Incidental Mutation 'R8686:Wiz'
| ID |
662073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wiz
|
| Ensembl Gene |
ENSMUSG00000024050 |
| Gene Name |
widely-interspaced zinc finger motifs |
| Synonyms |
|
| MMRRC Submission |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32354055-32389401 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32367847 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 163
(D163V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064694]
[ENSMUST00000087703]
[ENSMUST00000163107]
[ENSMUST00000165912]
[ENSMUST00000169280]
[ENSMUST00000169488]
[ENSMUST00000170617]
[ENSMUST00000171728]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064694
AA Change: D163V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
AA Change: D163V
| 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: D163V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
AA Change: D163V
| 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: ENSMUST00000165912
AA Change: D163V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050
AA Change: D163V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
74 |
96 |
8.67e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169280
|
| SMART Domains |
Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169488
|
| SMART Domains |
Protein: ENSMUSP00000126253
Gene: ENSMUSG00000024050
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171728
|
| SMART Domains |
Protein: ENSMUSP00000130054
Gene: ENSMUSG00000024050
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1300017J02Rik |
C |
T |
9: 103,259,428 |
A525T |
probably benign |
Het |
| Adam25 |
A |
G |
8: 40,755,484 |
T596A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,313,699 |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,743,801 |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,988,128 |
R939H |
probably damaging |
Het |
| Ccdc114 |
A |
G |
7: 45,947,692 |
T456A |
probably benign |
Het |
| Cd22 |
G |
A |
7: 30,870,069 |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,659,604 |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,095,380 |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,421,987 |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,733,093 |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,170,805 |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,286,683 |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,000,886 |
D26E |
probably damaging |
Het |
| Emilin1 |
A |
T |
5: 30,917,696 |
K427M |
possibly damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,234 |
L56S |
probably benign |
Het |
| Fbxo18 |
C |
T |
2: 11,755,658 |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,379,023 |
T644I |
probably benign |
Het |
| G6pc |
T |
G |
11: 101,374,707 |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,836,687 |
S1245P |
probably benign |
Het |
| Gm10696 |
T |
C |
3: 94,176,120 |
D128G |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,359,406 |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,980,904 |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,215 |
|
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,761,450 |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,360,935 |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,981,853 |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,732,781 |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,994,073 |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,541,717 |
T327M |
probably damaging |
Het |
| Mettl7b |
A |
T |
10: 128,960,607 |
M111K |
possibly damaging |
Het |
| Myo9b |
G |
T |
8: 71,334,322 |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,369,771 |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,368,843 |
T202A |
possibly damaging |
Het |
| Olfr128 |
T |
C |
17: 37,924,277 |
V237A |
probably benign |
Het |
| Olfr710 |
A |
C |
7: 106,944,698 |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,117,922 |
S80T |
probably benign |
Het |
| Pde1a |
C |
T |
2: 79,927,742 |
V50I |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,997,522 |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,866,215 |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,658,529 |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,311,993 |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,244,691 |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,335,663 |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,829,426 |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,822,841 |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,576,811 |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,733,574 |
I418N |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,355,606 |
V420A |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,415,693 |
N174I |
probably damaging |
Het |
| Speer4e |
T |
C |
5: 14,934,115 |
N229S |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 21,152,935 |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,552,006 |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,108,284 |
N191S |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,612,268 |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,872,691 |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,389 |
S3823R |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 117,381,359 |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,845,644 |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,886,069 |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,287,453 |
N264D |
probably benign |
Het |
|
| Other mutations in Wiz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02145:Wiz
|
APN |
17 |
32,356,919 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02176:Wiz
|
APN |
17 |
32,356,902 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02212:Wiz
|
APN |
17 |
32,368,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02213:Wiz
|
APN |
17 |
32,367,860 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02616:Wiz
|
APN |
17 |
32,359,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02654:Wiz
|
APN |
17 |
32,359,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02833:Wiz
|
APN |
17 |
32,357,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03032:Wiz
|
APN |
17 |
32,356,558 (GRCm38) |
missense |
probably benign |
|
|
E0370:Wiz
|
UTSW |
17 |
32,355,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03138:Wiz
|
UTSW |
17 |
32,359,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4494001:Wiz
|
UTSW |
17 |
32,361,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0197:Wiz
|
UTSW |
17 |
32,356,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0207:Wiz
|
UTSW |
17 |
32,357,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0701:Wiz
|
UTSW |
17 |
32,356,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0883:Wiz
|
UTSW |
17 |
32,356,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1055:Wiz
|
UTSW |
17 |
32,387,642 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1968:Wiz
|
UTSW |
17 |
32,359,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2225:Wiz
|
UTSW |
17 |
32,356,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2423:Wiz
|
UTSW |
17 |
32,361,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2860:Wiz
|
UTSW |
17 |
32,361,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2861:Wiz
|
UTSW |
17 |
32,361,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3056:Wiz
|
UTSW |
17 |
32,357,697 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3755:Wiz
|
UTSW |
17 |
32,359,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3885:Wiz
|
UTSW |
17 |
32,357,038 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R3933:Wiz
|
UTSW |
17 |
32,357,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4038:Wiz
|
UTSW |
17 |
32,359,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4118:Wiz
|
UTSW |
17 |
32,369,357 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4181:Wiz
|
UTSW |
17 |
32,367,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4651:Wiz
|
UTSW |
17 |
32,357,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Wiz
|
UTSW |
17 |
32,356,437 (GRCm38) |
nonsense |
probably null |
|
|
R4891:Wiz
|
UTSW |
17 |
32,357,628 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4923:Wiz
|
UTSW |
17 |
32,361,596 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5014:Wiz
|
UTSW |
17 |
32,359,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5194:Wiz
|
UTSW |
17 |
32,377,848 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5254:Wiz
|
UTSW |
17 |
32,378,496 (GRCm38) |
splice site |
probably benign |
|
|
R5944:Wiz
|
UTSW |
17 |
32,357,697 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6015:Wiz
|
UTSW |
17 |
32,387,600 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6263:Wiz
|
UTSW |
17 |
32,360,443 (GRCm38) |
splice site |
probably null |
|
|
R6571:Wiz
|
UTSW |
17 |
32,359,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6823:Wiz
|
UTSW |
17 |
32,360,421 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7014:Wiz
|
UTSW |
17 |
32,361,866 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7051:Wiz
|
UTSW |
17 |
32,361,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7144:Wiz
|
UTSW |
17 |
32,357,628 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7221:Wiz
|
UTSW |
17 |
32,359,165 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7260:Wiz
|
UTSW |
17 |
32,359,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7453:Wiz
|
UTSW |
17 |
32,379,075 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7849:Wiz
|
UTSW |
17 |
32,357,786 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9150:Wiz
|
UTSW |
17 |
32,367,835 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9298:Wiz
|
UTSW |
17 |
32,361,740 (GRCm38) |
missense |
probably benign |
|
|
R9564:Wiz
|
UTSW |
17 |
32,356,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9565:Wiz
|
UTSW |
17 |
32,356,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
U24488:Wiz
|
UTSW |
17 |
32,387,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Wiz
|
UTSW |
17 |
32,387,758 (GRCm38) |
start codon destroyed |
probably null |
0.94 |
|
Z1176:Wiz
|
UTSW |
17 |
32,361,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Wiz
|
UTSW |
17 |
32,357,778 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTATGTGGCAATATAGTGGTG -3'
(R):5'- TGGGAACTCACCATCTCACC -3'
Sequencing Primer
(F):5'- AATAGGATCCGACTATGTGGCTTAGC -3'
(R):5'- CCATCAACATCCTGCAAGAGCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation