Incidental Mutation 'R9472:Zfp532'
| ID |
715548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp532
|
| Ensembl Gene |
ENSMUSG00000042439 |
| Gene Name |
zinc finger protein 532 |
| Synonyms |
C530030I18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R9472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 65756624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 186
(K186*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182140]
[ENSMUST00000182319]
[ENSMUST00000182478]
[ENSMUST00000182655]
[ENSMUST00000182684]
[ENSMUST00000182852]
[ENSMUST00000182973]
[ENSMUST00000182979]
[ENSMUST00000183236]
[ENSMUST00000183319]
[ENSMUST00000183326]
|
| AlphaFold |
Q6NXK2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049016
AA Change: K186*
|
| SMART Domains |
Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: K186*
| 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 null
Transcript: ENSMUST00000169679
AA Change: K186*
|
| SMART Domains |
Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: K186*
| 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 null
Transcript: ENSMUST00000182478
AA Change: K186*
|
| SMART Domains |
Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: K186*
| 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 null
Transcript: ENSMUST00000182684
AA Change: K186*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182852
AA Change: K186*
|
| SMART Domains |
Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: K186*
| 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 |
probably benign
Transcript: ENSMUST00000182973
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182979
AA Change: K186*
|
| SMART Domains |
Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: K186*
| 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: ENSMUST00000183236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183326
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 25,127,248 (GRCm39) |
K449N |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,351 (GRCm39) |
V581I |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,841 (GRCm39) |
F1625S |
|
Het |
| Aox3 |
G |
T |
1: 58,215,669 (GRCm39) |
V1034L |
possibly damaging |
Het |
| Baz2a |
T |
G |
10: 127,948,624 (GRCm39) |
S302A |
probably benign |
Het |
| Capn9 |
T |
C |
8: 125,325,534 (GRCm39) |
|
probably null |
Het |
| Ccdc153 |
A |
T |
9: 44,154,923 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Cdh1 |
A |
T |
8: 107,380,248 (GRCm39) |
N168I |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,539,676 (GRCm39) |
|
probably null |
Het |
| Ctsb |
T |
C |
14: 63,379,186 (GRCm39) |
V266A |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,502,043 (GRCm39) |
R144L |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,470,897 (GRCm39) |
A263V |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,201,590 (GRCm39) |
R32G |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,817,285 (GRCm39) |
N4339K |
possibly damaging |
Het |
| Gsn |
T |
G |
2: 35,182,741 (GRCm39) |
M268R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,843 (GRCm39) |
W2659R |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,461,127 (GRCm39) |
V40A |
unknown |
Het |
| Ints2 |
T |
C |
11: 86,133,824 (GRCm39) |
T409A |
|
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,596,197 (GRCm39) |
V787A |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,273 (GRCm39) |
V465A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,733,453 (GRCm39) |
R2288L |
unknown |
Het |
| Megf6 |
G |
A |
4: 154,333,910 (GRCm39) |
G213S |
probably damaging |
Het |
| Mt2 |
T |
A |
8: 94,899,999 (GRCm39) |
C44S |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,159 (GRCm39) |
V690A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,894,495 (GRCm39) |
H6670R |
|
Het |
| Or4c111 |
A |
C |
2: 88,843,517 (GRCm39) |
I297S |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| Pcdhb17 |
C |
A |
18: 37,618,919 (GRCm39) |
N236K |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,308,079 (GRCm39) |
S1119P |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,711 (GRCm39) |
D184G |
probably damaging |
Het |
| Rassf6 |
A |
T |
5: 90,765,572 (GRCm39) |
Y46* |
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,989,096 (GRCm39) |
I405N |
possibly damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,113,119 (GRCm39) |
S468A |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,260,296 (GRCm39) |
K34E |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,898,441 (GRCm39) |
D204G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,970,798 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sgtb |
A |
C |
13: 104,247,681 (GRCm39) |
E28D |
probably benign |
Het |
| Slc38a8 |
T |
A |
8: 120,227,888 (GRCm39) |
K14M |
probably damaging |
Het |
| Spast |
T |
C |
17: 74,681,143 (GRCm39) |
V478A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,719,101 (GRCm39) |
T147A |
probably damaging |
Het |
| Tmem208 |
T |
C |
8: 106,055,027 (GRCm39) |
F79S |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,052 (GRCm39) |
I250V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,261,128 (GRCm39) |
T1628A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,367,962 (GRCm39) |
N343K |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,913,328 (GRCm39) |
Y320* |
probably null |
Het |
| Zbtb10 |
A |
C |
3: 9,343,355 (GRCm39) |
T627P |
probably benign |
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 |
|
IGL02451:Zfp532
|
APN |
18 |
65,756,672 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTTAAGGACCCGGCATTC -3'
(R):5'- TTTTGGAAGATGCGGCAGC -3'
Sequencing Primer
(F):5'- GCATTCAGCCAGTTCAGCC -3'
(R):5'- ATGCCGGAGTCGCTCTTC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation