Incidental Mutation 'R6015:Wiz'
ID |
478580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wiz
|
Ensembl Gene |
ENSMUSG00000024050 |
Gene Name |
widely-interspaced zinc finger motifs |
Synonyms |
|
MMRRC Submission |
043254-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6015 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
32573029-32608413 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32606574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 54
(I54F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063824]
[ENSMUST00000064694]
[ENSMUST00000087703]
[ENSMUST00000135618]
[ENSMUST00000136375]
[ENSMUST00000171728]
[ENSMUST00000163107]
[ENSMUST00000165912]
[ENSMUST00000169280]
[ENSMUST00000170603]
[ENSMUST00000170617]
[ENSMUST00000137458]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063824
|
SMART Domains |
Protein: ENSMUSP00000064084 Gene: ENSMUSG00000052142
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
low complexity region
|
120 |
137 |
N/A |
INTRINSIC |
PH
|
165 |
323 |
3.94e0 |
SMART |
Blast:RasGAP
|
354 |
381 |
9e-8 |
BLAST |
low complexity region
|
385 |
402 |
N/A |
INTRINSIC |
RasGAP
|
433 |
755 |
2.03e-81 |
SMART |
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
coiled coil region
|
932 |
1013 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064694
AA Change: I54F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069443 Gene: ENSMUSG00000024050 AA Change: I54F
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 |
noncoding transcript
Transcript: ENSMUST00000087699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087703
AA Change: I54F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000084993 Gene: ENSMUSG00000024050 AA Change: I54F
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 |
noncoding transcript
Transcript: ENSMUST00000122651
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135618
|
SMART Domains |
Protein: ENSMUSP00000116107 Gene: ENSMUSG00000052142
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
PH
|
143 |
301 |
3.94e0 |
SMART |
Blast:RasGAP
|
332 |
359 |
9e-8 |
BLAST |
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
RasGAP
|
411 |
733 |
2.03e-81 |
SMART |
low complexity region
|
804 |
817 |
N/A |
INTRINSIC |
coiled coil region
|
910 |
991 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136375
|
SMART Domains |
Protein: ENSMUSP00000118738 Gene: ENSMUSG00000052142
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
PH
|
143 |
301 |
3.94e0 |
SMART |
Blast:RasGAP
|
332 |
359 |
7e-8 |
BLAST |
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
Pfam:RasGAP
|
483 |
579 |
6.4e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171728
AA Change: I54F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130054 Gene: ENSMUSG00000024050 AA Change: I54F
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163107
AA Change: I54F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127943 Gene: ENSMUSG00000024050 AA Change: I54F
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165912
AA Change: I54F
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127651 Gene: ENSMUSG00000024050 AA Change: I54F
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
ZnF_C2H2
|
74 |
96 |
8.67e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169280
AA Change: I54F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129700 Gene: ENSMUSG00000024050 AA Change: I54F
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170603
AA Change: I54F
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128241 Gene: ENSMUSG00000024050 AA Change: I54F
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170617
AA Change: I54F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130517 Gene: ENSMUSG00000024050 AA Change: I54F
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172216
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142203
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137458
|
SMART Domains |
Protein: ENSMUSP00000123141 Gene: ENSMUSG00000052142
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
low complexity region
|
119 |
140 |
N/A |
INTRINSIC |
PH
|
167 |
325 |
3.94e0 |
SMART |
Blast:RasGAP
|
356 |
383 |
9e-8 |
BLAST |
low complexity region
|
387 |
404 |
N/A |
INTRINSIC |
RasGAP
|
435 |
757 |
2.03e-81 |
SMART |
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
coiled coil region
|
934 |
1015 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die prenatally. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
Parp3 |
C |
T |
9: 106,351,481 (GRCm39) |
V207M |
possibly damaging |
Het |
Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
Pik3ap1 |
T |
A |
19: 41,316,640 (GRCm39) |
Y250F |
probably benign |
Het |
Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
Sema4f |
A |
G |
6: 82,916,553 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
C |
A |
1: 106,928,337 (GRCm39) |
A319E |
probably benign |
Het |
Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,817,862 (GRCm39) |
|
probably null |
Het |
Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
Tpcn2 |
A |
G |
7: 144,820,588 (GRCm39) |
V341A |
probably damaging |
Het |
Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
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 |
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 |
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'- CCAAGACATCTGTTTTCATAAGGGC -3'
(R):5'- CAATGTCCTGCTGAACCTGC -3'
Sequencing Primer
(F):5'- CATCTGTTTTCATAAGGGCAAACTG -3'
(R):5'- TGAAGATTCACGGCTGGCAC -3'
|
Posted On |
2017-06-26 |