Incidental Mutation 'IGL00923:Zmiz2'
ID |
28523 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zmiz2
|
Ensembl Gene |
ENSMUSG00000041164 |
Gene Name |
zinc finger, MIZ-type containing 2 |
Synonyms |
Zimp7, D11Bwg0280e, 2410117E06Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00923
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
6339074-6356158 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6352845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 631
(M631K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012612]
[ENSMUST00000102914]
[ENSMUST00000109785]
[ENSMUST00000109786]
[ENSMUST00000109787]
|
AlphaFold |
Q8CIE2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012612
AA Change: M657K
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000012612 Gene: ENSMUSG00000041164 AA Change: M657K
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
82 |
N/A |
INTRINSIC |
low complexity region
|
121 |
134 |
N/A |
INTRINSIC |
low complexity region
|
147 |
170 |
N/A |
INTRINSIC |
low complexity region
|
203 |
227 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
low complexity region
|
366 |
385 |
N/A |
INTRINSIC |
Pfam:zf-MIZ
|
596 |
645 |
1.7e-26 |
PFAM |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102914
AA Change: M625K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099978 Gene: ENSMUSG00000041164 AA Change: M625K
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
low complexity region
|
115 |
138 |
N/A |
INTRINSIC |
low complexity region
|
171 |
195 |
N/A |
INTRINSIC |
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
low complexity region
|
257 |
275 |
N/A |
INTRINSIC |
low complexity region
|
334 |
353 |
N/A |
INTRINSIC |
Pfam:zf-Nse
|
556 |
611 |
3.8e-8 |
PFAM |
Pfam:zf-MIZ
|
564 |
613 |
5.4e-26 |
PFAM |
low complexity region
|
689 |
704 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109785
AA Change: M631K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105408 Gene: ENSMUSG00000041164 AA Change: M631K
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
82 |
N/A |
INTRINSIC |
low complexity region
|
121 |
134 |
N/A |
INTRINSIC |
low complexity region
|
147 |
170 |
N/A |
INTRINSIC |
low complexity region
|
203 |
227 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
low complexity region
|
340 |
359 |
N/A |
INTRINSIC |
Pfam:zf-Nse
|
562 |
617 |
3.8e-8 |
PFAM |
Pfam:zf-MIZ
|
570 |
619 |
5.4e-26 |
PFAM |
low complexity region
|
695 |
710 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109786
AA Change: M657K
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105409 Gene: ENSMUSG00000041164 AA Change: M657K
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
82 |
N/A |
INTRINSIC |
low complexity region
|
121 |
134 |
N/A |
INTRINSIC |
low complexity region
|
147 |
170 |
N/A |
INTRINSIC |
low complexity region
|
203 |
227 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
low complexity region
|
366 |
385 |
N/A |
INTRINSIC |
Pfam:zf-Nse
|
588 |
643 |
4e-8 |
PFAM |
Pfam:zf-MIZ
|
596 |
645 |
5.6e-26 |
PFAM |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109787
AA Change: M657K
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105410 Gene: ENSMUSG00000041164 AA Change: M657K
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
82 |
N/A |
INTRINSIC |
low complexity region
|
121 |
134 |
N/A |
INTRINSIC |
low complexity region
|
147 |
170 |
N/A |
INTRINSIC |
low complexity region
|
203 |
227 |
N/A |
INTRINSIC |
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
low complexity region
|
366 |
385 |
N/A |
INTRINSIC |
Pfam:zf-Nse
|
588 |
643 |
4e-8 |
PFAM |
Pfam:zf-MIZ
|
596 |
645 |
5.6e-26 |
PFAM |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184154
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
A |
5: 89,832,235 (GRCm39) |
E956V |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,915 (GRCm39) |
G1071E |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,530,410 (GRCm39) |
V5888D |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,931,920 (GRCm39) |
T189I |
probably damaging |
Het |
Cp |
T |
C |
3: 20,024,165 (GRCm39) |
L335P |
probably damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,119,849 (GRCm39) |
|
probably null |
Het |
Dgki |
A |
T |
6: 36,839,391 (GRCm39) |
N933K |
probably benign |
Het |
Dixdc1 |
G |
T |
9: 50,579,033 (GRCm39) |
A660D |
probably damaging |
Het |
Dnajc9 |
T |
C |
14: 20,435,515 (GRCm39) |
D232G |
probably benign |
Het |
Dock9 |
A |
G |
14: 121,844,504 (GRCm39) |
|
probably benign |
Het |
Elp6 |
A |
T |
9: 110,139,193 (GRCm39) |
T29S |
probably damaging |
Het |
Fam8a1 |
T |
C |
13: 46,827,147 (GRCm39) |
|
probably null |
Het |
Fbn2 |
A |
T |
18: 58,145,397 (GRCm39) |
D2746E |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,815,348 (GRCm39) |
N737K |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,386,285 (GRCm39) |
V737A |
possibly damaging |
Het |
Ndrg1 |
A |
T |
15: 66,814,959 (GRCm39) |
N164K |
probably damaging |
Het |
Nrtn |
A |
G |
17: 57,059,447 (GRCm39) |
S11P |
probably damaging |
Het |
Or4c11c |
T |
G |
2: 88,661,456 (GRCm39) |
|
probably null |
Het |
Or4f62 |
T |
A |
2: 111,987,122 (GRCm39) |
D275E |
possibly damaging |
Het |
Rab10 |
T |
A |
12: 3,303,334 (GRCm39) |
M118L |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,295,669 (GRCm39) |
V175A |
probably benign |
Het |
Tex21 |
T |
A |
12: 76,291,885 (GRCm39) |
D12V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
Vmn1r215 |
G |
A |
13: 23,260,419 (GRCm39) |
G153D |
probably damaging |
Het |
Zc3h4 |
A |
G |
7: 16,163,617 (GRCm39) |
D612G |
unknown |
Het |
Zfp354c |
A |
T |
11: 50,706,440 (GRCm39) |
Y212N |
probably damaging |
Het |
|
Other mutations in Zmiz2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01345:Zmiz2
|
APN |
11 |
6,355,015 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL01382:Zmiz2
|
APN |
11 |
6,353,781 (GRCm39) |
splice site |
probably null |
|
IGL02942:Zmiz2
|
APN |
11 |
6,349,500 (GRCm39) |
splice site |
probably benign |
|
IGL03156:Zmiz2
|
APN |
11 |
6,349,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03301:Zmiz2
|
APN |
11 |
6,351,170 (GRCm39) |
missense |
probably damaging |
1.00 |
P0037:Zmiz2
|
UTSW |
11 |
6,353,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R0938:Zmiz2
|
UTSW |
11 |
6,347,185 (GRCm39) |
missense |
probably benign |
|
R1666:Zmiz2
|
UTSW |
11 |
6,346,836 (GRCm39) |
missense |
probably benign |
0.00 |
R1692:Zmiz2
|
UTSW |
11 |
6,350,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R4877:Zmiz2
|
UTSW |
11 |
6,353,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Zmiz2
|
UTSW |
11 |
6,347,519 (GRCm39) |
nonsense |
probably null |
|
R5646:Zmiz2
|
UTSW |
11 |
6,352,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R5783:Zmiz2
|
UTSW |
11 |
6,355,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R5875:Zmiz2
|
UTSW |
11 |
6,355,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6276:Zmiz2
|
UTSW |
11 |
6,345,604 (GRCm39) |
splice site |
probably null |
|
R6962:Zmiz2
|
UTSW |
11 |
6,352,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R6974:Zmiz2
|
UTSW |
11 |
6,347,566 (GRCm39) |
nonsense |
probably null |
|
R6983:Zmiz2
|
UTSW |
11 |
6,352,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7271:Zmiz2
|
UTSW |
11 |
6,349,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8511:Zmiz2
|
UTSW |
11 |
6,353,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R8523:Zmiz2
|
UTSW |
11 |
6,352,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R8720:Zmiz2
|
UTSW |
11 |
6,349,904 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8905:Zmiz2
|
UTSW |
11 |
6,346,840 (GRCm39) |
missense |
probably damaging |
0.98 |
R9110:Zmiz2
|
UTSW |
11 |
6,348,271 (GRCm39) |
missense |
probably benign |
0.44 |
R9210:Zmiz2
|
UTSW |
11 |
6,346,277 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9659:Zmiz2
|
UTSW |
11 |
6,346,814 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Zmiz2
|
UTSW |
11 |
6,349,603 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Zmiz2
|
UTSW |
11 |
6,353,871 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1177:Zmiz2
|
UTSW |
11 |
6,351,230 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Zmiz2
|
UTSW |
11 |
6,347,580 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Posted On |
2013-04-17 |