Incidental Mutation 'R4118:Wiz'
| ID |
315199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wiz
|
| Ensembl Gene |
ENSMUSG00000024050 |
| Gene Name |
widely-interspaced zinc finger motifs |
| Synonyms |
|
| MMRRC Submission |
041631-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to T
at 32588331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130054
(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 benign
Transcript: ENSMUST00000064694
|
| SMART Domains |
Protein: ENSMUSP00000069443
Gene: ENSMUSG00000024050
| 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
|
| SMART Domains |
Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000180608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172216
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
92% (55/60) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
| 4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,113,384 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,180 (GRCm39) |
S646T |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
| Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
| Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
| Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
| Rpgrip1l |
G |
A |
8: 91,979,535 (GRCm39) |
T969I |
probably benign |
Het |
| Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,137,893 (GRCm39) |
|
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,673,921 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
| Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
| Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,844,016 (GRCm39) |
R1018H |
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 |
|
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 |
|
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'- CCCTGCAGAATGCTACAGTAGG -3'
(R):5'- ATTCCCGCCGAATAATCTCTGG -3'
Sequencing Primer
(F):5'- TGCTACAGTAGGATTCAGAGTAAG -3'
(R):5'- GCCGAATAATCTCTGGTCCAGTAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation