Incidental Mutation 'R8477:Zfp532'
ID |
657338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp532
|
Ensembl Gene |
ENSMUSG00000042439 |
Gene Name |
zinc finger protein 532 |
Synonyms |
C530030I18Rik |
MMRRC Submission |
067921-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.300)
|
Stock # |
R8477 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65757137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 357
(I357F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138225
(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: I357F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036582 Gene: ENSMUSG00000042439 AA Change: I357F
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: I357F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129390 Gene: ENSMUSG00000042439 AA Change: I357F
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: I357F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138315 Gene: ENSMUSG00000042439 AA Change: I357F
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 |
probably damaging
Transcript: ENSMUST00000182852
AA Change: I357F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138663 Gene: ENSMUSG00000042439 AA Change: I357F
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: I357F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138225 Gene: ENSMUSG00000042439 AA Change: I357F
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
|
Meta Mutation Damage Score |
0.4402 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
G |
A |
10: 78,924,174 (GRCm39) |
S94L |
probably benign |
Het |
Ackr1 |
C |
T |
1: 173,159,755 (GRCm39) |
G255R |
probably damaging |
Het |
Aldh1l2 |
G |
A |
10: 83,337,785 (GRCm39) |
T560I |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,020,266 (GRCm39) |
F384I |
probably damaging |
Het |
Bptf |
T |
A |
11: 106,943,679 (GRCm39) |
Q2671L |
probably damaging |
Het |
Ccdc159 |
A |
G |
9: 21,844,223 (GRCm39) |
E95G |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,385,385 (GRCm39) |
H2298Q |
probably benign |
Het |
Chn2 |
G |
T |
6: 54,246,467 (GRCm39) |
|
probably null |
Het |
Csnk1g1 |
T |
C |
9: 65,909,555 (GRCm39) |
L224P |
probably damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,058,708 (GRCm39) |
K241N |
probably benign |
Het |
Cyp2c55 |
G |
T |
19: 38,999,485 (GRCm39) |
V64L |
probably damaging |
Het |
Dlgap1 |
A |
C |
17: 70,823,967 (GRCm39) |
Q317H |
probably damaging |
Het |
Dnaja3 |
A |
G |
16: 4,505,212 (GRCm39) |
D108G |
probably null |
Het |
Dpagt1 |
G |
T |
9: 44,243,390 (GRCm39) |
|
probably null |
Het |
Dzip1 |
T |
C |
14: 119,138,958 (GRCm39) |
R424G |
possibly damaging |
Het |
Ero1b |
A |
G |
13: 12,616,672 (GRCm39) |
K367R |
probably benign |
Het |
Evi2 |
T |
C |
11: 79,406,891 (GRCm39) |
Y228C |
probably benign |
Het |
Exosc10 |
A |
T |
4: 148,649,847 (GRCm39) |
I426L |
possibly damaging |
Het |
Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
Gm19965 |
A |
C |
1: 116,730,854 (GRCm39) |
|
probably benign |
Het |
Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
Gvin2 |
T |
C |
7: 105,548,133 (GRCm39) |
K1640E |
possibly damaging |
Het |
Hc |
A |
T |
2: 34,879,182 (GRCm39) |
C1557S |
probably damaging |
Het |
Hfm1 |
C |
T |
5: 107,029,684 (GRCm39) |
S799N |
probably benign |
Het |
Hibadh |
A |
T |
6: 52,617,185 (GRCm39) |
W17R |
probably benign |
Het |
Hivep1 |
A |
T |
13: 42,337,696 (GRCm39) |
T2592S |
probably benign |
Het |
Ighv8-5 |
G |
A |
12: 115,031,200 (GRCm39) |
T113I |
probably benign |
Het |
Il2rb |
A |
T |
15: 78,370,006 (GRCm39) |
V211D |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,900,105 (GRCm39) |
Y121C |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,992,138 (GRCm39) |
T597A |
possibly damaging |
Het |
Lats1 |
A |
G |
10: 7,581,279 (GRCm39) |
E688G |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,644,539 (GRCm39) |
A589T |
possibly damaging |
Het |
Limch1 |
G |
A |
5: 67,131,908 (GRCm39) |
V133I |
probably benign |
Het |
Mast2 |
C |
T |
4: 116,164,407 (GRCm39) |
A1670T |
probably benign |
Het |
Mtcl1 |
A |
T |
17: 66,684,942 (GRCm39) |
L949Q |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,159,219 (GRCm39) |
V833A |
probably benign |
Het |
Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
Or8g28 |
A |
T |
9: 39,169,099 (GRCm39) |
Y290N |
probably damaging |
Het |
Osgep |
C |
A |
14: 51,155,334 (GRCm39) |
A75S |
probably damaging |
Het |
Pank1 |
C |
A |
19: 34,856,055 (GRCm39) |
R141L |
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,638,307 (GRCm39) |
S278T |
probably benign |
Het |
Pcdhgb8 |
C |
A |
18: 37,896,365 (GRCm39) |
F478L |
probably benign |
Het |
Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Polr2a |
G |
A |
11: 69,626,312 (GRCm39) |
P1613S |
probably benign |
Het |
Pramel55 |
A |
C |
5: 95,949,567 (GRCm39) |
M105L |
probably benign |
Het |
Prom2 |
A |
C |
2: 127,381,124 (GRCm39) |
S251A |
probably benign |
Het |
R3hdm2 |
A |
G |
10: 127,320,029 (GRCm39) |
H546R |
probably damaging |
Het |
Reck |
G |
T |
4: 43,891,011 (GRCm39) |
V50L |
probably benign |
Het |
Rerg |
T |
C |
6: 137,033,184 (GRCm39) |
T164A |
probably benign |
Het |
Rho |
T |
A |
6: 115,912,346 (GRCm39) |
|
probably null |
Het |
Ric1 |
A |
G |
19: 29,575,183 (GRCm39) |
T959A |
probably damaging |
Het |
Slc28a3 |
T |
A |
13: 58,724,609 (GRCm39) |
N215I |
possibly damaging |
Het |
Slc2a5 |
G |
A |
4: 150,210,119 (GRCm39) |
V35I |
probably benign |
Het |
Srpk2 |
A |
T |
5: 23,718,986 (GRCm39) |
S610T |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,625,079 (GRCm39) |
F1624L |
probably benign |
Het |
Tmem147 |
T |
A |
7: 30,427,656 (GRCm39) |
M86L |
probably benign |
Het |
Trhde |
A |
G |
10: 114,636,622 (GRCm39) |
V195A |
probably benign |
Het |
Trio |
T |
C |
15: 27,774,038 (GRCm39) |
S112G |
possibly damaging |
Het |
U2af2 |
T |
C |
7: 5,078,693 (GRCm39) |
V424A |
probably benign |
Het |
Vmn2r27 |
T |
C |
6: 124,201,200 (GRCm39) |
I252M |
probably benign |
Het |
Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
Zfp37 |
A |
G |
4: 62,110,240 (GRCm39) |
C275R |
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 |
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'- CCGTTACCAAAAGAAGTGAATGAC -3'
(R):5'- CACTTGTAACCATGGCCGTC -3'
Sequencing Primer
(F):5'- GTGAATGACAGTCCCAAAGCTGC -3'
(R):5'- TAACCATGGCCGTCTGCAGAG -3'
|
Posted On |
2021-01-18 |