Incidental Mutation 'R1447:Zfp532'
ID |
160738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp532
|
Ensembl Gene |
ENSMUSG00000042439 |
Gene Name |
zinc finger protein 532 |
Synonyms |
C530030I18Rik |
MMRRC Submission |
039502-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.300)
|
Stock # |
R1447 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65758061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 665
(R665S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182140]
[ENSMUST00000182319]
[ENSMUST00000182478]
[ENSMUST00000182655]
[ENSMUST00000182684]
[ENSMUST00000182979]
[ENSMUST00000182852]
[ENSMUST00000182973]
[ENSMUST00000183236]
[ENSMUST00000183326]
[ENSMUST00000183319]
|
AlphaFold |
Q6NXK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049016
AA Change: R665S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036582 Gene: ENSMUSG00000042439 AA Change: R665S
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: R665S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129390 Gene: ENSMUSG00000042439 AA Change: R665S
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: R665S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138315 Gene: ENSMUSG00000042439 AA Change: R665S
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: ENSMUST00000182979
AA Change: R665S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138225 Gene: ENSMUSG00000042439 AA Change: R665S
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: R665S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138663 Gene: ENSMUSG00000042439 AA Change: R665S
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: ENSMUST00000183157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182973
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183236
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183326
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183319
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 84.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
T |
15: 11,263,447 (GRCm39) |
D603V |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,984,446 (GRCm39) |
E1910V |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Amotl1 |
A |
G |
9: 14,467,038 (GRCm39) |
V704A |
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,509,691 (GRCm39) |
V892E |
probably damaging |
Het |
Aoc1 |
G |
A |
6: 48,883,176 (GRCm39) |
V351I |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,734,924 (GRCm39) |
V412A |
possibly damaging |
Het |
Atp8b2 |
A |
T |
3: 89,851,477 (GRCm39) |
I906N |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,019,735 (GRCm39) |
L2048P |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,211,457 (GRCm39) |
V304A |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,969,854 (GRCm39) |
D1176G |
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,952,735 (GRCm39) |
G66R |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,456,243 (GRCm39) |
E360G |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 15,975,306 (GRCm39) |
G2968* |
probably null |
Het |
Cyp2j7 |
A |
T |
4: 96,083,530 (GRCm39) |
F473L |
possibly damaging |
Het |
Ddx24 |
T |
C |
12: 103,390,566 (GRCm39) |
K142E |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 31,028,855 (GRCm39) |
M625K |
probably benign |
Het |
Dnah9 |
A |
T |
11: 65,999,308 (GRCm39) |
Y944N |
possibly damaging |
Het |
Eef1akmt1 |
T |
A |
14: 57,803,441 (GRCm39) |
K38* |
probably null |
Het |
Enpp2 |
C |
T |
15: 54,782,994 (GRCm39) |
|
probably null |
Het |
Eps8l1 |
A |
G |
7: 4,477,055 (GRCm39) |
E508G |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,896,625 (GRCm39) |
D497E |
possibly damaging |
Het |
Fam181b |
C |
T |
7: 92,729,368 (GRCm39) |
A47V |
probably damaging |
Het |
Fubp3 |
T |
C |
2: 31,490,559 (GRCm39) |
V221A |
probably damaging |
Het |
Golga2 |
T |
C |
2: 32,187,788 (GRCm39) |
V191A |
possibly damaging |
Het |
Haus5 |
G |
T |
7: 30,361,216 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
C |
8: 111,249,798 (GRCm39) |
L2247P |
probably damaging |
Het |
Lama5 |
A |
C |
2: 179,827,671 (GRCm39) |
I2197S |
probably damaging |
Het |
Mapre3 |
C |
T |
5: 31,019,151 (GRCm39) |
|
probably benign |
Het |
Mast2 |
C |
A |
4: 116,169,210 (GRCm39) |
M733I |
probably benign |
Het |
Mphosph10 |
A |
T |
7: 64,030,698 (GRCm39) |
F514I |
probably damaging |
Het |
Mterf3 |
A |
G |
13: 67,065,103 (GRCm39) |
L266P |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,192,120 (GRCm39) |
D1114G |
probably benign |
Het |
Or1ak2 |
T |
G |
2: 36,827,788 (GRCm39) |
V219G |
possibly damaging |
Het |
Or1e21 |
A |
G |
11: 73,344,700 (GRCm39) |
F113L |
probably benign |
Het |
Phf24 |
G |
T |
4: 42,938,232 (GRCm39) |
E119* |
probably null |
Het |
Pik3r5 |
G |
A |
11: 68,385,003 (GRCm39) |
R636Q |
probably benign |
Het |
Plaat3 |
G |
A |
19: 7,556,598 (GRCm39) |
R133H |
probably benign |
Het |
Rida |
T |
A |
15: 34,488,757 (GRCm39) |
Q45L |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 51,974,954 (GRCm39) |
T1544A |
possibly damaging |
Het |
Rpl7 |
T |
A |
1: 16,172,821 (GRCm39) |
Y166F |
probably benign |
Het |
Rps6ka5 |
A |
G |
12: 100,544,084 (GRCm39) |
I338T |
probably benign |
Het |
Scn3a |
A |
T |
2: 65,300,324 (GRCm39) |
N1347K |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,854,739 (GRCm39) |
D238G |
probably benign |
Het |
Sh3rf2 |
T |
A |
18: 42,234,736 (GRCm39) |
I173N |
probably benign |
Het |
Smarcc2 |
T |
C |
10: 128,305,660 (GRCm39) |
|
probably null |
Het |
Thoc2l |
T |
C |
5: 104,670,070 (GRCm39) |
S1531P |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 59,904,496 (GRCm39) |
N567D |
probably benign |
Het |
Tmprss13 |
C |
A |
9: 45,239,878 (GRCm39) |
P62Q |
unknown |
Het |
Tmprss7 |
T |
C |
16: 45,501,033 (GRCm39) |
Q256R |
probably benign |
Het |
Tssc4 |
A |
G |
7: 142,623,892 (GRCm39) |
T67A |
probably benign |
Het |
Tssk5 |
G |
A |
15: 76,256,304 (GRCm39) |
Q372* |
probably null |
Het |
Usp47 |
G |
T |
7: 111,673,775 (GRCm39) |
|
probably null |
Het |
Utp15 |
A |
G |
13: 98,389,386 (GRCm39) |
I304T |
possibly damaging |
Het |
Vmn1r35 |
A |
C |
6: 66,655,890 (GRCm39) |
V93G |
probably benign |
Het |
Zfhx3 |
A |
C |
8: 109,675,076 (GRCm39) |
Q2042P |
probably benign |
Het |
Zfp976 |
G |
T |
7: 42,262,023 (GRCm39) |
P605T |
possibly damaging |
Het |
Zfpl1 |
A |
G |
19: 6,132,649 (GRCm39) |
V125A |
possibly 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 |
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'- GCCAAACTCGTGCCAAAGACTGTG -3'
(R):5'- TATGCCAGGCTGGACTTTTGGGAC -3'
Sequencing Primer
(F):5'- CTTTCAACAAGGTGCTGAGC -3'
(R):5'- ACAGTGTGTGTGGCAGCTC -3'
|
Posted On |
2014-03-14 |