Incidental Mutation 'R3885:Wiz'
| ID |
308734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wiz
|
| Ensembl Gene |
ENSMUSG00000024050 |
| Gene Name |
widely-interspaced zinc finger motifs |
| Synonyms |
|
| MMRRC Submission |
040905-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32576012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 798
(A798E)
|
| 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 benign
Transcript: ENSMUST00000064694
AA Change: A789E
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: A789E
| 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 benign
Transcript: ENSMUST00000087703
AA Change: A788E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: A788E
| 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 |
possibly damaging
Transcript: ENSMUST00000169488
AA Change: A798E
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
AA Change: A798E
| 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 |
0.0692 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
G |
A |
2: 28,623,897 (GRCm39) |
V161I |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,734,866 (GRCm39) |
I792F |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Boc |
T |
C |
16: 44,307,976 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
A |
11: 106,965,339 (GRCm39) |
T1170M |
probably damaging |
Het |
| Ccdc85a |
T |
A |
11: 28,526,677 (GRCm39) |
E310D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,881,876 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
| Eif2s1 |
T |
A |
12: 78,927,999 (GRCm39) |
I225N |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,498,345 (GRCm39) |
G245S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,243,066 (GRCm39) |
|
probably null |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Gck |
T |
C |
11: 5,860,318 (GRCm39) |
Y108C |
probably damaging |
Het |
| Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
| Gm5145 |
A |
T |
17: 20,791,272 (GRCm39) |
T217S |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,657 (GRCm39) |
Q96R |
probably damaging |
Het |
| H2ac22 |
A |
G |
13: 21,971,039 (GRCm39) |
L117P |
probably damaging |
Het |
| H2ac8 |
G |
T |
13: 23,755,053 (GRCm39) |
T77K |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,005,835 (GRCm39) |
H448Q |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,967 (GRCm39) |
I262V |
probably damaging |
Het |
| Mgst3 |
G |
T |
1: 167,200,131 (GRCm39) |
Q135K |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 90,930,899 (GRCm39) |
T766S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,326 (GRCm39) |
I38F |
probably benign |
Het |
| Ovch2 |
A |
G |
7: 107,395,775 (GRCm39) |
I81T |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,789,091 (GRCm39) |
N236Y |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,006,442 (GRCm39) |
E922G |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,894,991 (GRCm39) |
L843Q |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,596 (GRCm39) |
L164F |
possibly 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 |
|
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'- TCCTTCAGCAGCACTCACTG -3'
(R):5'- TCTGTGGCCTTTACTTTGAAAACC -3'
Sequencing Primer
(F):5'- GCAGCACTCACTGTTGATATTTTG -3'
(R):5'- ACATCTGCGGCAGTTCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation