Incidental Mutation 'R0524:Pias1'
| ID |
48787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pias1
|
| Ensembl Gene |
ENSMUSG00000032405 |
| Gene Name |
protein inhibitor of activated STAT 1 |
| Synonyms |
2900068C24Rik, Ddxbp1, GBP |
| MMRRC Submission |
038717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0524 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
62785648-62888161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62859460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 16
(V16A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098651]
[ENSMUST00000214830]
[ENSMUST00000216209]
|
| AlphaFold |
O88907 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098651
AA Change: V16A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: V16A
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
11 |
45 |
5.3e-5 |
SMART |
|
low complexity region
|
82 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
135 |
286 |
9.6e-41 |
PFAM |
|
Pfam:zf-MIZ
|
331 |
380 |
1.4e-23 |
PFAM |
|
low complexity region
|
465 |
474 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214830
AA Change: V16A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215455
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216209
AA Change: V7A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.5460 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| 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 protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial perinatal lethality, reduced body size, decreased susceptibility to viral infection, and increased susceptibility to bacterial infection and LPS-induced endotoxin shock. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,574,624 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,013 (GRCm39) |
E216G |
probably benign |
Het |
| Aoc3 |
C |
A |
11: 101,228,337 (GRCm39) |
P715T |
probably damaging |
Het |
| Bnipl |
T |
C |
3: 95,157,140 (GRCm39) |
D33G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,308,903 (GRCm39) |
H1701R |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,531,082 (GRCm39) |
H756L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,675,154 (GRCm39) |
W159R |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,749,574 (GRCm39) |
I252N |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,317 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Fam111a |
T |
A |
19: 12,565,412 (GRCm39) |
I431K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,334,133 (GRCm39) |
D1020E |
probably benign |
Het |
| Flii |
A |
G |
11: 60,610,887 (GRCm39) |
V514A |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,283,774 (GRCm39) |
D865G |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,256,902 (GRCm39) |
V157M |
probably damaging |
Het |
| Gsr |
G |
A |
8: 34,159,208 (GRCm39) |
|
probably null |
Het |
| H1f11-ps |
T |
A |
19: 47,158,933 (GRCm39) |
K214M |
unknown |
Het |
| Hps3 |
A |
T |
3: 20,066,940 (GRCm39) |
V542E |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,234,270 (GRCm39) |
I15T |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,466,550 (GRCm39) |
R578G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,361,571 (GRCm39) |
R676G |
possibly damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,692,302 (GRCm39) |
F94S |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,146,477 (GRCm39) |
V103M |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,474 (GRCm39) |
W69R |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,190,605 (GRCm39) |
Q1130K |
possibly damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,384 (GRCm39) |
S150P |
probably damaging |
Het |
| Or2g1 |
A |
T |
17: 38,106,496 (GRCm39) |
K54* |
probably null |
Het |
| Or5b116 |
A |
G |
19: 13,423,228 (GRCm39) |
N284S |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,238,556 (GRCm39) |
W1310R |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,091 (GRCm39) |
Q408R |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,488 (GRCm39) |
I700V |
probably benign |
Het |
| Pnpla8 |
C |
T |
12: 44,330,401 (GRCm39) |
Q318* |
probably null |
Het |
| Ppp1cc |
C |
T |
5: 122,310,833 (GRCm39) |
R142* |
probably null |
Het |
| Pygl |
T |
A |
12: 70,254,498 (GRCm39) |
N149I |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,581,110 (GRCm39) |
S1285T |
probably benign |
Het |
| Rdh13 |
A |
C |
7: 4,447,296 (GRCm39) |
C10W |
probably damaging |
Het |
| Rgr |
A |
T |
14: 36,760,252 (GRCm39) |
C273S |
probably benign |
Het |
| Ripk4 |
G |
T |
16: 97,556,487 (GRCm39) |
Y22* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,222,215 (GRCm39) |
W302* |
probably null |
Het |
| Smarce1 |
G |
A |
11: 99,104,888 (GRCm39) |
T263M |
probably damaging |
Het |
| Sypl1 |
C |
T |
12: 33,017,564 (GRCm39) |
P94L |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,924 (GRCm39) |
I878T |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,792,937 (GRCm39) |
S87P |
probably damaging |
Het |
| Tmem260 |
A |
G |
14: 48,709,935 (GRCm39) |
T163A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,555,796 (GRCm39) |
Y30403C |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,927,904 (GRCm39) |
M468K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,081,717 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,719 (GRCm39) |
F243S |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,229,764 (GRCm39) |
Y45C |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,674,424 (GRCm39) |
D119G |
unknown |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pias1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Pias1
|
APN |
9 |
62,830,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01011:Pias1
|
APN |
9 |
62,820,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02412:Pias1
|
APN |
9 |
62,800,421 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02728:Pias1
|
APN |
9 |
62,830,927 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02728:Pias1
|
APN |
9 |
62,830,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
piety
|
UTSW |
9 |
62,788,427 (GRCm39) |
missense |
|
|
|
pope
|
UTSW |
9 |
62,859,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Pias1
|
UTSW |
9 |
62,800,400 (GRCm39) |
splice site |
probably benign |
|
|
R0494:Pias1
|
UTSW |
9 |
62,794,593 (GRCm39) |
nonsense |
probably null |
|
|
R0558:Pias1
|
UTSW |
9 |
62,789,291 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1279:Pias1
|
UTSW |
9 |
62,799,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1525:Pias1
|
UTSW |
9 |
62,827,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Pias1
|
UTSW |
9 |
62,859,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Pias1
|
UTSW |
9 |
62,820,112 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2201:Pias1
|
UTSW |
9 |
62,859,137 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4193:Pias1
|
UTSW |
9 |
62,859,286 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4726:Pias1
|
UTSW |
9 |
62,827,771 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4880:Pias1
|
UTSW |
9 |
62,820,080 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5107:Pias1
|
UTSW |
9 |
62,789,510 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5574:Pias1
|
UTSW |
9 |
62,827,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5634:Pias1
|
UTSW |
9 |
62,803,255 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5869:Pias1
|
UTSW |
9 |
62,820,048 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6518:Pias1
|
UTSW |
9 |
62,859,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6634:Pias1
|
UTSW |
9 |
62,826,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Pias1
|
UTSW |
9 |
62,799,451 (GRCm39) |
missense |
probably benign |
|
|
R6799:Pias1
|
UTSW |
9 |
62,789,334 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7099:Pias1
|
UTSW |
9 |
62,788,427 (GRCm39) |
missense |
|
|
|
R8350:Pias1
|
UTSW |
9 |
62,859,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8361:Pias1
|
UTSW |
9 |
62,826,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8510:Pias1
|
UTSW |
9 |
62,830,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Pias1
|
UTSW |
9 |
62,888,164 (GRCm39) |
intron |
probably benign |
|
|
X0017:Pias1
|
UTSW |
9 |
62,888,127 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Pias1
|
UTSW |
9 |
62,820,105 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTCTGAGGGAACCGCCTCCTG -3'
(R):5'- AAAGCGAGATGTGGTCCTGCATAG -3'
Sequencing Primer
(F):5'- GGAACCGCCTCCTGTAGAG -3'
(R):5'- TGGTCCTGCATAGTGTAAGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation