
615 |
635 |
7.18e1 |
SMART |
|
ZnF_C2H2
|
643 |
667 |
1.23e1 |
SMART |
|
low complexity region
|
726 |
738 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
751 |
772 |
4.57e0 |
SMART |
|
ZnF_C2H2
|
780 |
802 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
808 |
832 |
1.55e1 |
SMART |
|
ZnF_C2H2
|
839 |
862 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
867 |
890 |
3.78e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182655
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182684
AA Change: R202G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182979
AA Change: R202G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: R202G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
253 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
615 |
635 |
7.18e1 |
SMART |
|
ZnF_C2H2
|
643 |
667 |
1.23e1 |
SMART |
|
low complexity region
|
726 |
738 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
751 |
772 |
4.57e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182852
AA Change: R202G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: R202G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
253 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
580 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
615 |
635 |
7.18e1 |
SMART |
|
ZnF_C2H2
|
643 |
667 |
1.23e1 |
SMART |
|
low complexity region
|
726 |
738 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
751 |
772 |
4.57e0 |
SMART |
|
ZnF_C2H2
|
780 |
802 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
808 |
832 |
1.55e1 |
SMART |
|
ZnF_C2H2
|
839 |
862 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
867 |
890 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
902 |
924 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
933 |
956 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
1022 |
1045 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
1052 |
1075 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
1082 |
1108 |
1.43e-1 |
SMART |
|
low complexity region
|
1128 |
1140 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1177 |
1199 |
1.31e0 |
SMART |
|
ZnF_C2H2
|
1206 |
1229 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
1267 |
1289 |
6.88e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182973
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
| Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
| Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
| Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
| Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
| Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
| Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
probably damaging |
Het |
|
| Other mutations in Zfp532 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02341:Zfp532
|
APN |
18 |
65,757,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Zfp532
|
APN |
18 |
65,757,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Zfp532
|
UTSW |
18 |
65,757,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Zfp532
|
UTSW |
18 |
65,777,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Zfp532
|
UTSW |
18 |
65,818,698 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0095:Zfp532
|
UTSW |
18 |
65,757,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Zfp532
|
UTSW |
18 |
65,816,056 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0239:Zfp532
|
UTSW |
18 |
65,816,056 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0539:Zfp532
|
UTSW |
18 |
65,756,837 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0948:Zfp532
|
UTSW |
18 |
65,756,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Zfp532
|
UTSW |
18 |
65,758,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Zfp532
|
UTSW |
18 |
65,820,335 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1749:Zfp532
|
UTSW |
18 |
65,756,555 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1797:Zfp532
|
UTSW |
18 |
65,758,215 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1934:Zfp532
|
UTSW |
18 |
65,818,682 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1959:Zfp532
|
UTSW |
18 |
65,757,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2153:Zfp532
|
UTSW |
18 |
65,757,998 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2280:Zfp532
|
UTSW |
18 |
65,757,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2281:Zfp532
|
UTSW |
18 |
65,757,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2847:Zfp532
|
UTSW |
18 |
65,789,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2848:Zfp532
|
UTSW |
18 |
65,789,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4483:Zfp532
|
UTSW |
18 |
65,789,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4938:Zfp532
|
UTSW |
18 |
65,756,837 (GRCm39) |
missense |
probably benign |
|
|
R4947:Zfp532
|
UTSW |
18 |
65,758,137 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5714:Zfp532
|
UTSW |
18 |
65,756,606 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5920:Zfp532
|
UTSW |
18 |
65,777,421 (GRCm39) |
missense |
probably benign |
|
|
R6035:Zfp532
|
UTSW |
18 |
65,757,005 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6035:Zfp532
|
UTSW |
18 |
65,757,005 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6092:Zfp532
|
UTSW |
18 |
65,777,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Zfp532
|
UTSW |
18 |
65,757,509 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6180:Zfp532
|
UTSW |
18 |
65,789,542 (GRCm39) |
missense |
probably benign |
|
|
R6889:Zfp532
|
UTSW |
18 |
65,820,061 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7039:Zfp532
|
UTSW |
18 |
65,771,834 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7095:Zfp532
|
UTSW |
18 |
65,815,969 (GRCm39) |
missense |
probably benign |
|
|
R7313:Zfp532
|
UTSW |
18 |
65,756,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Zfp532
|
UTSW |
18 |
65,771,984 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7882:Zfp532
|
UTSW |
18 |
65,756,561 (GRCm39) |
missense |
probably benign |
|
|
R8026:Zfp532
|
UTSW |
18 |
65,758,227 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8444:Zfp532
|
UTSW |
18 |
65,757,330 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8477:Zfp532
|
UTSW |
18 |
65,757,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Zfp532
|
UTSW |
18 |
65,758,227 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8890:Zfp532
|
UTSW |
18 |
65,757,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Zfp532
|
UTSW |
18 |
65,820,390 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9334:Zfp532
|
UTSW |
18 |
65,756,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9421:Zfp532
|
UTSW |
18 |
65,757,308 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9439:Zfp532
|
UTSW |
18 |
65,818,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9472:Zfp532
|
UTSW |
18 |
65,756,624 (GRCm39) |
nonsense |
probably null |
|
|
R9477:Zfp532
|
UTSW |
18 |
65,777,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9616:Zfp532
|
UTSW |
18 |
65,789,639 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9653:Zfp532
|
UTSW |
18 |
65,756,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9739:Zfp532
|
UTSW |
18 |
65,757,894 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2015-04-16 |
Incidental Mutation