Incidental Mutation 'R5014:Wiz'
| ID |
385459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wiz
|
| Ensembl Gene |
ENSMUSG00000024050 |
| Gene Name |
widely-interspaced zinc finger motifs |
| Synonyms |
|
| MMRRC Submission |
042605-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5014 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32578340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 391
(N391D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064694]
[ENSMUST00000087703]
[ENSMUST00000163107]
[ENSMUST00000165912]
[ENSMUST00000169488]
[ENSMUST00000170617]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064694
AA Change: N382D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: N382D
| 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: N382D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: N382D
| 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 benign
Transcript: ENSMUST00000165912
|
| SMART Domains |
Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
74 |
96 |
8.67e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168943
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169488
AA Change: N391D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: N391D
| 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 |
noncoding transcript
Transcript: ENSMUST00000169741
|
| 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 |
0.1246 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.7%
|
| Validation Efficiency |
97% (83/86) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,896 (GRCm39) |
T1353A |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,840,957 (GRCm39) |
I1072N |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,438 (GRCm39) |
T517A |
probably benign |
Het |
| Blk |
T |
G |
14: 63,617,236 (GRCm39) |
N257T |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,417,372 (GRCm39) |
|
probably benign |
Het |
| Calr4 |
C |
T |
4: 109,092,994 (GRCm39) |
Q25* |
probably null |
Het |
| Cbl |
T |
C |
9: 44,065,696 (GRCm39) |
|
probably null |
Het |
| Ccdc30 |
T |
G |
4: 119,250,824 (GRCm39) |
H6P |
possibly damaging |
Het |
| Cd101 |
A |
C |
3: 100,911,139 (GRCm39) |
Y840D |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,556,165 (GRCm39) |
N178Y |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,803,952 (GRCm39) |
T1044A |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,207,291 (GRCm39) |
V1876A |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,925,765 (GRCm39) |
M58K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,755,793 (GRCm39) |
E860G |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,794 (GRCm39) |
|
probably null |
Het |
| Cul7 |
A |
G |
17: 46,966,868 (GRCm39) |
*650W |
probably null |
Het |
| Dkk4 |
C |
T |
8: 23,115,315 (GRCm39) |
A55V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,128,992 (GRCm39) |
E407G |
probably damaging |
Het |
| Dnase1 |
C |
A |
16: 3,856,880 (GRCm39) |
Y170* |
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,823,550 (GRCm39) |
I1019S |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,486,942 (GRCm39) |
H1035L |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,177,776 (GRCm39) |
T408A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,998,414 (GRCm39) |
E305G |
probably damaging |
Het |
| Garin1b |
C |
T |
6: 29,326,723 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,389,821 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10010 |
C |
T |
6: 128,177,556 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
T |
C |
1: 21,363,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,193,506 (GRCm39) |
V349G |
probably benign |
Het |
| Gtsf1l |
C |
T |
2: 162,929,112 (GRCm39) |
V124I |
probably damaging |
Het |
| Gucy1b1 |
C |
G |
3: 81,953,974 (GRCm39) |
G114A |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,720,936 (GRCm39) |
Q166R |
possibly damaging |
Het |
| Hook2 |
A |
G |
8: 85,718,006 (GRCm39) |
I44M |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,541,921 (GRCm39) |
M222K |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,997,640 (GRCm39) |
F55Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,388 (GRCm39) |
N314S |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,746,748 (GRCm39) |
F748L |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,826,407 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
A |
T |
17: 88,025,004 (GRCm39) |
K627N |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,251,534 (GRCm39) |
Q219R |
probably damaging |
Het |
| Ndufb3 |
T |
A |
1: 58,630,401 (GRCm39) |
W51R |
probably damaging |
Het |
| Nfasc |
A |
T |
1: 132,512,185 (GRCm39) |
|
probably benign |
Het |
| Or2c1 |
T |
A |
16: 3,656,912 (GRCm39) |
I25N |
probably benign |
Het |
| Or2h2 |
T |
A |
17: 37,396,446 (GRCm39) |
I204F |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,857 (GRCm39) |
V222A |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,832,199 (GRCm39) |
E229V |
probably damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,701,224 (GRCm39) |
L837* |
probably null |
Het |
| Ppp2r1a |
G |
A |
17: 21,179,101 (GRCm39) |
|
probably null |
Het |
| Rabgap1 |
T |
A |
2: 37,377,152 (GRCm39) |
V328E |
probably damaging |
Het |
| Ralgapb |
G |
A |
2: 158,337,455 (GRCm39) |
R1138Q |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,299,942 (GRCm39) |
Q498L |
probably benign |
Het |
| Rbx1 |
T |
A |
15: 81,355,161 (GRCm39) |
C56S |
probably damaging |
Het |
| Rcan2 |
T |
C |
17: 44,328,704 (GRCm39) |
F45S |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,980,770 (GRCm39) |
Y185C |
probably damaging |
Het |
| Rorc |
T |
G |
3: 94,298,460 (GRCm39) |
L315R |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,401 (GRCm39) |
V194A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,290,987 (GRCm39) |
K406E |
possibly damaging |
Het |
| Slc35g3 |
T |
A |
11: 69,651,866 (GRCm39) |
K62* |
probably null |
Het |
| Sox30 |
T |
C |
11: 45,882,736 (GRCm39) |
S589P |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,284,538 (GRCm39) |
C849Y |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,384,043 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
C |
T |
9: 21,027,126 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
C |
A |
1: 57,446,004 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,822,897 (GRCm39) |
C1401S |
probably benign |
Het |
| Ylpm1 |
G |
A |
12: 85,061,523 (GRCm39) |
E475K |
unknown |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,142,594 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp990 |
T |
A |
4: 145,264,669 (GRCm39) |
C556S |
possibly damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,951,892 (GRCm39) |
P189L |
probably damaging |
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 |
|
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 |
|
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'- TGTGAAGATCAGAGGGACTTCG -3'
(R):5'- TTATGGACACACTGCTGCCC -3'
Sequencing Primer
(F):5'- ATCAGAGGGACTTCGGGCTTC -3'
(R):5'- CAGGTGACTATCCAGATGATGTCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation