Incidental Mutation 'IGL01601:Zmiz1'
| ID |
91765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zmiz1
|
| Ensembl Gene |
ENSMUSG00000007817 |
| Gene Name |
zinc finger, MIZ-type containing 1 |
| Synonyms |
Rai17, Zimp10 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
25459609-25667167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25582068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 84
(N84S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007961]
[ENSMUST00000162645]
|
| AlphaFold |
Q6P1E1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007961
AA Change: N84S
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: N84S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
268 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
280 |
323 |
1e-3 |
SMART |
|
low complexity region
|
431 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
526 |
N/A |
INTRINSIC |
|
Pfam:zf-Nse
|
731 |
786 |
3.5e-8 |
PFAM |
|
Pfam:zf-MIZ
|
739 |
788 |
7.6e-26 |
PFAM |
|
low complexity region
|
867 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1039 |
1062 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159766
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162645
AA Change: N84S
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: N84S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
123 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
268 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
280 |
309 |
2e-3 |
SMART |
|
low complexity region
|
437 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
532 |
N/A |
INTRINSIC |
|
Pfam:zf-MIZ
|
745 |
794 |
2.1e-26 |
PFAM |
|
low complexity region
|
873 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1045 |
1068 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
| Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
| Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
| Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
| Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
|
| Other mutations in Zmiz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Zmiz1
|
APN |
14 |
25,572,494 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
IGL01582:Zmiz1
|
APN |
14 |
25,658,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02008:Zmiz1
|
APN |
14 |
25,657,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02395:Zmiz1
|
APN |
14 |
25,657,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Zmiz1
|
APN |
14 |
25,657,166 (GRCm39) |
splice site |
probably benign |
|
|
zapp
|
UTSW |
14 |
25,663,404 (GRCm39) |
missense |
unknown |
|
|
R0144:Zmiz1
|
UTSW |
14 |
25,655,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Zmiz1
|
UTSW |
14 |
25,654,919 (GRCm39) |
splice site |
probably benign |
|
|
R1006:Zmiz1
|
UTSW |
14 |
25,663,404 (GRCm39) |
missense |
unknown |
|
|
R1160:Zmiz1
|
UTSW |
14 |
25,654,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Zmiz1
|
UTSW |
14 |
25,658,520 (GRCm39) |
splice site |
probably benign |
|
|
R2846:Zmiz1
|
UTSW |
14 |
25,646,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4126:Zmiz1
|
UTSW |
14 |
25,657,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4373:Zmiz1
|
UTSW |
14 |
25,636,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4374:Zmiz1
|
UTSW |
14 |
25,636,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4377:Zmiz1
|
UTSW |
14 |
25,636,434 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4533:Zmiz1
|
UTSW |
14 |
25,646,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Zmiz1
|
UTSW |
14 |
25,644,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5295:Zmiz1
|
UTSW |
14 |
25,656,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Zmiz1
|
UTSW |
14 |
25,650,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Zmiz1
|
UTSW |
14 |
25,645,280 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5761:Zmiz1
|
UTSW |
14 |
25,651,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Zmiz1
|
UTSW |
14 |
25,651,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5844:Zmiz1
|
UTSW |
14 |
25,657,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Zmiz1
|
UTSW |
14 |
25,636,390 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6051:Zmiz1
|
UTSW |
14 |
25,572,494 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6919:Zmiz1
|
UTSW |
14 |
25,644,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Zmiz1
|
UTSW |
14 |
25,652,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Zmiz1
|
UTSW |
14 |
25,576,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7216:Zmiz1
|
UTSW |
14 |
25,576,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7216:Zmiz1
|
UTSW |
14 |
25,576,624 (GRCm39) |
frame shift |
probably null |
|
|
R7233:Zmiz1
|
UTSW |
14 |
25,650,092 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8674:Zmiz1
|
UTSW |
14 |
25,647,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Zmiz1
|
UTSW |
14 |
25,646,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Zmiz1
|
UTSW |
14 |
25,651,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9611:Zmiz1
|
UTSW |
14 |
25,651,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Zmiz1
|
UTSW |
14 |
25,663,411 (GRCm39) |
missense |
unknown |
|
|
R9740:Zmiz1
|
UTSW |
14 |
25,657,250 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0023:Zmiz1
|
UTSW |
14 |
25,650,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Zmiz1
|
UTSW |
14 |
25,646,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation