Incidental Mutation 'IGL03156:Zmiz2'
| ID |
411265 |
| 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 # |
IGL03156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6339074-6356158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6349536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 399
(F399L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012612]
[ENSMUST00000102914]
[ENSMUST00000109785]
[ENSMUST00000109786]
[ENSMUST00000109787]
|
| AlphaFold |
Q8CIE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012612
AA Change: F425L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: F425L
| 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: F393L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: F393L
| 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: F399L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: F399L
| 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 |
probably damaging
Transcript: ENSMUST00000109786
AA Change: F425L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: F425L
| 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 |
probably damaging
Transcript: ENSMUST00000109787
AA Change: F425L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: F425L
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
| Ccdc159 |
G |
T |
9: 21,840,771 (GRCm39) |
V113L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
| Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
| Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
| Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
| Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,512,023 (GRCm39) |
V19A |
probably benign |
Het |
| Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,757 (GRCm39) |
D12G |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
| Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
| Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,286 (GRCm39) |
D148E |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,379,451 (GRCm39) |
D232G |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
| Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
| Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
| Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zmiz2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Zmiz2
|
APN |
11 |
6,352,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation