Incidental Mutation 'RF060:Stat1'
| ID |
605364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat1
|
| Ensembl Gene |
ENSMUSG00000026104 |
| Gene Name |
signal transducer and activator of transcription 1 |
| Synonyms |
2010005J02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52158599-52201024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 52191419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 591
(E591D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141132
(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 benign
Transcript: ENSMUST00000070968
AA Change: E585D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: E585D
| 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 |
probably benign
Transcript: ENSMUST00000186057
AA Change: E591D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: E591D
| 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
AA Change: E585D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
AA Change: E585D
| 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: ENSMUST00000186857
AA Change: E585D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: E585D
| 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 |
probably benign
Transcript: ENSMUST00000189244
AA Change: E79D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140482
Gene: ENSMUSG00000026104
AA Change: E79D
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189347
AA Change: E585D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
AA Change: E585D
| 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: ENSMUST00000191435
AA Change: E585D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
AA Change: E585D
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTG |
GCTGTGGCTTCTG |
1: 82,891,308 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
CTGTGGCTG |
CTGTGGCTGATGTGGCTG |
1: 82,891,300 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
G |
GTGGCGC |
18: 36,693,975 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGCAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
ATTTATTTAT |
ATTTATTTATTTCTTTATTTAT |
9: 78,619,807 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGTT |
CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT |
9: 20,821,438 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GC |
GCCGCAAC |
2: 83,643,221 (GRCm39) |
|
probably benign |
Het |
| Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TTC |
TTCCTC |
X: 74,043,619 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGA |
GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA |
7: 44,149,957 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC |
4: 59,610,608 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
TGTAGT |
TGT |
6: 130,252,784 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA |
GAGGAGGA |
4: 98,625,031 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,438 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC |
2: 121,136,799 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCC |
GACTTGGCCCCACCTGGGTACTTGGCC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CT |
CTGGGCTTCACCTGGGGATT |
11: 4,891,052 (GRCm39) |
|
probably benign |
Het |
| Pdk1 |
CTGGCCT |
C |
2: 71,703,789 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
GC |
GCGGCGCC |
4: 124,551,602 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
TCTCTCTCTCTCTCTCC |
10: 84,694,358 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
CTCGCT |
CTCGCTGTCGCT |
4: 34,049,841 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CAG |
CAGCGATCCTCCCCAGTCCCGCAAGGCAAG |
5: 77,164,274 (GRCm39) |
|
probably benign |
Het |
| St3gal5 |
G |
GCACTC |
6: 72,074,836 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGTAG |
18: 60,968,816 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
C |
CAGT |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
TTTGTTT |
TTTGTTTGCTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
G |
GAAACAGCAA |
8: 109,682,720 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
X0027:Stat1
|
UTSW |
1 |
52,178,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCGGTGTTCATCCTGATTC -3'
(R):5'- TCCTCAGCGACAGATTACAGAC -3'
Sequencing Primer
(F):5'- GAGATGCTCCCTTTAAGTGCCAG -3'
(R):5'- CTCAGCGACAGATTACAGACATGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation