Incidental Mutation 'R5844:Zmiz1'
ID |
450609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmiz1
|
Ensembl Gene |
ENSMUSG00000007817 |
Gene Name |
zinc finger, MIZ-type containing 1 |
Synonyms |
Rai17, Zimp10 |
MMRRC Submission |
044062-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5844 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
25459609-25667167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25657354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 871
(S871P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007961]
[ENSMUST00000162645]
|
AlphaFold |
Q6P1E1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007961
AA Change: S871P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000007961 Gene: ENSMUSG00000007817 AA Change: S871P
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 damaging
Transcript: ENSMUST00000162645
AA Change: S877P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124863 Gene: ENSMUSG00000007817 AA Change: S877P
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 |
0.1328 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (55/56) |
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 |
4930407I10Rik |
A |
T |
15: 81,950,065 (GRCm39) |
M1321L |
probably benign |
Het |
Adra1a |
C |
T |
14: 66,965,183 (GRCm39) |
T391I |
probably benign |
Het |
Atf7ip |
C |
A |
6: 136,583,812 (GRCm39) |
A1281D |
probably damaging |
Het |
BC005624 |
T |
C |
2: 30,866,023 (GRCm39) |
N141S |
probably benign |
Het |
Catsperg2 |
A |
T |
7: 29,397,257 (GRCm39) |
L1082Q |
possibly damaging |
Het |
Cavin2 |
C |
T |
1: 51,328,998 (GRCm39) |
R152C |
probably damaging |
Het |
Ccdc33 |
C |
T |
9: 57,940,489 (GRCm39) |
|
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,784,135 (GRCm39) |
D466G |
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,230,858 (GRCm39) |
M923I |
probably damaging |
Het |
Chd1l |
T |
A |
3: 97,479,883 (GRCm39) |
K621N |
probably benign |
Het |
Cnksr1 |
A |
G |
4: 133,955,575 (GRCm39) |
|
probably benign |
Het |
Cym |
T |
C |
3: 107,127,080 (GRCm39) |
H25R |
probably benign |
Het |
Dagla |
T |
A |
19: 10,248,489 (GRCm39) |
D57V |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
A |
10: 34,029,038 (GRCm39) |
D684V |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxo10 |
A |
T |
4: 45,058,760 (GRCm39) |
S326T |
probably benign |
Het |
Galntl5 |
G |
T |
5: 25,391,091 (GRCm39) |
|
probably benign |
Het |
Grm5 |
A |
G |
7: 87,453,232 (GRCm39) |
R290G |
possibly damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,945,199 (GRCm39) |
T425A |
probably benign |
Het |
Hepacam2 |
A |
G |
6: 3,476,073 (GRCm39) |
I284T |
probably damaging |
Het |
Ifi205 |
A |
C |
1: 173,854,258 (GRCm39) |
|
probably null |
Het |
Irs3 |
T |
C |
5: 137,642,548 (GRCm39) |
T297A |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,039,036 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,697,542 (GRCm39) |
S782G |
probably benign |
Het |
Mis18a |
G |
A |
16: 90,523,969 (GRCm39) |
|
silent |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,181,182 (GRCm39) |
|
probably null |
Het |
Ntaq1 |
A |
G |
15: 58,017,056 (GRCm39) |
N157S |
probably benign |
Het |
Or13a1 |
A |
T |
6: 116,470,900 (GRCm39) |
E110V |
probably damaging |
Het |
Or5g25 |
A |
G |
2: 85,478,239 (GRCm39) |
V142A |
probably benign |
Het |
Pde3b |
C |
T |
7: 114,108,106 (GRCm39) |
T568I |
probably benign |
Het |
Pip4p1 |
T |
C |
14: 51,166,499 (GRCm39) |
T160A |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,451,685 (GRCm39) |
D2203E |
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,473,566 (GRCm39) |
K66E |
possibly damaging |
Het |
Rfc1 |
C |
A |
5: 65,451,130 (GRCm39) |
M319I |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Runx1t1 |
T |
C |
4: 13,881,068 (GRCm39) |
V456A |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,966,589 (GRCm39) |
K109R |
probably benign |
Het |
Sgo2a |
T |
G |
1: 58,055,556 (GRCm39) |
V580G |
probably damaging |
Het |
Skint9 |
T |
C |
4: 112,271,080 (GRCm39) |
Q110R |
probably benign |
Het |
Slc38a9 |
A |
G |
13: 112,868,035 (GRCm39) |
Y507C |
probably damaging |
Het |
Smarca4 |
T |
A |
9: 21,589,238 (GRCm39) |
|
probably benign |
Het |
Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tns3 |
A |
C |
11: 8,384,580 (GRCm39) |
F1413V |
probably damaging |
Het |
Trpm8 |
T |
C |
1: 88,312,433 (GRCm39) |
*1105Q |
probably null |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zim1 |
T |
C |
7: 6,681,115 (GRCm39) |
R183G |
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 |
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'- TCACCATTGACCCCACGT -3'
(R):5'- CATTCTCCCAAGTCCAGTGACC -3'
Sequencing Primer
(F):5'- ATTGACCCCACGTGCAGC -3'
(R):5'- TCTGGGAATTGAACCTACGC -3'
|
Posted On |
2016-12-20 |