Incidental Mutation 'R0577:Pias2'
| ID |
56279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pias2
|
| Ensembl Gene |
ENSMUSG00000025423 |
| Gene Name |
protein inhibitor of activated STAT 2 |
| Synonyms |
PIASxb, PIASxalpha, PIASxbeta, ARIP3, Miz1, 6330408K17Rik, Dib |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77152904-77241496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77184977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 12
(L12F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114776]
[ENSMUST00000114777]
[ENSMUST00000168882]
|
| AlphaFold |
Q8C5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114776
AA Change: L12F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: L12F
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
4 |
38 |
2.01e-5 |
SMART |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
134 |
290 |
7e-45 |
PFAM |
|
Pfam:zf-MIZ
|
335 |
384 |
4.9e-24 |
PFAM |
|
low complexity region
|
468 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114777
AA Change: L19F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: L19F
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
11 |
45 |
2.01e-5 |
SMART |
|
low complexity region
|
102 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
144 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
145 |
297 |
4.8e-38 |
PFAM |
|
Pfam:zf-MIZ
|
342 |
391 |
1.7e-24 |
PFAM |
|
low complexity region
|
475 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
610 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168882
AA Change: L12F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: L12F
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
4 |
38 |
2.01e-5 |
SMART |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
Pfam:PINIT
|
134 |
290 |
2.3e-44 |
PFAM |
|
Pfam:zf-MIZ
|
335 |
384 |
2.6e-23 |
PFAM |
|
low complexity region
|
468 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
603 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| 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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype although abnormalities are reported in the testes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
| Other mutations in Pias2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Pias2
|
APN |
18 |
77,220,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01105:Pias2
|
APN |
18 |
77,220,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Pias2
|
APN |
18 |
77,232,844 (GRCm39) |
splice site |
probably benign |
|
|
IGL02932:Pias2
|
APN |
18 |
77,232,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03181:Pias2
|
APN |
18 |
77,220,938 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03389:Pias2
|
APN |
18 |
77,185,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03138:Pias2
|
UTSW |
18 |
77,237,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0492:Pias2
|
UTSW |
18 |
77,193,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Pias2
|
UTSW |
18 |
77,207,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Pias2
|
UTSW |
18 |
77,240,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1901:Pias2
|
UTSW |
18 |
77,185,139 (GRCm39) |
nonsense |
probably null |
|
|
R1996:Pias2
|
UTSW |
18 |
77,216,759 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2107:Pias2
|
UTSW |
18 |
77,185,167 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4439:Pias2
|
UTSW |
18 |
77,185,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Pias2
|
UTSW |
18 |
77,217,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4747:Pias2
|
UTSW |
18 |
77,240,488 (GRCm39) |
makesense |
probably null |
|
|
R4816:Pias2
|
UTSW |
18 |
77,193,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5697:Pias2
|
UTSW |
18 |
77,220,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Pias2
|
UTSW |
18 |
77,184,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6375:Pias2
|
UTSW |
18 |
77,240,366 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6545:Pias2
|
UTSW |
18 |
77,217,781 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6713:Pias2
|
UTSW |
18 |
77,153,416 (GRCm39) |
splice site |
probably null |
|
|
R7193:Pias2
|
UTSW |
18 |
77,207,817 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7232:Pias2
|
UTSW |
18 |
77,220,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7253:Pias2
|
UTSW |
18 |
77,207,811 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7259:Pias2
|
UTSW |
18 |
77,240,416 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8018:Pias2
|
UTSW |
18 |
77,216,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8534:Pias2
|
UTSW |
18 |
77,185,083 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8879:Pias2
|
UTSW |
18 |
77,234,464 (GRCm39) |
nonsense |
probably null |
|
|
R9215:Pias2
|
UTSW |
18 |
77,216,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Pias2
|
UTSW |
18 |
77,232,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTTAGATCACAGGTAGAGTTGGA -3'
(R):5'- AGTGTCTTGCAGCAGTACAGAACC -3'
Sequencing Primer
(F):5'- TTCCAAGAGGAGATAGCTTCTG -3'
(R):5'- TGATGAGCTACCATCCAAGCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation