Incidental Mutation 'R5107:Pias1'
| ID |
393611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pias1
|
| Ensembl Gene |
ENSMUSG00000032405 |
| Gene Name |
protein inhibitor of activated STAT 1 |
| Synonyms |
2900068C24Rik, Ddxbp1, GBP |
| MMRRC Submission |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
62785648-62888161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62789510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 566
(A566S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098651]
[ENSMUST00000214830]
|
| AlphaFold |
O88907 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098651
AA Change: A566S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: A566S
| 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 benign
Transcript: ENSMUST00000214830
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215501
|
| Meta Mutation Damage Score |
0.1427 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,472 (GRCm39) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,708,977 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 31,049,822 (GRCm39) |
P257Q |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,615 (GRCm39) |
M130L |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,198 (GRCm39) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 26,006,454 (GRCm39) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,215,821 (GRCm39) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,913,057 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,608,914 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,302 (GRCm39) |
Y93H |
probably damaging |
Het |
| Isl2 |
T |
C |
9: 55,449,570 (GRCm39) |
V82A |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,340 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,831,226 (GRCm39) |
M225K |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,827,673 (GRCm39) |
V484A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,086 (GRCm39) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,867,533 (GRCm39) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,795,901 (GRCm39) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,409,268 (GRCm39) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,223,881 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,027,218 (GRCm39) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,702,280 (GRCm39) |
T58A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,144 (GRCm39) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,893 (GRCm39) |
V559E |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,870,566 (GRCm39) |
S161P |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,612,623 (GRCm39) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,049,237 (GRCm39) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,135,062 (GRCm39) |
|
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,989 (GRCm39) |
N755S |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,912 (GRCm39) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,487,616 (GRCm39) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,305,075 (GRCm39) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,627,572 (GRCm39) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,331,632 (GRCm39) |
Y600H |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,907,976 (GRCm39) |
I189S |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,752 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,036,733 (GRCm39) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,354,842 (GRCm39) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,638,156 (GRCm39) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,305,705 (GRCm39) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,608,496 (GRCm39) |
I16063T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,693,905 (GRCm39) |
V321A |
possibly damaging |
Het |
| Ubox5 |
A |
G |
2: 130,441,688 (GRCm39) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,286,602 (GRCm39) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,166,364 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,054 (GRCm39) |
D765G |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,342,205 (GRCm39) |
G1482V |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,015,682 (GRCm39) |
V2A |
probably benign |
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 |
|
|
R0524:Pias1
|
UTSW |
9 |
62,859,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCAGACTGTTGGAAGACACAAG -3'
(R):5'- AGGGCTAAGAACTGCATGC -3'
Sequencing Primer
(F):5'- AGACACAAGGCTGCTGTTGC -3'
(R):5'- ATGTCATTCCAGTCTCAGATACCATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation