Incidental Mutation 'R1692:Zmiz2'
| ID |
191879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmiz2
|
| Ensembl Gene |
ENSMUSG00000041164 |
| Gene Name |
zinc finger, MIZ-type containing 2 |
| Synonyms |
Zimp7, D11Bwg0280e, 2410117E06Rik |
| MMRRC Submission |
039725-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1692 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6339074-6356158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6350795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 515
(V515E)
|
| 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: V541E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: V541E
| 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: V509E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: V509E
| 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: V515E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: V515E
| 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: V541E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: V541E
| 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: V541E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: V541E
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,489,673 (GRCm39) |
*582R |
probably null |
Het |
| Agfg2 |
A |
G |
5: 137,662,633 (GRCm39) |
Y145H |
probably damaging |
Het |
| Aldh1a1 |
C |
T |
19: 20,608,182 (GRCm39) |
P335S |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,463,018 (GRCm39) |
R732G |
possibly damaging |
Het |
| Ankef1 |
A |
T |
2: 136,392,346 (GRCm39) |
I512F |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,999 (GRCm39) |
D17E |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,602,297 (GRCm39) |
|
probably null |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,157 (GRCm39) |
E111G |
probably benign |
Het |
| Cd79a |
T |
A |
7: 24,600,881 (GRCm39) |
M192K |
probably damaging |
Het |
| Clcn1 |
T |
G |
6: 42,290,032 (GRCm39) |
F822L |
possibly damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,199 (GRCm39) |
Y346C |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,407,594 (GRCm39) |
I918T |
probably benign |
Het |
| Fbxw20 |
G |
T |
9: 109,050,777 (GRCm39) |
T377K |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,293,692 (GRCm39) |
I462V |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,266,553 (GRCm39) |
N251S |
probably benign |
Het |
| Gpx1 |
A |
G |
9: 108,216,674 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,340,856 (GRCm39) |
V4443A |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,807 (GRCm39) |
I17K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,811,793 (GRCm39) |
S927G |
probably null |
Het |
| Map7d1 |
G |
A |
4: 126,136,101 (GRCm39) |
P36S |
probably damaging |
Het |
| Mfsd13a |
C |
A |
19: 46,360,515 (GRCm39) |
H356N |
probably benign |
Het |
| Mtap |
C |
T |
4: 89,095,151 (GRCm39) |
R268C |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,555,203 (GRCm39) |
|
probably null |
Het |
| Myom3 |
T |
C |
4: 135,502,862 (GRCm39) |
L313P |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,569,298 (GRCm39) |
V1391E |
probably damaging |
Het |
| Otoa |
A |
C |
7: 120,690,774 (GRCm39) |
Q3P |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,626,717 (GRCm39) |
E576G |
probably damaging |
Het |
| Pigw |
A |
C |
11: 84,767,892 (GRCm39) |
L479R |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,971,041 (GRCm39) |
I507T |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,123 (GRCm39) |
I157N |
probably benign |
Het |
| Rrm2b |
G |
A |
15: 37,927,566 (GRCm39) |
R115* |
probably null |
Het |
| Sall1 |
C |
T |
8: 89,755,028 (GRCm39) |
S1317N |
probably benign |
Het |
| Serpinb6b |
T |
G |
13: 33,158,978 (GRCm39) |
F179V |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,698,454 (GRCm39) |
F648I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,588,754 (GRCm39) |
T298A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,550,171 (GRCm39) |
L830P |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,003,072 (GRCm39) |
N387K |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,326 (GRCm39) |
T486I |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,921,260 (GRCm39) |
P599S |
probably damaging |
Het |
| Tmem33 |
A |
G |
5: 67,425,897 (GRCm39) |
D38G |
probably null |
Het |
| Uvrag |
C |
T |
7: 98,653,870 (GRCm39) |
R247Q |
probably benign |
Het |
| Vars1 |
T |
C |
17: 35,232,701 (GRCm39) |
V875A |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,074,250 (GRCm39) |
E879G |
probably damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,871 (GRCm39) |
V15I |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,593 (GRCm39) |
T20A |
probably damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,299 (GRCm39) |
H445Q |
probably damaging |
Het |
| Zmym5 |
G |
A |
14: 57,041,650 (GRCm39) |
T151M |
probably damaging |
Het |
| Zxdc |
C |
T |
6: 90,355,933 (GRCm39) |
Q481* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGCCCCTGCCTATGTGTCAGC -3'
(R):5'- TGTCACTGCTCAAGCAAAGGCTC -3'
Sequencing Primer
(F):5'- CTATGTGTCAGCACTCAGGAG -3'
(R):5'- CCCAGGGTTAGAACTAGCAGTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation