Incidental Mutation 'R1222:Zmiz1'
| ID |
152778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmiz1
|
| Ensembl Gene |
ENSMUSG00000007817 |
| Gene Name |
zinc finger, MIZ-type containing 1 |
| Synonyms |
Rai17, Zimp10 |
| MMRRC Submission |
039291-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
25459609-25667167 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 25658520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007961]
[ENSMUST00000162645]
|
| AlphaFold |
Q6P1E1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007961
|
| SMART Domains |
Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
| 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: ENSMUST00000162546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162645
|
| SMART Domains |
Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
96% (54/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,682 (GRCm39) |
L385* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,035,890 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,691,006 (GRCm39) |
S842P |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,842 (GRCm39) |
V483L |
probably damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,938,824 (GRCm39) |
C365* |
probably null |
Het |
| Ap2b1 |
T |
C |
11: 83,237,564 (GRCm39) |
S543P |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,438 (GRCm39) |
T67I |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cux1 |
C |
T |
5: 136,304,003 (GRCm39) |
R1391Q |
probably benign |
Het |
| Cyp2a4 |
T |
C |
7: 26,008,013 (GRCm39) |
V140A |
possibly damaging |
Het |
| Dlgap3 |
A |
T |
4: 127,088,406 (GRCm39) |
M1L |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,689,899 (GRCm39) |
D2G |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,407,534 (GRCm39) |
V938G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,707 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
G |
A |
6: 88,177,323 (GRCm39) |
V118I |
probably benign |
Het |
| Gm2663 |
T |
C |
6: 40,972,975 (GRCm39) |
I211V |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,033,284 (GRCm39) |
N104I |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,908,887 (GRCm39) |
H142L |
probably benign |
Het |
| Mmp10 |
T |
C |
9: 7,505,682 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
| Mylk |
T |
C |
16: 34,681,022 (GRCm39) |
V94A |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,760 (GRCm39) |
N396K |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,100,998 (GRCm39) |
S263P |
probably benign |
Het |
| Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,798,240 (GRCm39) |
L26H |
probably damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,313 (GRCm39) |
I292F |
probably damaging |
Het |
| Or7d10 |
G |
A |
9: 19,832,344 (GRCm39) |
V280I |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,637,680 (GRCm39) |
R368S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,482,957 (GRCm39) |
D1550G |
probably damaging |
Het |
| Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,191,953 (GRCm39) |
T1496S |
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,080 (GRCm39) |
L111P |
probably benign |
Het |
| Selplg |
C |
T |
5: 113,957,434 (GRCm39) |
V291M |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,080,934 (GRCm39) |
T50S |
possibly damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,257,114 (GRCm39) |
K640E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,262,656 (GRCm39) |
H40Q |
possibly damaging |
Het |
| Taar4 |
C |
T |
10: 23,837,230 (GRCm39) |
T280I |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,395,948 (GRCm39) |
N527S |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,725,131 (GRCm39) |
T218S |
possibly damaging |
Het |
| Trim45 |
G |
T |
3: 100,834,614 (GRCm39) |
M432I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,115,782 (GRCm39) |
|
probably null |
Het |
| Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,904,524 (GRCm39) |
H1037Q |
possibly 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 |
|
IGL01601:Zmiz1
|
APN |
14 |
25,582,068 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGACTTGACTTTAGCACACAC -3'
(R):5'- AGGTATAGAGCAACCCTGTCAGCC -3'
Sequencing Primer
(F):5'- TTTAGCACACACCTGGAGTG -3'
(R):5'- AGCTGAAGGTACTCACAGTTTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation