Incidental Mutation 'R4533:Zmiz1'
ID |
386366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmiz1
|
Ensembl Gene |
ENSMUSG00000007817 |
Gene Name |
zinc finger, MIZ-type containing 1 |
Synonyms |
Rai17, Zimp10 |
MMRRC Submission |
041773-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4533 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
25459609-25667167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25646084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 254
(Y254H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007961]
[ENSMUST00000162645]
|
AlphaFold |
Q6P1E1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007961
AA Change: Y254H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000007961 Gene: ENSMUSG00000007817 AA Change: Y254H
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 |
noncoding transcript
Transcript: ENSMUST00000160190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160229
|
SMART Domains |
Protein: ENSMUSP00000124820 Gene: ENSMUSG00000007817
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
77 |
N/A |
INTRINSIC |
low complexity region
|
115 |
144 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162645
AA Change: Y254H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124863 Gene: ENSMUSG00000007817 AA Change: Y254H
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 |
0.1035 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (54/54) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,062,761 (GRCm39) |
Y405C |
probably damaging |
Het |
Ago3 |
A |
T |
4: 126,239,356 (GRCm39) |
S832T |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,929,798 (GRCm39) |
E561G |
possibly damaging |
Het |
Art5 |
T |
C |
7: 101,747,545 (GRCm39) |
H78R |
probably benign |
Het |
Blvra |
T |
A |
2: 126,932,304 (GRCm39) |
|
probably null |
Het |
Ccdc171 |
A |
G |
4: 83,575,579 (GRCm39) |
T488A |
possibly damaging |
Het |
Crtc3 |
A |
T |
7: 80,239,543 (GRCm39) |
M603K |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,981,037 (GRCm39) |
|
probably null |
Het |
Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
Gm7356 |
A |
C |
17: 14,221,672 (GRCm39) |
I119R |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,449,392 (GRCm39) |
D1963E |
probably benign |
Het |
Ighv1-37 |
A |
T |
12: 114,860,147 (GRCm39) |
V21D |
probably damaging |
Het |
Itga3 |
T |
G |
11: 94,948,119 (GRCm39) |
Q602P |
probably benign |
Het |
Kcmf1 |
G |
A |
6: 72,826,574 (GRCm39) |
R152C |
probably damaging |
Het |
Lin54 |
T |
C |
5: 100,633,262 (GRCm39) |
I141V |
possibly damaging |
Het |
Mast1 |
T |
A |
8: 85,647,990 (GRCm39) |
H497L |
probably damaging |
Het |
Mrpl44 |
T |
C |
1: 79,753,971 (GRCm39) |
F41S |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,840,891 (GRCm39) |
R2301G |
probably damaging |
Het |
Nek1 |
A |
T |
8: 61,460,247 (GRCm39) |
M58L |
possibly damaging |
Het |
Or4k15c |
T |
C |
14: 50,321,156 (GRCm39) |
|
probably null |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
P3h3 |
A |
G |
6: 124,831,371 (GRCm39) |
V338A |
possibly damaging |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pcdha7 |
T |
C |
18: 37,108,460 (GRCm39) |
V495A |
possibly damaging |
Het |
Plcb3 |
T |
C |
19: 6,933,640 (GRCm39) |
E895G |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,516,057 (GRCm39) |
E770G |
probably damaging |
Het |
Ptchd3 |
C |
T |
11: 121,727,257 (GRCm39) |
S377F |
probably damaging |
Het |
Ptprj |
C |
T |
2: 90,270,299 (GRCm39) |
D1266N |
probably damaging |
Het |
Raly |
A |
T |
2: 154,707,853 (GRCm39) |
E291V |
probably damaging |
Het |
Rnf217 |
C |
A |
10: 31,484,759 (GRCm39) |
C141F |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,083,714 (GRCm39) |
M914V |
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,997,547 (GRCm39) |
T1035A |
probably damaging |
Het |
Tex14 |
C |
T |
11: 87,427,655 (GRCm39) |
R36* |
probably null |
Het |
Tiparp |
A |
G |
3: 65,453,768 (GRCm39) |
D172G |
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
Uap1 |
A |
T |
1: 169,970,994 (GRCm39) |
I466N |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,772,963 (GRCm39) |
T426A |
possibly damaging |
Het |
Vmn1r77 |
T |
A |
7: 11,775,756 (GRCm39) |
H177Q |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
Vwc2l |
G |
A |
1: 70,921,298 (GRCm39) |
C151Y |
probably damaging |
Het |
Wdr12 |
T |
C |
1: 60,117,354 (GRCm39) |
Y414C |
probably benign |
Het |
Zfp609 |
A |
C |
9: 65,610,890 (GRCm39) |
V691G |
probably benign |
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 |
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 |
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'- TGGAAATGTCCTAGCCCCAG -3'
(R):5'- CTGTGTCTCTTGCAAGGCTG -3'
Sequencing Primer
(F):5'- GGCCTTGTCATCACTAGTAGCAAG -3'
(R):5'- GCTGCCACTGTAGCTGTG -3'
|
Posted On |
2016-05-19 |