Incidental Mutation 'IGL02942:Zmiz2'
| ID |
364571 |
| 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 # |
IGL02942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6339074-6356158 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 6349500 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 benign
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 benign
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 benign
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 benign
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 benign
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: 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
C |
15: 91,033,378 (GRCm39) |
D679E |
probably damaging |
Het |
| Adh6a |
A |
T |
3: 138,030,642 (GRCm39) |
D88V |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,809,707 (GRCm39) |
V1123I |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,922,335 (GRCm39) |
V801A |
possibly damaging |
Het |
| Bcl2a1a |
C |
T |
9: 88,839,095 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
A |
G |
18: 34,743,680 (GRCm39) |
V215A |
possibly damaging |
Het |
| Cdk17 |
G |
A |
10: 93,074,830 (GRCm39) |
V454I |
probably benign |
Het |
| Chd5 |
G |
A |
4: 152,470,182 (GRCm39) |
G1876D |
probably damaging |
Het |
| Clec4g |
T |
C |
8: 3,768,356 (GRCm39) |
E125G |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,247,420 (GRCm39) |
G1602D |
probably damaging |
Het |
| Depdc7 |
A |
C |
2: 104,558,439 (GRCm39) |
L194R |
probably damaging |
Het |
| Dgke |
T |
G |
11: 88,946,195 (GRCm39) |
N202H |
probably benign |
Het |
| Dkk2 |
T |
A |
3: 131,883,798 (GRCm39) |
C233S |
probably damaging |
Het |
| Dmpk |
A |
C |
7: 18,826,166 (GRCm39) |
D542A |
probably damaging |
Het |
| Epb41l4a |
G |
A |
18: 34,007,254 (GRCm39) |
R246W |
probably damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,493 (GRCm39) |
Q1438L |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,643 (GRCm39) |
|
probably null |
Het |
| Gm10295 |
T |
C |
7: 71,000,250 (GRCm39) |
K110R |
unknown |
Het |
| Ifrd1 |
A |
G |
12: 40,267,375 (GRCm39) |
|
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,296,624 (GRCm39) |
T365A |
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,559,383 (GRCm39) |
K551R |
probably benign |
Het |
| Lama2 |
A |
T |
10: 26,917,216 (GRCm39) |
N2236K |
probably damaging |
Het |
| Larp7 |
A |
T |
3: 127,337,844 (GRCm39) |
I405N |
possibly damaging |
Het |
| Meltf |
C |
A |
16: 31,709,596 (GRCm39) |
Y432* |
probably null |
Het |
| Mst1r |
C |
A |
9: 107,790,352 (GRCm39) |
T655K |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,093,308 (GRCm39) |
P133L |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or52r1c |
A |
T |
7: 102,735,405 (GRCm39) |
M222L |
probably benign |
Het |
| Or5b102 |
A |
T |
19: 13,041,552 (GRCm39) |
Q259L |
probably benign |
Het |
| Or6a2 |
A |
G |
7: 106,600,561 (GRCm39) |
S169P |
possibly damaging |
Het |
| Pfkl |
A |
T |
10: 77,835,967 (GRCm39) |
|
probably null |
Het |
| Plekhb2 |
T |
C |
1: 34,916,073 (GRCm39) |
M204T |
probably damaging |
Het |
| Ptp4a2 |
G |
A |
4: 129,738,986 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
G |
16: 23,431,704 (GRCm39) |
T79A |
probably benign |
Het |
| Senp3 |
T |
C |
11: 69,568,815 (GRCm39) |
D410G |
probably benign |
Het |
| Slc16a5 |
T |
C |
11: 115,360,176 (GRCm39) |
F120L |
possibly damaging |
Het |
| Snrpe |
T |
C |
1: 133,536,669 (GRCm39) |
E37G |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,463,875 (GRCm39) |
T192A |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,668,960 (GRCm39) |
H742L |
possibly damaging |
Het |
| Syt12 |
T |
C |
19: 4,497,858 (GRCm39) |
S375G |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,657 (GRCm39) |
L265P |
probably benign |
Het |
| Tcp10a |
T |
A |
17: 7,597,318 (GRCm39) |
D158E |
probably damaging |
Het |
| Tesk2 |
A |
T |
4: 116,629,017 (GRCm39) |
H122L |
probably damaging |
Het |
| Tut7 |
T |
G |
13: 59,959,335 (GRCm39) |
N378H |
probably damaging |
Het |
| Unc93b1 |
T |
A |
19: 3,998,686 (GRCm39) |
M535K |
probably damaging |
Het |
| Vangl1 |
C |
A |
3: 102,091,347 (GRCm39) |
R246S |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,519,059 (GRCm39) |
T166I |
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 |
|
IGL01382:Zmiz2
|
APN |
11 |
6,353,781 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-12-18 |
Incidental Mutation