Incidental Mutation 'IGL02341:Zfp532'
ID |
289109 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp532
|
Ensembl Gene |
ENSMUSG00000042439 |
Gene Name |
zinc finger protein 532 |
Synonyms |
C530030I18Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.300)
|
Stock # |
IGL02341
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65757849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 594
(P594Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182140]
[ENSMUST00000182319]
[ENSMUST00000182478]
[ENSMUST00000182655]
[ENSMUST00000182684]
[ENSMUST00000182852]
[ENSMUST00000182979]
[ENSMUST00000183236]
[ENSMUST00000183326]
[ENSMUST00000183319]
[ENSMUST00000182973]
|
AlphaFold |
Q6NXK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049016
AA Change: P594Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036582 Gene: ENSMUSG00000042439 AA Change: P594Q
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: P594Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129390 Gene: ENSMUSG00000042439 AA Change: P594Q
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: P594Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138315 Gene: ENSMUSG00000042439 AA Change: P594Q
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: P594Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138663 Gene: ENSMUSG00000042439 AA Change: P594Q
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 damaging
Transcript: ENSMUST00000182979
AA Change: P594Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138225 Gene: ENSMUSG00000042439 AA Change: P594Q
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 |
noncoding transcript
Transcript: ENSMUST00000183157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183236
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183326
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183319
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182973
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
C |
T |
15: 96,270,066 (GRCm39) |
S1393L |
probably benign |
Het |
Bahcc1 |
T |
A |
11: 120,163,346 (GRCm39) |
I548N |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,467,290 (GRCm39) |
L405Q |
possibly damaging |
Het |
Cacna1g |
T |
G |
11: 94,352,978 (GRCm39) |
Q349P |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,213,978 (GRCm39) |
T184A |
possibly damaging |
Het |
Ccdc63 |
A |
G |
5: 122,251,261 (GRCm39) |
I383T |
probably benign |
Het |
Ccnk |
A |
G |
12: 108,161,989 (GRCm39) |
E298G |
unknown |
Het |
Ccnt1 |
T |
C |
15: 98,444,664 (GRCm39) |
E223G |
possibly damaging |
Het |
Clcc1 |
T |
A |
3: 108,580,699 (GRCm39) |
L333I |
possibly damaging |
Het |
Cyp2b10 |
G |
A |
7: 25,610,667 (GRCm39) |
R59Q |
probably benign |
Het |
Cyp3a41b |
T |
A |
5: 145,510,461 (GRCm39) |
T138S |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
Dnah8 |
A |
T |
17: 30,966,231 (GRCm39) |
I2474F |
probably damaging |
Het |
Dok1 |
T |
C |
6: 83,010,035 (GRCm39) |
T25A |
probably damaging |
Het |
Ears2 |
G |
A |
7: 121,638,987 (GRCm39) |
A479V |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,571,934 (GRCm39) |
I981F |
possibly damaging |
Het |
Gm8730 |
A |
G |
8: 103,591,775 (GRCm39) |
|
noncoding transcript |
Het |
Gm9962 |
C |
T |
7: 57,037,042 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
T |
8: 107,600,637 (GRCm39) |
Y33F |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,120,159 (GRCm39) |
S607P |
possibly damaging |
Het |
Hlcs |
T |
A |
16: 94,031,969 (GRCm39) |
I612F |
probably damaging |
Het |
Llgl2 |
T |
A |
11: 115,741,946 (GRCm39) |
S663T |
possibly damaging |
Het |
Lrriq1 |
T |
C |
10: 103,060,802 (GRCm39) |
H100R |
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,656 (GRCm39) |
S17G |
possibly damaging |
Het |
Magi2 |
T |
A |
5: 20,671,201 (GRCm39) |
I678N |
probably damaging |
Het |
Megf11 |
G |
A |
9: 64,451,902 (GRCm39) |
G109S |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,356,281 (GRCm39) |
I497K |
probably damaging |
Het |
Mybpc2 |
A |
C |
7: 44,164,354 (GRCm39) |
S404A |
probably benign |
Het |
Mylip |
A |
G |
13: 45,544,752 (GRCm39) |
R59G |
probably damaging |
Het |
Mylk3 |
A |
T |
8: 86,078,601 (GRCm39) |
I501N |
probably damaging |
Het |
Myo19 |
A |
G |
11: 84,778,871 (GRCm39) |
|
probably benign |
Het |
Nat2 |
A |
G |
8: 67,954,370 (GRCm39) |
Y160C |
possibly damaging |
Het |
Nf1 |
C |
T |
11: 79,455,752 (GRCm39) |
A2554V |
probably benign |
Het |
Niban3 |
A |
T |
8: 72,056,443 (GRCm39) |
N381I |
possibly damaging |
Het |
Ninl |
A |
T |
2: 150,786,525 (GRCm39) |
C153* |
probably null |
Het |
Nlrp5 |
C |
T |
7: 23,103,577 (GRCm39) |
R15C |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,639,926 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
A |
11: 59,026,651 (GRCm39) |
R184L |
probably benign |
Het |
Or6c202 |
T |
A |
10: 128,996,302 (GRCm39) |
I184F |
probably benign |
Het |
Or6c6c |
A |
T |
10: 129,541,358 (GRCm39) |
T204S |
probably damaging |
Het |
Or6c8 |
A |
T |
10: 128,915,330 (GRCm39) |
C167* |
probably null |
Het |
Phip |
A |
T |
9: 82,814,936 (GRCm39) |
V262D |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,154,360 (GRCm38) |
S694T |
probably benign |
Het |
Reck |
T |
A |
4: 43,925,160 (GRCm39) |
D466E |
probably damaging |
Het |
Rimbp2 |
G |
T |
5: 128,878,025 (GRCm39) |
Y213* |
probably null |
Het |
Scn2a |
C |
T |
2: 65,518,721 (GRCm39) |
T365M |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,835,314 (GRCm39) |
T120S |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,657 (GRCm39) |
T50S |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,750 (GRCm39) |
R304G |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,695,257 (GRCm39) |
S67P |
probably damaging |
Het |
Tjp1 |
G |
A |
7: 64,962,382 (GRCm39) |
T1185I |
probably damaging |
Het |
Tspan2 |
T |
A |
3: 102,672,529 (GRCm39) |
I178N |
probably damaging |
Het |
Tusc2 |
T |
A |
9: 107,442,109 (GRCm39) |
*103R |
probably null |
Het |
Uggt1 |
A |
T |
1: 36,203,600 (GRCm39) |
*47R |
probably null |
Het |
Unc13c |
T |
A |
9: 73,840,492 (GRCm39) |
I120F |
possibly damaging |
Het |
Vcpip1 |
T |
A |
1: 9,795,175 (GRCm39) |
K1065N |
possibly damaging |
Het |
|
Other mutations in Zfp532 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |