Incidental Mutation 'R4891:Wiz'
ID |
377325 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wiz
|
Ensembl Gene |
ENSMUSG00000024050 |
Gene Name |
widely-interspaced zinc finger motifs |
Synonyms |
|
MMRRC Submission |
042496-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32576602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 642
(S642P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064694]
[ENSMUST00000087703]
[ENSMUST00000163107]
[ENSMUST00000165912]
[ENSMUST00000169488]
[ENSMUST00000170617]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064694
AA Change: S642P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000069443 Gene: ENSMUSG00000024050 AA Change: S642P
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: S641P
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000084993 Gene: ENSMUSG00000024050 AA Change: S641P
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: S651P
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126253 Gene: ENSMUSG00000024050 AA Change: S651P
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,166,072 (GRCm39) |
Y1088C |
probably damaging |
Het |
Cercam |
C |
A |
2: 29,759,283 (GRCm39) |
|
probably benign |
Het |
Chst1 |
A |
G |
2: 92,444,337 (GRCm39) |
T270A |
possibly damaging |
Het |
Cluh |
C |
T |
11: 74,555,885 (GRCm39) |
T816I |
possibly damaging |
Het |
Edn3 |
A |
G |
2: 174,603,525 (GRCm39) |
H91R |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,069,409 (GRCm39) |
S487P |
probably benign |
Het |
Galns |
T |
A |
8: 123,325,895 (GRCm39) |
D212V |
possibly damaging |
Het |
Grin2a |
A |
G |
16: 9,475,570 (GRCm39) |
V582A |
possibly damaging |
Het |
Hs3st4 |
T |
A |
7: 123,996,052 (GRCm39) |
N239K |
possibly damaging |
Het |
Kmt2b |
C |
T |
7: 30,276,186 (GRCm39) |
W1062* |
probably null |
Het |
Lrp1 |
T |
C |
10: 127,377,621 (GRCm39) |
N4110S |
probably damaging |
Het |
Mag |
T |
C |
7: 30,599,793 (GRCm39) |
H582R |
possibly damaging |
Het |
Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
Ndufa5 |
A |
G |
6: 24,519,246 (GRCm39) |
V26A |
possibly damaging |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Or13j1 |
C |
T |
4: 43,706,194 (GRCm39) |
A125T |
probably damaging |
Het |
Or51g2 |
T |
A |
7: 102,622,759 (GRCm39) |
I147L |
probably benign |
Het |
Or5ac24 |
T |
A |
16: 59,165,834 (GRCm39) |
T77S |
possibly damaging |
Het |
Plxdc2 |
A |
G |
2: 16,716,957 (GRCm39) |
H347R |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 117,196,985 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
C |
T |
1: 184,991,563 (GRCm39) |
A683V |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,249,496 (GRCm39) |
V240A |
probably damaging |
Het |
Slc10a5 |
A |
T |
3: 10,399,685 (GRCm39) |
V325E |
possibly damaging |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
C |
T |
19: 4,788,497 (GRCm39) |
R1159C |
probably damaging |
Het |
Stk36 |
A |
G |
1: 74,642,415 (GRCm39) |
D14G |
probably damaging |
Het |
Thap2 |
T |
C |
10: 115,208,601 (GRCm39) |
K173R |
probably damaging |
Het |
Themis2 |
G |
T |
4: 132,510,668 (GRCm39) |
Q625K |
probably benign |
Het |
Vcpip1 |
G |
T |
1: 9,818,287 (GRCm39) |
P32Q |
unknown |
Het |
Vmn1r229 |
A |
T |
17: 21,035,081 (GRCm39) |
T109S |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,640,661 (GRCm39) |
|
probably null |
Het |
Wdr64 |
A |
G |
1: 175,526,345 (GRCm39) |
|
probably benign |
Het |
Zdhhc1 |
C |
T |
8: 106,199,649 (GRCm39) |
R383Q |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,060,055 (GRCm39) |
S1194P |
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 |
|
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'- GACAATTGCCATCCCATGAC -3'
(R):5'- AGAAGAAGTCCAAGCTGTGC -3'
Sequencing Primer
(F):5'- ATTGCCATCCCATGACCCTAC -3'
(R):5'- GAAGTCCAAGCTGTGCCTCATC -3'
|
Posted On |
2016-03-17 |