Incidental Mutation 'IGL01382:Zmiz2'
| ID |
78920 |
| 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 # |
IGL01382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6339074-6356158 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 6353781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012612]
[ENSMUST00000102914]
[ENSMUST00000109785]
[ENSMUST00000109786]
[ENSMUST00000109787]
|
| AlphaFold |
Q8CIE2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012612
|
| SMART Domains |
Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
| 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 null
Transcript: ENSMUST00000102914
|
| SMART Domains |
Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
| 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 null
Transcript: ENSMUST00000109785
|
| SMART Domains |
Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
| 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 null
Transcript: ENSMUST00000109786
|
| SMART Domains |
Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
| 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 null
Transcript: ENSMUST00000109787
|
| SMART Domains |
Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
| 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: 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
| Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
| Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
| Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
| Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
| Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
| Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
| Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
| Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
| Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
C |
T |
5: 112,573,487 (GRCm39) |
V842I |
probably benign |
Het |
| Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
| Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
| Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
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 |
|
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 |
2013-11-05 |
Incidental Mutation