Incidental Mutation 'IGL02670:Pias4'
| ID |
302888 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pias4
|
| Ensembl Gene |
ENSMUSG00000004934 |
| Gene Name |
protein inhibitor of activated STAT 4 |
| Synonyms |
PIASy |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80989795-81003554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80999904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 50
(C50S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005064]
|
| AlphaFold |
Q9JM05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005064
AA Change: C50S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005064
Gene: ENSMUSG00000004934
AA Change: C50S
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
12 |
46 |
4.44e-7 |
SMART |
|
Pfam:PINIT
|
123 |
270 |
9.6e-35 |
PFAM |
|
Pfam:zf-MIZ
|
315 |
364 |
2.4e-24 |
PFAM |
|
low complexity region
|
429 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129549
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146764
AA Change: C50S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122183
Gene: ENSMUSG00000004934
AA Change: C50S
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
12 |
46 |
4.44e-7 |
SMART |
|
Pfam:PINIT
|
119 |
270 |
1.8e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mutants display mild postnatal lethality or a normal phenotype depending on strain background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,321,174 (GRCm39) |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
| Other mutations in Pias4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Pias4
|
APN |
10 |
80,991,492 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01790:Pias4
|
APN |
10 |
80,993,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02553:Pias4
|
APN |
10 |
80,999,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Pias4
|
UTSW |
10 |
81,000,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Pias4
|
UTSW |
10 |
80,992,921 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0711:Pias4
|
UTSW |
10 |
80,993,364 (GRCm39) |
unclassified |
probably benign |
|
|
R1399:Pias4
|
UTSW |
10 |
80,991,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Pias4
|
UTSW |
10 |
80,991,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Pias4
|
UTSW |
10 |
80,990,197 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3730:Pias4
|
UTSW |
10 |
80,999,888 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4764:Pias4
|
UTSW |
10 |
80,999,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4790:Pias4
|
UTSW |
10 |
80,993,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4808:Pias4
|
UTSW |
10 |
80,991,674 (GRCm39) |
splice site |
probably null |
|
|
R6351:Pias4
|
UTSW |
10 |
80,993,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Pias4
|
UTSW |
10 |
80,993,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Pias4
|
UTSW |
10 |
80,990,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7260:Pias4
|
UTSW |
10 |
80,993,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7487:Pias4
|
UTSW |
10 |
80,999,806 (GRCm39) |
missense |
probably benign |
|
|
R7609:Pias4
|
UTSW |
10 |
80,993,860 (GRCm39) |
splice site |
probably null |
|
|
R8224:Pias4
|
UTSW |
10 |
81,003,565 (GRCm39) |
start gained |
probably benign |
|
|
R8387:Pias4
|
UTSW |
10 |
80,990,342 (GRCm39) |
missense |
probably benign |
|
|
R8443:Pias4
|
UTSW |
10 |
80,992,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8794:Pias4
|
UTSW |
10 |
80,999,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9319:Pias4
|
UTSW |
10 |
80,991,750 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation