Incidental Mutation 'R0948:Zfp532'
ID |
81736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp532
|
Ensembl Gene |
ENSMUSG00000042439 |
Gene Name |
zinc finger protein 532 |
Synonyms |
C530030I18Rik |
MMRRC Submission |
039087-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.300)
|
Stock # |
R0948 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65756889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 274
(A274E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182140]
[ENSMUST00000182319]
[ENSMUST00000182478]
[ENSMUST00000182655]
[ENSMUST00000182979]
[ENSMUST00000182852]
[ENSMUST00000183319]
[ENSMUST00000182973]
[ENSMUST00000182684]
[ENSMUST00000183326]
[ENSMUST00000183236]
|
AlphaFold |
Q6NXK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049016
AA Change: A274E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036582 Gene: ENSMUSG00000042439 AA Change: A274E
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: A274E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129390 Gene: ENSMUSG00000042439 AA Change: A274E
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: A274E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138315 Gene: ENSMUSG00000042439 AA Change: A274E
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: ENSMUST00000182979
AA Change: A274E
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138225 Gene: ENSMUSG00000042439 AA Change: A274E
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 damaging
Transcript: ENSMUST00000182852
AA Change: A274E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138663 Gene: ENSMUSG00000042439 AA Change: A274E
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: ENSMUST00000183319
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182973
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182684
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183326
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183236
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
C |
T |
19: 8,867,390 (GRCm39) |
T63M |
probably damaging |
Het |
Abcb1a |
T |
A |
5: 8,790,621 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
C |
13: 74,361,888 (GRCm39) |
D537G |
probably damaging |
Het |
Anxa4 |
T |
A |
6: 86,718,913 (GRCm39) |
I269F |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,953,278 (GRCm39) |
Y401C |
probably damaging |
Het |
Atm |
A |
T |
9: 53,407,258 (GRCm39) |
M1160K |
probably benign |
Het |
Ccdc175 |
A |
G |
12: 72,177,897 (GRCm39) |
Y434H |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,335,882 (GRCm39) |
A855T |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,010,213 (GRCm39) |
D246G |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,694,847 (GRCm39) |
L840P |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,712,829 (GRCm39) |
D2009E |
probably damaging |
Het |
E2f3 |
C |
T |
13: 30,169,516 (GRCm39) |
A46T |
probably damaging |
Het |
Ect2l |
A |
T |
10: 18,016,334 (GRCm39) |
C635S |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,924 (GRCm39) |
D439G |
probably benign |
Het |
Hao1 |
A |
C |
2: 134,372,693 (GRCm39) |
M105R |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,238,525 (GRCm39) |
I552T |
probably damaging |
Het |
Il31ra |
A |
G |
13: 112,666,912 (GRCm39) |
S470P |
possibly damaging |
Het |
Mfsd1 |
A |
G |
3: 67,504,067 (GRCm39) |
N353S |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,772,140 (GRCm39) |
F1667I |
possibly damaging |
Het |
Niban2 |
A |
G |
2: 32,812,872 (GRCm39) |
Y480C |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,964,655 (GRCm39) |
V1413A |
probably damaging |
Het |
Or8b1 |
T |
G |
9: 38,400,244 (GRCm39) |
S306R |
probably benign |
Het |
Or8b50 |
G |
A |
9: 38,517,787 (GRCm39) |
V9I |
possibly damaging |
Het |
Osbpl10 |
T |
A |
9: 114,996,187 (GRCm39) |
V119E |
probably damaging |
Het |
Plec |
C |
A |
15: 76,089,887 (GRCm39) |
R151L |
probably benign |
Het |
Ptpn12 |
T |
C |
5: 21,203,041 (GRCm39) |
H579R |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,362 (GRCm39) |
G29C |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,857,423 (GRCm39) |
S391* |
probably null |
Het |
Sobp |
A |
T |
10: 42,898,205 (GRCm39) |
I460N |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,436,766 (GRCm39) |
D75E |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,571,638 (GRCm39) |
C26* |
probably null |
Het |
Tacstd2 |
T |
A |
6: 67,512,102 (GRCm39) |
I197L |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,610,416 (GRCm39) |
T295A |
possibly damaging |
Het |
Txnl1 |
G |
T |
18: 63,825,191 (GRCm39) |
S18R |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,343,550 (GRCm39) |
|
probably benign |
Het |
Ube2frt |
A |
T |
12: 36,140,934 (GRCm39) |
|
probably benign |
Het |
Vwce |
A |
G |
19: 10,630,441 (GRCm39) |
Y500C |
probably damaging |
Het |
Wdr49 |
A |
C |
3: 75,358,158 (GRCm39) |
S196A |
probably benign |
Het |
Wfs1 |
T |
C |
5: 37,124,905 (GRCm39) |
Y662C |
probably damaging |
Het |
Wnt8b |
A |
C |
19: 44,498,968 (GRCm39) |
D133A |
possibly damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp74 |
A |
G |
7: 29,635,362 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGTCTCTACATCAGGCCACAC -3'
(R):5'- TTGCTGCTGTTCTCACTGGATACG -3'
Sequencing Primer
(F):5'- GAAAGCAATTCTATAACCCTGAGTG -3'
(R):5'- TCACTGGATACGCTCCTGG -3'
|
Posted On |
2013-11-08 |