Incidental Mutation 'R0197:Wiz'
| ID |
60774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wiz
|
| Ensembl Gene |
ENSMUSG00000024050 |
| Gene Name |
widely-interspaced zinc finger motifs |
| Synonyms |
|
| MMRRC Submission |
038456-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0197 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32575415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 907
(I907N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064694]
[ENSMUST00000087703]
[ENSMUST00000163107]
[ENSMUST00000169488]
[ENSMUST00000170617]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064694
AA Change: I898N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: I898N
| 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: I897N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: I897N
| 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: I907N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: I907N
| 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 |
0.2362 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.5%
- 20x: 75.9%
|
| Validation Efficiency |
97% (121/125) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,632 (GRCm39) |
L1607P |
probably damaging |
Het |
| 1700016H13Rik |
T |
C |
5: 103,796,687 (GRCm39) |
*118W |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,815,053 (GRCm39) |
R1147* |
probably null |
Het |
| Acsbg3 |
A |
T |
17: 57,190,835 (GRCm39) |
N468Y |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,927,571 (GRCm39) |
T1131A |
possibly damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,189,416 (GRCm39) |
D388G |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,565,876 (GRCm39) |
A97E |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Baiap2l1 |
C |
A |
5: 144,202,820 (GRCm39) |
V498L |
probably damaging |
Het |
| Bltp2 |
A |
C |
11: 78,160,530 (GRCm39) |
|
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,762,633 (GRCm39) |
N437S |
probably benign |
Het |
| Cert1 |
T |
A |
13: 96,685,795 (GRCm39) |
Y63N |
probably benign |
Het |
| Cfap119 |
T |
C |
7: 127,184,034 (GRCm39) |
E261G |
probably damaging |
Het |
| Cfap20dc |
C |
T |
14: 8,518,695 (GRCm38) |
G254R |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Cstf2t |
A |
T |
19: 31,062,026 (GRCm39) |
M521L |
probably benign |
Het |
| Dlx5 |
T |
C |
6: 6,881,619 (GRCm39) |
K90E |
possibly damaging |
Het |
| Dmp1 |
A |
G |
5: 104,355,496 (GRCm39) |
E32G |
possibly damaging |
Het |
| Espnl |
T |
G |
1: 91,272,211 (GRCm39) |
Y524D |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,741,479 (GRCm39) |
L30P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,931,732 (GRCm39) |
V337D |
probably damaging |
Het |
| Gart |
C |
A |
16: 91,420,291 (GRCm39) |
D851Y |
possibly damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,615 (GRCm39) |
H234R |
probably damaging |
Het |
| Gemin6 |
T |
A |
17: 80,535,524 (GRCm39) |
H161Q |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,684,082 (GRCm39) |
I308T |
probably benign |
Het |
| Gm10320 |
T |
C |
13: 98,628,491 (GRCm39) |
T7A |
probably benign |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Gmpr2 |
T |
A |
14: 55,910,192 (GRCm39) |
D7E |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,874,762 (GRCm39) |
Y1620H |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,123 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,129,082 (GRCm39) |
T188N |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,609,349 (GRCm39) |
D312V |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,329 (GRCm39) |
V501A |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Med13l |
T |
C |
5: 118,809,067 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Ndrg2 |
T |
A |
14: 52,144,460 (GRCm39) |
|
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,543 (GRCm39) |
S365T |
possibly damaging |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Or51e1 |
T |
A |
7: 102,359,202 (GRCm39) |
H245Q |
probably damaging |
Het |
| Pds5b |
C |
A |
5: 150,677,896 (GRCm39) |
Q505K |
probably benign |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,541 (GRCm39) |
V214A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,147,752 (GRCm39) |
C476S |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
T |
7: 44,001,718 (GRCm39) |
R1146W |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,461 (GRCm39) |
|
probably null |
Het |
| Strip1 |
C |
A |
3: 107,521,929 (GRCm39) |
D750Y |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,070,851 (GRCm39) |
K2312E |
possibly damaging |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Tnfaip1 |
A |
T |
11: 78,420,840 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,330 (GRCm39) |
W1754R |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,613,378 (GRCm39) |
P1301L |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vps41 |
T |
G |
13: 19,038,833 (GRCm39) |
|
probably null |
Het |
| Vps72 |
G |
T |
3: 95,029,894 (GRCm39) |
L304F |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,119 (GRCm39) |
T765A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,976,500 (GRCm39) |
H923L |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,742,799 (GRCm39) |
|
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 |
|
|
E0370:Wiz
|
UTSW |
17 |
32,574,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTTCCACTGTCCATGAGAAGAACCC -3'
(R):5'- CCCTTTGTGCTCACTGAAAGCAGG -3'
Sequencing Primer
(F):5'- TGAGAAGAACCCCTTAACCTGG -3'
(R):5'- CTCTGTCCATTAGAATTTGAACGC -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation