Incidental Mutation 'R1313:Stat1'
| ID |
157986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat1
|
| Ensembl Gene |
ENSMUSG00000026104 |
| Gene Name |
signal transducer and activator of transcription 1 |
| Synonyms |
2010005J02Rik |
| MMRRC Submission |
039379-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52158599-52201024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52195165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 720
(T720I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070968]
[ENSMUST00000186057]
[ENSMUST00000186574]
[ENSMUST00000186857]
[ENSMUST00000189244]
[ENSMUST00000189347]
[ENSMUST00000191435]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070968
AA Change: T720I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: T720I
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
2.5e-61 |
SMART |
|
Pfam:STAT_alpha
|
139 |
315 |
1.4e-56 |
PFAM |
|
Pfam:STAT_bind
|
317 |
566 |
4.2e-82 |
PFAM |
|
SH2
|
571 |
687 |
1.59e-1 |
SMART |
|
Pfam:STAT1_TAZ2bind
|
715 |
739 |
2.4e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185516
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186057
AA Change: T726I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: T726I
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
2.5e-61 |
SMART |
|
Pfam:STAT_alpha
|
136 |
315 |
3.4e-65 |
PFAM |
|
Pfam:STAT_bind
|
317 |
573 |
3.9e-118 |
PFAM |
|
SH2
|
577 |
693 |
1.59e-1 |
SMART |
|
Pfam:STAT1_TAZ2bind
|
721 |
745 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186574
|
| SMART Domains |
Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
1.9e-65 |
SMART |
|
Pfam:STAT_alpha
|
136 |
315 |
3.3e-62 |
PFAM |
|
Pfam:STAT_bind
|
317 |
567 |
1.1e-118 |
PFAM |
|
SH2
|
571 |
687 |
1e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186857
AA Change: T720I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: T720I
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
2.5e-61 |
SMART |
|
Pfam:STAT_alpha
|
136 |
315 |
1.2e-64 |
PFAM |
|
Pfam:STAT_bind
|
317 |
567 |
4.4e-121 |
PFAM |
|
SH2
|
571 |
687 |
1.59e-1 |
SMART |
|
Pfam:STAT1_TAZ2bind
|
715 |
739 |
3.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189075
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189244
AA Change: T214I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140482
Gene: ENSMUSG00000026104
AA Change: T214I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STAT_bind
|
13 |
61 |
2.6e-14 |
PFAM |
|
SH2
|
65 |
181 |
1.59e-1 |
SMART |
|
Pfam:STAT1_TAZ2bind
|
209 |
233 |
7.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189347
|
| SMART Domains |
Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
1.9e-65 |
SMART |
|
Pfam:STAT_alpha
|
136 |
315 |
3.3e-62 |
PFAM |
|
Pfam:STAT_bind
|
317 |
567 |
1.1e-118 |
PFAM |
|
SH2
|
571 |
687 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191435
|
| SMART Domains |
Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
| Domain | Start | End | E-Value | Type |
|---|
|
STAT_int
|
2 |
122 |
1.9e-65 |
SMART |
|
Pfam:STAT_alpha
|
136 |
315 |
3.3e-62 |
PFAM |
|
Pfam:STAT_bind
|
317 |
567 |
1.1e-118 |
PFAM |
|
SH2
|
571 |
687 |
1e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.4%
- 20x: 77.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle1 |
A |
G |
8: 71,859,857 (GRCm39) |
E145G |
possibly damaging |
Het |
| Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
| Clhc1 |
A |
G |
11: 29,521,678 (GRCm39) |
I404V |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,265,769 (GRCm39) |
E200G |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
| Lilrb4b |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
| Mocs1 |
A |
T |
17: 49,761,297 (GRCm39) |
T464S |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
| Psapl1 |
C |
A |
5: 36,362,610 (GRCm39) |
Q401K |
probably benign |
Het |
| Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
|
| Other mutations in Stat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Stat1
|
APN |
1 |
52,161,754 (GRCm39) |
start codon destroyed |
probably null |
0.50 |
|
IGL01111:Stat1
|
APN |
1 |
52,182,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01451:Stat1
|
APN |
1 |
52,178,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01469:Stat1
|
APN |
1 |
52,186,529 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01758:Stat1
|
APN |
1 |
52,176,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01818:Stat1
|
APN |
1 |
52,190,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01913:Stat1
|
APN |
1 |
52,165,716 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01914:Stat1
|
APN |
1 |
52,165,716 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02304:Stat1
|
APN |
1 |
52,171,703 (GRCm39) |
missense |
probably benign |
|
|
IGL02428:Stat1
|
APN |
1 |
52,182,125 (GRCm39) |
splice site |
probably benign |
|
|
Accretion
|
UTSW |
1 |
52,174,780 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Aspect
|
UTSW |
1 |
52,190,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
baroque
|
UTSW |
1 |
52,183,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Compounding
|
UTSW |
1 |
52,190,440 (GRCm39) |
missense |
probably benign |
0.17 |
|
domino
|
UTSW |
1 |
52,179,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
h_moll
|
UTSW |
1 |
52,178,353 (GRCm39) |
nonsense |
probably null |
|
|
kun_ming
|
UTSW |
1 |
52,176,575 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
kuomintang
|
UTSW |
1 |
52,190,404 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
poison
|
UTSW |
1 |
52,190,384 (GRCm39) |
splice site |
probably benign |
|
|
roccoco
|
UTSW |
1 |
52,162,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rollo
|
UTSW |
1 |
52,193,082 (GRCm39) |
nonsense |
probably null |
|
|
Sedimentary
|
UTSW |
1 |
52,178,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
special
|
UTSW |
1 |
52,178,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
vandegraff
|
UTSW |
1 |
52,194,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0022:Stat1
|
UTSW |
1 |
52,179,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Stat1
|
UTSW |
1 |
52,179,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Stat1
|
UTSW |
1 |
52,179,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0458:Stat1
|
UTSW |
1 |
52,188,211 (GRCm39) |
splice site |
probably benign |
|
|
R1313:Stat1
|
UTSW |
1 |
52,195,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2998:Stat1
|
UTSW |
1 |
52,190,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4464:Stat1
|
UTSW |
1 |
52,176,575 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4709:Stat1
|
UTSW |
1 |
52,165,680 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4934:Stat1
|
UTSW |
1 |
52,193,082 (GRCm39) |
nonsense |
probably null |
|
|
R5038:Stat1
|
UTSW |
1 |
52,162,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Stat1
|
UTSW |
1 |
52,161,871 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5223:Stat1
|
UTSW |
1 |
52,183,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5600:Stat1
|
UTSW |
1 |
52,188,101 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5866:Stat1
|
UTSW |
1 |
52,178,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Stat1
|
UTSW |
1 |
52,190,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7192:Stat1
|
UTSW |
1 |
52,174,780 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7284:Stat1
|
UTSW |
1 |
52,188,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7309:Stat1
|
UTSW |
1 |
52,165,780 (GRCm39) |
splice site |
probably null |
|
|
R7491:Stat1
|
UTSW |
1 |
52,191,530 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7680:Stat1
|
UTSW |
1 |
52,183,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Stat1
|
UTSW |
1 |
52,190,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7915:Stat1
|
UTSW |
1 |
52,190,440 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8245:Stat1
|
UTSW |
1 |
52,194,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8309:Stat1
|
UTSW |
1 |
52,190,404 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8728:Stat1
|
UTSW |
1 |
52,178,353 (GRCm39) |
nonsense |
probably null |
|
|
R8952:Stat1
|
UTSW |
1 |
52,187,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9054:Stat1
|
UTSW |
1 |
52,182,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Stat1
|
UTSW |
1 |
52,178,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Stat1
|
UTSW |
1 |
52,184,337 (GRCm39) |
missense |
probably benign |
|
|
R9252:Stat1
|
UTSW |
1 |
52,174,831 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9337:Stat1
|
UTSW |
1 |
52,191,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9388:Stat1
|
UTSW |
1 |
52,193,037 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9530:Stat1
|
UTSW |
1 |
52,187,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9648:Stat1
|
UTSW |
1 |
52,165,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF036:Stat1
|
UTSW |
1 |
52,191,419 (GRCm39) |
missense |
probably benign |
|
|
RF060:Stat1
|
UTSW |
1 |
52,191,419 (GRCm39) |
missense |
probably benign |
|
|
X0027:Stat1
|
UTSW |
1 |
52,178,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAACATTAACCGTCCGTGAGC -3'
(R):5'- TCGTGTAGCCAATGTGACCGACAG -3'
Sequencing Primer
(F):5'- CGTCCGTGAGCTGTACTCTG -3'
(R):5'- ACGGGAAAATGTCTACCTCTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation