Incidental Mutation 'R8890:Zfp532'
ID |
677658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp532
|
Ensembl Gene |
ENSMUSG00000042439 |
Gene Name |
zinc finger protein 532 |
Synonyms |
C530030I18Rik |
MMRRC Submission |
068694-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.300)
|
Stock # |
R8890 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 65757404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 446
(P446S)
|
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 damaging
Transcript: ENSMUST00000049016
AA Change: P446S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036582 Gene: ENSMUSG00000042439 AA Change: P446S
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 damaging
Transcript: ENSMUST00000169679
AA Change: P446S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129390 Gene: ENSMUSG00000042439 AA Change: P446S
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 damaging
Transcript: ENSMUST00000182478
AA Change: P446S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138315 Gene: ENSMUSG00000042439 AA Change: P446S
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 benign
Transcript: ENSMUST00000182684
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182852
AA Change: P446S
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138663 Gene: ENSMUSG00000042439 AA Change: P446S
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 damaging
Transcript: ENSMUST00000182979
AA Change: P446S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138225 Gene: ENSMUSG00000042439 AA Change: P446S
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: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
G |
A |
X: 69,437,994 (GRCm39) |
R100W |
possibly damaging |
Het |
Acrv1 |
A |
T |
9: 36,604,608 (GRCm39) |
M1L |
probably benign |
Het |
Adam23 |
G |
A |
1: 63,624,524 (GRCm39) |
G784D |
possibly damaging |
Het |
Astl |
A |
T |
2: 127,198,479 (GRCm39) |
M365L |
probably benign |
Het |
C1ql3 |
T |
A |
2: 13,015,184 (GRCm39) |
T159S |
|
Het |
Ccser2 |
T |
G |
14: 36,601,352 (GRCm39) |
D344A |
probably damaging |
Het |
Cox11 |
A |
C |
11: 90,534,599 (GRCm39) |
I214L |
probably damaging |
Het |
Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,185,502 (GRCm39) |
Y213F |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,522,555 (GRCm39) |
I340F |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,829,349 (GRCm39) |
F664L |
probably damaging |
Het |
Eif3j2 |
A |
G |
18: 43,610,276 (GRCm39) |
L179P |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,656,902 (GRCm39) |
M84K |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,358,436 (GRCm39) |
V58A |
probably benign |
Het |
Gabra1 |
T |
A |
11: 42,024,553 (GRCm39) |
Y374F |
probably benign |
Het |
Glt28d2 |
A |
T |
3: 85,779,359 (GRCm39) |
V38D |
possibly damaging |
Het |
Grid2 |
A |
T |
6: 63,233,923 (GRCm39) |
H28L |
probably benign |
Het |
Hat1 |
G |
A |
2: 71,269,137 (GRCm39) |
R355K |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,953,657 (GRCm39) |
Y658H |
possibly damaging |
Het |
Hsh2d |
T |
C |
8: 72,951,690 (GRCm39) |
F108S |
probably damaging |
Het |
Il17rc |
G |
T |
6: 113,456,031 (GRCm39) |
C292F |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,660,861 (GRCm39) |
D576G |
possibly damaging |
Het |
Iqsec3 |
T |
C |
6: 121,389,515 (GRCm39) |
D652G |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,366,624 (GRCm39) |
S420R |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,272,888 (GRCm39) |
T599A |
probably benign |
Het |
Lrrc8c |
A |
T |
5: 105,754,954 (GRCm39) |
E243V |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,006,882 (GRCm39) |
S714P |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
Mipep |
G |
T |
14: 61,109,506 (GRCm39) |
A628S |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mterf3 |
C |
T |
13: 67,064,676 (GRCm39) |
|
probably null |
Het |
Myh15 |
C |
A |
16: 48,959,130 (GRCm39) |
L1001I |
probably damaging |
Het |
Myom3 |
G |
A |
4: 135,541,565 (GRCm39) |
M1385I |
probably benign |
Het |
Nbea |
T |
C |
3: 55,926,784 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
C |
T |
7: 30,162,080 (GRCm39) |
R270W |
probably damaging |
Het |
Nwd1 |
T |
A |
8: 73,438,484 (GRCm39) |
S1552T |
probably benign |
Het |
Or10ag60 |
A |
T |
2: 87,438,412 (GRCm39) |
I227F |
probably damaging |
Het |
Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
Or52ae9 |
G |
T |
7: 103,389,675 (GRCm39) |
F257L |
probably damaging |
Het |
Or52r1 |
A |
T |
7: 102,536,699 (GRCm39) |
Y220* |
probably null |
Het |
Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
Pheta2 |
G |
T |
15: 82,227,618 (GRCm39) |
V46F |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,216,330 (GRCm39) |
R1394G |
|
Het |
Pramel28 |
G |
T |
4: 143,691,494 (GRCm39) |
Q410K |
probably benign |
Het |
Psmd1 |
G |
A |
1: 86,012,914 (GRCm39) |
R361Q |
probably damaging |
Het |
Ralb |
G |
A |
1: 119,411,246 (GRCm39) |
T31M |
probably damaging |
Het |
Rassf4 |
T |
A |
6: 116,617,305 (GRCm39) |
K233N |
probably damaging |
Het |
Rif1 |
T |
C |
2: 51,988,875 (GRCm39) |
F756S |
probably damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,382,501 (GRCm39) |
D556N |
possibly damaging |
Het |
Scai |
T |
C |
2: 39,040,400 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
A |
G |
12: 51,474,678 (GRCm39) |
T478A |
probably benign |
Het |
Spag17 |
T |
A |
3: 99,911,994 (GRCm39) |
I288N |
possibly damaging |
Het |
Sult1e1 |
C |
T |
5: 87,727,719 (GRCm39) |
V188I |
probably benign |
Het |
Tmco1 |
A |
G |
1: 167,143,814 (GRCm39) |
R82G |
|
Het |
Tmem109 |
T |
C |
19: 10,849,235 (GRCm39) |
S207G |
probably benign |
Het |
Vmn2r115 |
A |
G |
17: 23,578,497 (GRCm39) |
T657A |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,243,640 (GRCm39) |
T621A |
probably benign |
Het |
Zbtb40 |
A |
G |
4: 136,725,897 (GRCm39) |
L554P |
probably damaging |
Het |
Zfp131 |
A |
T |
13: 120,244,338 (GRCm39) |
M114K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAAGAAGCCTTCTGAGCAG -3'
(R):5'- CAGTCTTTGGCACGAGTTTG -3'
Sequencing Primer
(F):5'- AGGCAGCGTCCGTGATG -3'
(R):5'- ATTGGCCAGGCTGGATGC -3'
|
Posted On |
2021-08-02 |