Incidental Mutation 'E0370:Wiz'
ID |
206421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wiz
|
Ensembl Gene |
ENSMUSG00000024050 |
Gene Name |
widely-interspaced zinc finger motifs |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
E0370 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32574092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 935
(R935Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050214]
[ENSMUST00000064694]
[ENSMUST00000087703]
[ENSMUST00000163107]
[ENSMUST00000169488]
[ENSMUST00000170617]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050214
|
SMART Domains |
Protein: ENSMUSP00000051389 Gene: ENSMUSG00000002625
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
62 |
N/A |
INTRINSIC |
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
low complexity region
|
112 |
120 |
N/A |
INTRINSIC |
low complexity region
|
236 |
257 |
N/A |
INTRINSIC |
low complexity region
|
296 |
306 |
N/A |
INTRINSIC |
low complexity region
|
307 |
324 |
N/A |
INTRINSIC |
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
coiled coil region
|
356 |
383 |
N/A |
INTRINSIC |
ZnF_C2H2
|
389 |
413 |
1.05e1 |
SMART |
SCOP:d1jvr__
|
538 |
613 |
7e-5 |
SMART |
low complexity region
|
628 |
640 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064694
AA Change: R926Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069443 Gene: ENSMUSG00000024050 AA Change: R926Q
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
ZnF_C2H2
|
74 |
96 |
8.67e-1 |
SMART |
ZnF_C2H2
|
175 |
197 |
4.72e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
1.67e-2 |
SMART |
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
low complexity region
|
439 |
458 |
N/A |
INTRINSIC |
ZnF_C2H2
|
532 |
554 |
1.67e-2 |
SMART |
low complexity region
|
576 |
588 |
N/A |
INTRINSIC |
low complexity region
|
607 |
623 |
N/A |
INTRINSIC |
ZnF_C2H2
|
702 |
724 |
1.41e0 |
SMART |
low complexity region
|
784 |
793 |
N/A |
INTRINSIC |
low complexity region
|
869 |
887 |
N/A |
INTRINSIC |
ZnF_C2H2
|
901 |
927 |
1.06e2 |
SMART |
low complexity region
|
936 |
956 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087703
AA Change: R925Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000084993 Gene: ENSMUSG00000024050 AA Change: R925Q
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
ZnF_C2H2
|
74 |
96 |
8.67e-1 |
SMART |
ZnF_C2H2
|
175 |
197 |
4.72e-2 |
SMART |
ZnF_C2H2
|
348 |
370 |
1.67e-2 |
SMART |
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
low complexity region
|
439 |
458 |
N/A |
INTRINSIC |
ZnF_C2H2
|
531 |
553 |
1.67e-2 |
SMART |
low complexity region
|
575 |
587 |
N/A |
INTRINSIC |
low complexity region
|
606 |
622 |
N/A |
INTRINSIC |
ZnF_C2H2
|
701 |
723 |
1.41e0 |
SMART |
low complexity region
|
783 |
792 |
N/A |
INTRINSIC |
low complexity region
|
868 |
886 |
N/A |
INTRINSIC |
ZnF_C2H2
|
900 |
926 |
1.06e2 |
SMART |
low complexity region
|
935 |
955 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163107
|
SMART Domains |
Protein: ENSMUSP00000127943 Gene: ENSMUSG00000024050
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169488
AA Change: R935Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126253 Gene: ENSMUSG00000024050 AA Change: R935Q
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
ZnF_C2H2
|
54 |
76 |
4.72e-2 |
SMART |
ZnF_C2H2
|
227 |
249 |
3.52e-1 |
SMART |
low complexity region
|
294 |
318 |
N/A |
INTRINSIC |
ZnF_C2H2
|
357 |
379 |
1.67e-2 |
SMART |
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
low complexity region
|
448 |
467 |
N/A |
INTRINSIC |
ZnF_C2H2
|
541 |
563 |
1.67e-2 |
SMART |
low complexity region
|
585 |
597 |
N/A |
INTRINSIC |
low complexity region
|
616 |
632 |
N/A |
INTRINSIC |
ZnF_C2H2
|
711 |
733 |
1.41e0 |
SMART |
low complexity region
|
793 |
802 |
N/A |
INTRINSIC |
low complexity region
|
878 |
896 |
N/A |
INTRINSIC |
ZnF_C2H2
|
910 |
936 |
1.06e2 |
SMART |
low complexity region
|
945 |
965 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170617
|
SMART Domains |
Protein: ENSMUSP00000130517 Gene: ENSMUSG00000024050
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0907 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
TGCAGCGACTGGACGGCGGCA |
TGCA |
11: 70,507,252 (GRCm39) |
|
probably null |
Het |
Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
Epb41l3 |
A |
G |
17: 69,581,799 (GRCm39) |
N580S |
possibly damaging |
Het |
Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
Prdm11 |
T |
C |
2: 92,810,924 (GRCm39) |
Y225C |
probably damaging |
Het |
Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
Steap1 |
T |
C |
5: 5,790,673 (GRCm39) |
R92G |
probably damaging |
Het |
Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
Trip13 |
A |
G |
13: 74,068,558 (GRCm39) |
|
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r121 |
A |
G |
X: 123,037,617 (GRCm39) |
V801A |
probably benign |
Het |
|
Other mutations in Wiz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02145:Wiz
|
APN |
17 |
32,575,893 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02176:Wiz
|
APN |
17 |
32,575,876 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02212:Wiz
|
APN |
17 |
32,587,109 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02213:Wiz
|
APN |
17 |
32,586,834 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02616:Wiz
|
APN |
17 |
32,578,443 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02654:Wiz
|
APN |
17 |
32,578,324 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02833:Wiz
|
APN |
17 |
32,576,853 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03032:Wiz
|
APN |
17 |
32,575,532 (GRCm39) |
missense |
probably benign |
|
IGL03138:Wiz
|
UTSW |
17 |
32,578,093 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4494001:Wiz
|
UTSW |
17 |
32,580,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R0197:Wiz
|
UTSW |
17 |
32,575,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R0207:Wiz
|
UTSW |
17 |
32,576,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R0701:Wiz
|
UTSW |
17 |
32,575,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Wiz
|
UTSW |
17 |
32,575,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R1055:Wiz
|
UTSW |
17 |
32,606,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R1968:Wiz
|
UTSW |
17 |
32,578,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R2225:Wiz
|
UTSW |
17 |
32,575,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R2423:Wiz
|
UTSW |
17 |
32,580,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R2860:Wiz
|
UTSW |
17 |
32,580,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R2861:Wiz
|
UTSW |
17 |
32,580,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R3056:Wiz
|
UTSW |
17 |
32,576,671 (GRCm39) |
missense |
probably benign |
0.01 |
R3755:Wiz
|
UTSW |
17 |
32,578,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R3885:Wiz
|
UTSW |
17 |
32,576,012 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3933:Wiz
|
UTSW |
17 |
32,576,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R4038:Wiz
|
UTSW |
17 |
32,578,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:Wiz
|
UTSW |
17 |
32,588,331 (GRCm39) |
utr 3 prime |
probably benign |
|
R4181:Wiz
|
UTSW |
17 |
32,586,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4651:Wiz
|
UTSW |
17 |
32,576,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Wiz
|
UTSW |
17 |
32,575,411 (GRCm39) |
nonsense |
probably null |
|
R4891:Wiz
|
UTSW |
17 |
32,576,602 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4923:Wiz
|
UTSW |
17 |
32,580,570 (GRCm39) |
missense |
probably benign |
0.01 |
R5014:Wiz
|
UTSW |
17 |
32,578,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R5194:Wiz
|
UTSW |
17 |
32,596,822 (GRCm39) |
utr 3 prime |
probably benign |
|
R5254:Wiz
|
UTSW |
17 |
32,597,470 (GRCm39) |
splice site |
probably benign |
|
R5944:Wiz
|
UTSW |
17 |
32,576,671 (GRCm39) |
missense |
probably benign |
0.01 |
R6015:Wiz
|
UTSW |
17 |
32,606,574 (GRCm39) |
missense |
probably damaging |
0.99 |
R6263:Wiz
|
UTSW |
17 |
32,579,417 (GRCm39) |
splice site |
probably null |
|
R6571:Wiz
|
UTSW |
17 |
32,578,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R6823:Wiz
|
UTSW |
17 |
32,579,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R7014:Wiz
|
UTSW |
17 |
32,580,840 (GRCm39) |
missense |
probably damaging |
0.98 |
R7051:Wiz
|
UTSW |
17 |
32,580,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Wiz
|
UTSW |
17 |
32,576,602 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7221:Wiz
|
UTSW |
17 |
32,578,139 (GRCm39) |
missense |
probably benign |
0.03 |
R7260:Wiz
|
UTSW |
17 |
32,578,085 (GRCm39) |
missense |
probably damaging |
0.99 |
R7453:Wiz
|
UTSW |
17 |
32,598,049 (GRCm39) |
missense |
probably benign |
0.00 |
R7849:Wiz
|
UTSW |
17 |
32,576,760 (GRCm39) |
missense |
probably benign |
0.26 |
R8686:Wiz
|
UTSW |
17 |
32,586,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R9150:Wiz
|
UTSW |
17 |
32,586,809 (GRCm39) |
missense |
probably benign |
0.31 |
R9298:Wiz
|
UTSW |
17 |
32,580,714 (GRCm39) |
missense |
probably benign |
|
R9564:Wiz
|
UTSW |
17 |
32,575,939 (GRCm39) |
missense |
probably benign |
0.00 |
R9565:Wiz
|
UTSW |
17 |
32,575,939 (GRCm39) |
missense |
probably benign |
0.00 |
U24488:Wiz
|
UTSW |
17 |
32,606,649 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Wiz
|
UTSW |
17 |
32,606,732 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
Z1176:Wiz
|
UTSW |
17 |
32,580,469 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Wiz
|
UTSW |
17 |
32,576,752 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTTGCTCCTTTGGAAACG -3'
(R):5'- CTGTCCGTTGGAAGACACTTC -3'
Sequencing Primer
(F):5'- CTTGCTCCTTTGGAAACGGAAAAG -3'
(R):5'- GAGTTCTTGTCTTAACATCCATACTG -3'
|
Posted On |
2014-06-23 |