Incidental Mutation 'R9439:Zfp532'
| ID |
713467 |
| 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: 0.270)
|
| Stock # |
R9439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65818714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 857
(V857I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182478]
[ENSMUST00000182852]
|
| AlphaFold |
Q6NXK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049016
AA Change: V857I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: V857I
| 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: V857I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: V857I
| 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: ENSMUST00000182478
|
| SMART Domains |
Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
| 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 |
possibly damaging
Transcript: ENSMUST00000182852
AA Change: V1125I
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: V1125I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,048 (GRCm39) |
E412D |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,933,274 (GRCm39) |
V415D |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,185 (GRCm39) |
D297A |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,084,687 (GRCm39) |
I4T |
possibly damaging |
Het |
| Atp8b2 |
T |
A |
3: 89,851,492 (GRCm39) |
Y925F |
|
Het |
| Avpr1b |
T |
C |
1: 131,528,029 (GRCm39) |
L184P |
probably damaging |
Het |
| Cabin1 |
G |
A |
10: 75,581,069 (GRCm39) |
P419L |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,884,597 (GRCm39) |
S1578G |
probably benign |
Het |
| Ccnd2 |
A |
T |
6: 127,127,617 (GRCm39) |
C40* |
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,744,155 (GRCm39) |
I471N |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,046,671 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
C |
T |
11: 46,091,668 (GRCm39) |
R1084Q |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,412 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,012,330 (GRCm39) |
N3713S |
possibly damaging |
Het |
| Dot1l |
G |
T |
10: 80,621,438 (GRCm39) |
R633L |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,715,030 (GRCm39) |
M809K |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,803,436 (GRCm39) |
A1680E |
possibly damaging |
Het |
| Flt1 |
A |
G |
5: 147,515,207 (GRCm39) |
F1072L |
probably damaging |
Het |
| Gm19410 |
G |
T |
8: 36,248,810 (GRCm39) |
A549S |
probably damaging |
Het |
| Gm57859 |
C |
T |
11: 113,583,229 (GRCm39) |
Q519* |
probably null |
Het |
| Gnat1 |
A |
T |
9: 107,553,511 (GRCm39) |
I249N |
|
Het |
| Gp2 |
T |
C |
7: 119,053,433 (GRCm39) |
Y176C |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,277,248 (GRCm39) |
Q60K |
probably benign |
Het |
| Gpsm2 |
T |
A |
3: 108,610,397 (GRCm39) |
E21V |
probably damaging |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,793 (GRCm39) |
M33L |
probably benign |
Het |
| Il20ra |
C |
A |
10: 19,618,751 (GRCm39) |
H66Q |
probably benign |
Het |
| Kap |
C |
T |
6: 133,828,950 (GRCm39) |
D61N |
probably benign |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,461,692 (GRCm39) |
Y60* |
probably null |
Het |
| Neil1 |
T |
A |
9: 57,051,098 (GRCm39) |
R294* |
probably null |
Het |
| Nkx6-3 |
A |
G |
8: 23,643,778 (GRCm39) |
S60G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,326,130 (GRCm39) |
S406T |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,247 (GRCm39) |
V298A |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,825 (GRCm39) |
I163T |
probably benign |
Het |
| Or2h2c |
A |
G |
17: 37,422,205 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,104 (GRCm39) |
C145R |
probably benign |
Het |
| Or51ac3 |
T |
G |
7: 103,214,049 (GRCm39) |
I146L |
probably benign |
Het |
| Or5p81 |
T |
C |
7: 108,266,626 (GRCm39) |
M1T |
probably null |
Het |
| Paqr4 |
A |
G |
17: 23,958,939 (GRCm39) |
F21L |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,527 (GRCm39) |
T199A |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,884,917 (GRCm39) |
L29P |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,831,172 (GRCm39) |
A323V |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,528,041 (GRCm39) |
P465T |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,274,189 (GRCm39) |
S307P |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,659 (GRCm39) |
Y191H |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,023,036 (GRCm39) |
V613I |
probably benign |
Het |
| Prr23a2 |
C |
T |
9: 98,738,921 (GRCm39) |
T93I |
probably damaging |
Het |
| Ptk6 |
T |
A |
2: 180,840,206 (GRCm39) |
M267L |
possibly damaging |
Het |
| Rabl6 |
C |
T |
2: 25,492,432 (GRCm39) |
|
probably null |
Het |
| Ralgapa2 |
T |
C |
2: 146,254,058 (GRCm39) |
H787R |
probably benign |
Het |
| Rfx8 |
T |
G |
1: 39,724,669 (GRCm39) |
M231L |
probably benign |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Smpd4 |
A |
G |
16: 17,459,451 (GRCm39) |
I625V |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,765,740 (GRCm39) |
S66P |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,743,899 (GRCm39) |
V1007M |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,665,535 (GRCm39) |
R758C |
probably damaging |
Het |
| Vmn1r210 |
A |
C |
13: 23,011,397 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,538 (GRCm39) |
T593A |
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 |
|
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'- GGGAGTCATAGCACTGCTTG -3'
(R):5'- GGGCTACAAGGGATTACTGTAGTAC -3'
Sequencing Primer
(F):5'- AGCTCTGCCTCCCTGAG -3'
(R):5'- ACTGTAGTACTTGACAAGATCTGAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation