Incidental Mutation 'R6051:Zmiz1'
ID |
484112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmiz1
|
Ensembl Gene |
ENSMUSG00000007817 |
Gene Name |
zinc finger, MIZ-type containing 1 |
Synonyms |
Rai17, Zimp10 |
MMRRC Submission |
044219-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6051 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
25459609-25667167 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 25572494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007961]
[ENSMUST00000162645]
|
AlphaFold |
Q6P1E1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000007961
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000007961 Gene: ENSMUSG00000007817 AA Change: M1K
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: ENSMUST00000160680
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162645
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124863 Gene: ENSMUSG00000007817 AA Change: M1K
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,231,304 (GRCm39) |
A1021S |
possibly damaging |
Het |
Abl2 |
A |
G |
1: 156,469,655 (GRCm39) |
D869G |
probably damaging |
Het |
Adamts9 |
G |
A |
6: 92,836,907 (GRCm39) |
A615V |
possibly damaging |
Het |
Adamts9 |
A |
G |
6: 92,867,099 (GRCm39) |
Y96H |
probably damaging |
Het |
Arhgef37 |
A |
G |
18: 61,640,345 (GRCm39) |
I238T |
probably damaging |
Het |
Atr |
T |
A |
9: 95,790,422 (GRCm39) |
H1587Q |
possibly damaging |
Het |
BB014433 |
T |
C |
8: 15,092,179 (GRCm39) |
T225A |
possibly damaging |
Het |
Bcas2 |
T |
C |
3: 103,081,657 (GRCm39) |
Y87H |
possibly damaging |
Het |
Brca1 |
C |
T |
11: 101,415,072 (GRCm39) |
E160K |
probably damaging |
Het |
Cd2ap |
T |
C |
17: 43,107,219 (GRCm39) |
*638W |
probably null |
Het |
Chd2 |
A |
T |
7: 73,085,590 (GRCm39) |
D1681E |
probably benign |
Het |
Cit |
C |
T |
5: 115,984,464 (GRCm39) |
P12L |
probably benign |
Het |
Cracdl |
G |
T |
1: 37,663,306 (GRCm39) |
P864Q |
probably damaging |
Het |
Crisp1 |
T |
C |
17: 40,616,017 (GRCm39) |
Y120C |
possibly damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,049,610 (GRCm39) |
D46G |
probably benign |
Het |
Cyp2d34 |
A |
T |
15: 82,500,971 (GRCm39) |
V387D |
probably damaging |
Het |
E130311K13Rik |
T |
C |
3: 63,823,062 (GRCm39) |
H194R |
probably benign |
Het |
Egfr |
C |
A |
11: 16,833,607 (GRCm39) |
T625N |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 16,286,751 (GRCm39) |
V924A |
possibly damaging |
Het |
Fgd6 |
T |
C |
10: 93,973,427 (GRCm39) |
|
probably null |
Het |
Galnt6 |
A |
T |
15: 100,592,549 (GRCm39) |
C553S |
probably damaging |
Het |
Gm5617 |
T |
C |
9: 48,407,187 (GRCm39) |
L107P |
possibly damaging |
Het |
Hectd1 |
G |
T |
12: 51,800,887 (GRCm39) |
T2035N |
probably benign |
Het |
Hp1bp3 |
A |
G |
4: 137,961,615 (GRCm39) |
T154A |
possibly damaging |
Het |
Il10rb |
A |
G |
16: 91,218,752 (GRCm39) |
T262A |
probably benign |
Het |
Kansl1l |
A |
T |
1: 66,765,885 (GRCm39) |
N704K |
probably null |
Het |
Kbtbd12 |
T |
C |
6: 88,594,930 (GRCm39) |
D300G |
possibly damaging |
Het |
Lama4 |
G |
A |
10: 38,943,898 (GRCm39) |
A734T |
probably benign |
Het |
Mllt6 |
G |
T |
11: 97,571,569 (GRCm39) |
G1069* |
probably null |
Het |
Mns1 |
T |
C |
9: 72,356,735 (GRCm39) |
L302P |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,365,594 (GRCm39) |
C2039S |
possibly damaging |
Het |
Myof |
A |
G |
19: 38,012,809 (GRCm39) |
L42P |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,900,685 (GRCm39) |
L868S |
probably damaging |
Het |
Ndc80 |
C |
T |
17: 71,824,573 (GRCm39) |
G212E |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,581,657 (GRCm39) |
H610R |
probably benign |
Het |
Nufip2 |
T |
A |
11: 77,582,742 (GRCm39) |
Y219N |
probably damaging |
Het |
Or51m1 |
T |
C |
7: 103,578,084 (GRCm39) |
F18S |
probably damaging |
Het |
Pbxip1 |
T |
C |
3: 89,350,477 (GRCm39) |
S41P |
probably benign |
Het |
Phactr2 |
A |
T |
10: 13,137,555 (GRCm39) |
C196S |
probably null |
Het |
Ppp3ca |
T |
A |
3: 136,581,883 (GRCm39) |
Y140N |
probably damaging |
Het |
Ptprb |
C |
A |
10: 116,176,995 (GRCm39) |
Y1260* |
probably null |
Het |
Rap1a |
C |
T |
3: 105,657,613 (GRCm39) |
R2H |
possibly damaging |
Het |
Rbbp8 |
G |
A |
18: 11,871,664 (GRCm39) |
V794I |
probably benign |
Het |
Rbks |
T |
C |
5: 31,809,163 (GRCm39) |
N200S |
probably damaging |
Het |
Relch |
G |
T |
1: 105,648,997 (GRCm39) |
G712V |
probably damaging |
Het |
Rnf186 |
G |
T |
4: 138,695,277 (GRCm39) |
K272N |
probably damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,458 (GRCm39) |
P794S |
probably damaging |
Het |
Tbc1d30 |
T |
A |
10: 121,132,750 (GRCm39) |
I205F |
probably damaging |
Het |
Tkt |
C |
T |
14: 30,290,153 (GRCm39) |
P261S |
probably benign |
Het |
Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
Ttc14 |
T |
C |
3: 33,863,073 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,737,805 (GRCm39) |
S4245P |
probably benign |
Het |
Vmn1r75 |
A |
T |
7: 11,614,978 (GRCm39) |
I237F |
probably damaging |
Het |
Vmn2r57 |
T |
A |
7: 41,097,896 (GRCm39) |
H57L |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,960,809 (GRCm39) |
N40S |
possibly damaging |
Het |
Xcr1 |
A |
T |
9: 123,685,181 (GRCm39) |
F194I |
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 |
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 |
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'- ATAAAGCTGTGCACCCAGGG -3'
(R):5'- TGGAAGCAAAACTCCCAGAG -3'
Sequencing Primer
(F):5'- CACCCAGGGCCCCTCTG -3'
(R):5'- CCCAAAGTCAAACAGCTGGATGG -3'
|
Posted On |
2017-07-14 |