Incidental Mutation 'R2398:Pias3'
| ID |
248586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pias3
|
| Ensembl Gene |
ENSMUSG00000028101 |
| Gene Name |
protein inhibitor of activated STAT 3 |
| Synonyms |
Pias3L |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96603700-96613386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96611129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 443
(I443V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029742]
[ENSMUST00000064900]
[ENSMUST00000107076]
[ENSMUST00000107077]
[ENSMUST00000176302]
[ENSMUST00000171249]
[ENSMUST00000200387]
[ENSMUST00000162934]
[ENSMUST00000162778]
|
| AlphaFold |
O54714 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029742
|
| SMART Domains |
Protein: ENSMUSP00000029742
Gene: ENSMUSG00000028100
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:NUDIX
|
92 |
252 |
2.2e-9 |
PFAM |
|
low complexity region
|
273 |
288 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064900
AA Change: I452V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: I452V
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
11 |
45 |
3.75e-5 |
SMART |
|
low complexity region
|
70 |
109 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
126 |
278 |
1.1e-38 |
PFAM |
|
Pfam:zf-MIZ
|
323 |
372 |
1.7e-22 |
PFAM |
|
low complexity region
|
608 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107076
AA Change: I443V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: I443V
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
2 |
36 |
3.75e-5 |
SMART |
|
low complexity region
|
61 |
100 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
113 |
269 |
1.1e-45 |
PFAM |
|
Pfam:zf-Nse
|
305 |
361 |
8e-7 |
PFAM |
|
Pfam:zf-MIZ
|
314 |
363 |
2.2e-21 |
PFAM |
|
low complexity region
|
599 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107077
AA Change: I417V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: I417V
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
11 |
45 |
3.75e-5 |
SMART |
|
Pfam:PINIT
|
87 |
243 |
5.3e-46 |
PFAM |
|
Pfam:zf-Nse
|
279 |
335 |
2.4e-7 |
PFAM |
|
Pfam:zf-MIZ
|
288 |
337 |
7.4e-22 |
PFAM |
|
low complexity region
|
573 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161296
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176302
|
| SMART Domains |
Protein: ENSMUSP00000134835
Gene: ENSMUSG00000028101
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
2 |
36 |
2.57e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171249
|
| SMART Domains |
Protein: ENSMUSP00000129851
Gene: ENSMUSG00000028100
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:NUDIX
|
92 |
235 |
1.2e-18 |
PFAM |
|
low complexity region
|
256 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200387
|
| SMART Domains |
Protein: ENSMUSP00000142879
Gene: ENSMUSG00000028100
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:NUDIX
|
79 |
125 |
4.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162934
|
| SMART Domains |
Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
2 |
36 |
3.75e-5 |
SMART |
|
low complexity region
|
61 |
100 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
113 |
269 |
1.3e-46 |
PFAM |
|
Pfam:zf-Nse
|
305 |
361 |
7e-8 |
PFAM |
|
Pfam:zf-MIZ
|
314 |
363 |
2.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162778
|
| SMART Domains |
Protein: ENSMUSP00000125377
Gene: ENSMUSG00000028101
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
2 |
36 |
3.75e-5 |
SMART |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0637 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Double KO mice display a retinal phenotype reduced M-cone response at P21 and reduced S-cone and rod responses from 7 months. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Gzmc |
T |
A |
14: 56,470,228 (GRCm39) |
I90F |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Pias3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Pias3
|
APN |
3 |
96,606,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL01370:Pias3
|
APN |
3 |
96,610,891 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01806:Pias3
|
APN |
3 |
96,611,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02533:Pias3
|
APN |
3 |
96,606,932 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02998:Pias3
|
APN |
3 |
96,609,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03304:Pias3
|
APN |
3 |
96,607,347 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0764:Pias3
|
UTSW |
3 |
96,608,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Pias3
|
UTSW |
3 |
96,607,013 (GRCm39) |
splice site |
probably null |
|
|
R1697:Pias3
|
UTSW |
3 |
96,609,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Pias3
|
UTSW |
3 |
96,608,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Pias3
|
UTSW |
3 |
96,608,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Pias3
|
UTSW |
3 |
96,609,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2257:Pias3
|
UTSW |
3 |
96,606,962 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2851:Pias3
|
UTSW |
3 |
96,610,853 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3845:Pias3
|
UTSW |
3 |
96,609,526 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4127:Pias3
|
UTSW |
3 |
96,606,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4500:Pias3
|
UTSW |
3 |
96,608,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Pias3
|
UTSW |
3 |
96,607,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Pias3
|
UTSW |
3 |
96,611,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5108:Pias3
|
UTSW |
3 |
96,612,253 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5477:Pias3
|
UTSW |
3 |
96,612,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5498:Pias3
|
UTSW |
3 |
96,609,504 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6457:Pias3
|
UTSW |
3 |
96,606,839 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6966:Pias3
|
UTSW |
3 |
96,609,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7235:Pias3
|
UTSW |
3 |
96,611,679 (GRCm39) |
missense |
probably benign |
|
|
R7538:Pias3
|
UTSW |
3 |
96,609,534 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7552:Pias3
|
UTSW |
3 |
96,608,701 (GRCm39) |
frame shift |
probably null |
|
|
R8791:Pias3
|
UTSW |
3 |
96,612,201 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8815:Pias3
|
UTSW |
3 |
96,607,381 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9197:Pias3
|
UTSW |
3 |
96,611,064 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9565:Pias3
|
UTSW |
3 |
96,610,867 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9798:Pias3
|
UTSW |
3 |
96,606,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGGCATCAGAGGTTTGC -3'
(R):5'- AAGGCAGGTGGGTACTCATG -3'
Sequencing Primer
(F):5'- GACAGCCTTCTTAACCACC -3'
(R):5'- TACTCATGTAGCGGGAGACTAGAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation