Incidental Mutation 'IGL01720:Stat3'
| ID |
105050 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stat3
|
| Ensembl Gene |
ENSMUSG00000004040 |
| Gene Name |
signal transducer and activator of transcription 3 |
| Synonyms |
1110034C02Rik, Aprf |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01720
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100777632-100830447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100794484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 275
(H275R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092671]
[ENSMUST00000103114]
[ENSMUST00000127638]
[ENSMUST00000138438]
|
| AlphaFold |
P42227 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092671
AA Change: H301R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040
AA Change: H301R
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
3.03e-60 |
SMART |
|
Pfam:STAT_alpha
|
138 |
319 |
2.2e-62 |
PFAM |
|
Pfam:STAT_bind
|
321 |
574 |
1.8e-130 |
PFAM |
|
SH2
|
582 |
663 |
2.84e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103114
AA Change: H301R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040
AA Change: H301R
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
3.03e-60 |
SMART |
|
Pfam:STAT_alpha
|
138 |
319 |
7.2e-62 |
PFAM |
|
Pfam:STAT_bind
|
321 |
574 |
5.7e-130 |
PFAM |
|
SH2
|
582 |
663 |
2.84e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127638
AA Change: H301R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040
AA Change: H301R
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
3.03e-60 |
SMART |
|
Pfam:STAT_alpha
|
141 |
319 |
6.8e-59 |
PFAM |
|
Pfam:STAT_bind
|
321 |
573 |
2.5e-80 |
PFAM |
|
SH2
|
582 |
663 |
2.84e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130686
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138438
AA Change: H275R
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040
AA Change: H275R
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
123 |
5.47e-35 |
SMART |
|
coiled coil region
|
171 |
195 |
N/A |
INTRINSIC |
|
coiled coil region
|
243 |
265 |
N/A |
INTRINSIC |
|
Pfam:STAT_bind
|
295 |
548 |
9.2e-131 |
PFAM |
|
SH2
|
556 |
637 |
2.84e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156645
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 6.5-7.5. Conditional, tissue specific mutants are variably viable and show diverse defects including obesity, diabetes, thermal dysregulation and infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,333 (GRCm39) |
S1796P |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,658,382 (GRCm39) |
I2131F |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,938,847 (GRCm39) |
D833E |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,193,284 (GRCm39) |
S202P |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,414,583 (GRCm39) |
E178G |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,383,412 (GRCm39) |
Y2636C |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,312,155 (GRCm39) |
|
probably null |
Het |
| Cldn20 |
A |
G |
17: 3,583,375 (GRCm39) |
T183A |
probably benign |
Het |
| Cpne8 |
C |
T |
15: 90,385,703 (GRCm39) |
V442I |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,504,701 (GRCm39) |
M39K |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,487 (GRCm39) |
L124Q |
probably damaging |
Het |
| Duxf4 |
A |
C |
10: 58,072,211 (GRCm39) |
M1R |
probably null |
Het |
| Fam180a |
T |
C |
6: 35,290,500 (GRCm39) |
H161R |
probably benign |
Het |
| Galt |
C |
A |
4: 41,757,463 (GRCm39) |
R212S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,007 (GRCm39) |
D459G |
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,249,573 (GRCm39) |
|
probably null |
Het |
| Gm5709 |
A |
T |
3: 59,513,975 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
A |
G |
17: 12,920,200 (GRCm39) |
Y1380H |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,929,023 (GRCm39) |
G811D |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,020,412 (GRCm39) |
F52S |
probably damaging |
Het |
| Lrrc15 |
A |
T |
16: 30,092,138 (GRCm39) |
N400K |
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,410,621 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
C |
T |
14: 120,562,682 (GRCm39) |
T11I |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
| Mgat4a |
G |
A |
1: 37,483,979 (GRCm39) |
A497V |
probably damaging |
Het |
| Mrpl49 |
C |
A |
19: 6,105,187 (GRCm39) |
M91I |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,416 (GRCm39) |
D84E |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,794,527 (GRCm39) |
V41I |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,824,694 (GRCm39) |
T102A |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,410 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,210,628 (GRCm39) |
D393G |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,296,784 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,366 (GRCm39) |
C554S |
possibly damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,577,055 (GRCm39) |
|
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,885 (GRCm39) |
V86A |
possibly damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,589,092 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,376,132 (GRCm39) |
Y406C |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,622,653 (GRCm39) |
D702G |
probably benign |
Het |
| Susd5 |
T |
A |
9: 113,893,052 (GRCm39) |
N43K |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,186,228 (GRCm39) |
K124N |
probably damaging |
Het |
| Usp36 |
C |
A |
11: 118,165,828 (GRCm39) |
R165L |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,619,798 (GRCm39) |
R1492Q |
possibly damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,264 (GRCm39) |
V691A |
possibly damaging |
Het |
|
| Other mutations in Stat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02289:Stat3
|
APN |
11 |
100,796,720 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03183:Stat3
|
APN |
11 |
100,793,582 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Cunegonde
|
UTSW |
11 |
100,789,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
monostatos
|
UTSW |
11 |
100,785,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pangloss
|
UTSW |
11 |
100,784,496 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Stamatios
|
UTSW |
11 |
100,784,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Voltaire
|
UTSW |
11 |
100,802,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0143:Stat3
|
UTSW |
11 |
100,785,982 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0395:Stat3
|
UTSW |
11 |
100,780,763 (GRCm39) |
splice site |
probably benign |
|
|
R0487:Stat3
|
UTSW |
11 |
100,794,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Stat3
|
UTSW |
11 |
100,798,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0800:Stat3
|
UTSW |
11 |
100,784,981 (GRCm39) |
splice site |
probably benign |
|
|
R1393:Stat3
|
UTSW |
11 |
100,779,591 (GRCm39) |
splice site |
probably null |
|
|
R1927:Stat3
|
UTSW |
11 |
100,785,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3819:Stat3
|
UTSW |
11 |
100,789,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4037:Stat3
|
UTSW |
11 |
100,783,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4391:Stat3
|
UTSW |
11 |
100,796,378 (GRCm39) |
intron |
probably benign |
|
|
R4598:Stat3
|
UTSW |
11 |
100,794,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4637:Stat3
|
UTSW |
11 |
100,784,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Stat3
|
UTSW |
11 |
100,780,714 (GRCm39) |
unclassified |
probably benign |
|
|
R5909:Stat3
|
UTSW |
11 |
100,794,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5930:Stat3
|
UTSW |
11 |
100,784,496 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5944:Stat3
|
UTSW |
11 |
100,785,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6002:Stat3
|
UTSW |
11 |
100,794,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6431:Stat3
|
UTSW |
11 |
100,780,400 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6816:Stat3
|
UTSW |
11 |
100,802,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8071:Stat3
|
UTSW |
11 |
100,784,807 (GRCm39) |
missense |
probably benign |
|
|
R8466:Stat3
|
UTSW |
11 |
100,785,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9146:Stat3
|
UTSW |
11 |
100,784,492 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9337:Stat3
|
UTSW |
11 |
100,798,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9419:Stat3
|
UTSW |
11 |
100,784,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9419:Stat3
|
UTSW |
11 |
100,780,357 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9564:Stat3
|
UTSW |
11 |
100,784,614 (GRCm39) |
missense |
probably benign |
|
|
R9682:Stat3
|
UTSW |
11 |
100,785,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0033:Stat3
|
UTSW |
11 |
100,783,918 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Stat3
|
UTSW |
11 |
100,802,104 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2014-01-21 |
Incidental Mutation