Incidental Mutation 'R5920:Zfp532'
| ID |
461544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp532
|
| Ensembl Gene |
ENSMUSG00000042439 |
| Gene Name |
zinc finger protein 532 |
| Synonyms |
C530030I18Rik |
| MMRRC Submission |
044117-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R5920 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65777421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 893
(V893I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049016]
[ENSMUST00000169679]
[ENSMUST00000182478]
[ENSMUST00000182852]
|
| AlphaFold |
Q6NXK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049016
|
| SMART Domains |
Protein: ENSMUSP00000036582
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
|
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
|
| SMART Domains |
Protein: ENSMUSP00000129390
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
|
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
AA Change: V893I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: V893I
| 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: ENSMUST00000182852
AA Change: V893I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: V893I
| 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: ENSMUST00000183303
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
| Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,252,746 (GRCm39) |
E689K |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,722,994 (GRCm39) |
R11W |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
| Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
| Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,317,694 (GRCm39) |
A11S |
unknown |
Het |
| Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,389,005 (GRCm39) |
Y430C |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
| Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
| Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
| Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
| Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
| Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
| Myoc |
C |
T |
1: 162,467,128 (GRCm39) |
A99V |
probably benign |
Het |
| Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
| Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
| Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
| Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
| Sdha |
A |
G |
13: 74,475,044 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
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 |
|
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'- CGGTGGTCTGTGCTAATGAC -3'
(R):5'- ACGTGTTCCTTTGCTGAGC -3'
Sequencing Primer
(F):5'- GACAGTGTTGTTTCTCTAACAGATG -3'
(R):5'- TACCGACTTTCCCTGGAAAAGGTAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation