Incidental Mutation 'R2848:Zfp532'
| ID |
476752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp532
|
| Ensembl Gene |
ENSMUSG00000042439 |
| Gene Name |
zinc finger protein 532 |
| Synonyms |
C530030I18Rik |
| MMRRC Submission |
040441-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
R2848 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
65713301-65822514 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65789697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1045
(H1045Q)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138315
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
|
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 |
possibly damaging
Transcript: ENSMUST00000182852
AA Change: H1045Q
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: H1045Q
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
A |
T |
7: 126,429,894 (GRCm39) |
F101Y |
possibly damaging |
Het |
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Adamts14 |
T |
A |
10: 61,054,214 (GRCm39) |
Q606L |
probably damaging |
Het |
| Adgrf5 |
C |
A |
17: 43,733,531 (GRCm39) |
N118K |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,755,010 (GRCm39) |
Y1073N |
possibly damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,183,387 (GRCm39) |
D31V |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,328,342 (GRCm39) |
L81P |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,051 (GRCm39) |
L209Q |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,746,067 (GRCm39) |
A1684V |
probably damaging |
Het |
| Cyp4f37 |
T |
A |
17: 32,848,099 (GRCm39) |
C206S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,567,161 (GRCm39) |
V2355A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,106,314 (GRCm39) |
K1756E |
probably benign |
Het |
| Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,666,945 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,579,829 (GRCm39) |
F145L |
possibly damaging |
Het |
| Htr4 |
T |
C |
18: 62,561,197 (GRCm39) |
S153P |
probably damaging |
Het |
| Igkv9-120 |
T |
A |
6: 68,027,128 (GRCm39) |
|
probably benign |
Het |
| Il12rb1 |
G |
A |
8: 71,268,446 (GRCm39) |
W396* |
probably null |
Het |
| Itga8 |
A |
T |
2: 12,165,215 (GRCm39) |
V798D |
probably damaging |
Het |
| Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mgam |
C |
A |
6: 40,629,649 (GRCm39) |
A86E |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,139,459 (GRCm39) |
N592S |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,573,323 (GRCm39) |
C816R |
probably damaging |
Het |
| Nek8 |
A |
G |
11: 78,058,967 (GRCm39) |
S513P |
probably damaging |
Het |
| Ociad1 |
A |
G |
5: 73,451,694 (GRCm39) |
|
probably null |
Het |
| Or1j4 |
A |
G |
2: 36,740,811 (GRCm39) |
Y251C |
probably damaging |
Het |
| Or2t35 |
C |
T |
14: 14,407,398 (GRCm38) |
P57S |
probably damaging |
Het |
| Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pcdh7 |
G |
A |
5: 57,877,618 (GRCm39) |
G391E |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,912 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
| Ppargc1a |
A |
G |
5: 51,631,151 (GRCm39) |
F493L |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
| Shfl |
A |
T |
9: 20,784,868 (GRCm39) |
H225L |
probably damaging |
Het |
| Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Try5 |
C |
T |
6: 41,290,410 (GRCm39) |
V25I |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,749,551 (GRCm39) |
Q3833K |
probably benign |
Het |
| Usp53 |
G |
A |
3: 122,728,140 (GRCm39) |
P814L |
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,810,759 (GRCm39) |
N81K |
probably benign |
Het |
| Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,509,948 (GRCm39) |
M844K |
probably benign |
Het |
| Vwa8 |
G |
T |
14: 79,184,582 (GRCm39) |
R360L |
probably benign |
Het |
| Xlr4b |
A |
T |
X: 72,258,938 (GRCm39) |
Q25L |
probably null |
Het |
| Zfp985 |
G |
A |
4: 147,667,468 (GRCm39) |
W112* |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-05-15 |
Incidental Mutation