Incidental Mutation 'IGL03119:Stat2'
ID 409899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stat2
Ensembl Gene ENSMUSG00000040033
Gene Name signal transducer and activator of transcription 2
Synonyms 1600010G07Rik
Accession Numbers

Genbank: NM_019963.1; Ensembl: ENSMUST00000085708

Is this an essential gene? Possibly non essential (E-score: 0.395) question?
Stock # IGL03119
Quality Score
Status
Chromosome 10
Chromosomal Location 128270559-128292849 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128283517 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 457 (M457V)
Ref Sequence ENSEMBL: ENSMUSP00000082855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085708] [ENSMUST00000105238]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000085708
AA Change: M457V

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: M457V

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 138 314 5e-52 PFAM
Pfam:STAT_bind 316 564 1.2e-96 PFAM
SH2 576 652 4.71e-6 SMART
internal_repeat_1 750 778 6.35e-10 PROSPERO
internal_repeat_1 822 850 6.35e-10 PROSPERO
Pfam:STAT2_C 853 907 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105238
AA Change: M458V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: M458V

DomainStartEndE-ValueType
STAT_int 2 124 4.49e-54 SMART
Pfam:STAT_alpha 141 314 2.6e-49 PFAM
Pfam:STAT_bind 316 564 1.5e-67 PFAM
SH2 577 653 4.71e-6 SMART
internal_repeat_1 751 779 6.69e-10 PROSPERO
internal_repeat_1 823 851 6.69e-10 PROSPERO
Pfam:STAT2_C 854 908 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220277
Coding Region Coverage
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. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Immune response is impaired in homozygous null mice. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4) Chemically induced(1)

Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 T626A probably benign Het
Adcy1 C T 11: 7,109,051 T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 C4742G probably benign Het
Arid5b A T 10: 68,243,227 D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 T121A probably benign Het
Atxn7 C T 14: 14,100,734 L807F probably damaging Het
Cep104 A C 4: 153,981,724 K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 E708G probably damaging Het
Dst A G 1: 34,161,062 Y107C probably damaging Het
E2f3 A G 13: 29,985,365 S102P probably benign Het
Eif3e A C 15: 43,265,604 S207A probably benign Het
Etl4 A G 2: 20,713,387 Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 V121A probably benign Het
Gstk1 T C 6: 42,249,899 S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 F244L probably null Het
Ints7 T C 1: 191,610,365 V491A probably damaging Het
Kcnd2 G T 6: 21,216,509 E71* probably null Het
Ltbp3 A T 19: 5,757,443 Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 T961A probably benign Het
Naa25 T A 5: 121,434,978 V720E probably null Het
Olfr1480 T C 19: 13,530,435 I298T probably benign Het
Olfr599 A G 7: 103,338,722 I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Peli1 T C 11: 21,140,560 probably benign Het
Ptbp1 T C 10: 79,859,624 V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 Y31C probably damaging Het
Smg1 G A 7: 118,195,113 probably benign Het
Trpm6 G T 19: 18,838,017 E1156* probably null Het
Usp53 T A 3: 122,961,415 R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 S193P probably benign Het
Xrn2 A G 2: 147,042,872 I626V probably damaging Het
Zfp574 G A 7: 25,080,473 A307T probably benign Het
Other mutations in Stat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Stat2 APN 10 128281176 missense probably benign 0.42
IGL02528:Stat2 APN 10 128290665 missense probably benign 0.07
IGL02859:Stat2 APN 10 128276611 missense probably damaging 1.00
numb UTSW 10 128281065 splice site probably null
1mM(1):Stat2 UTSW 10 128277723 missense probably benign 0.06
R0098:Stat2 UTSW 10 128283262 missense probably damaging 1.00
R0334:Stat2 UTSW 10 128277867 missense probably damaging 1.00
R0496:Stat2 UTSW 10 128276509 missense probably benign 0.04
R1478:Stat2 UTSW 10 128282100 critical splice acceptor site probably null
R2857:Stat2 UTSW 10 128276901 splice site probably null
R3698:Stat2 UTSW 10 128278793 missense probably benign 0.30
R3870:Stat2 UTSW 10 128277893 missense probably benign 0.17
R5231:Stat2 UTSW 10 128281242 critical splice donor site probably null
R5235:Stat2 UTSW 10 128291032 critical splice donor site probably null
R5264:Stat2 UTSW 10 128281065 splice site probably null
R5855:Stat2 UTSW 10 128283494 missense probably damaging 1.00
R6752:Stat2 UTSW 10 128283753 missense probably damaging 1.00
R7459:Stat2 UTSW 10 128276565 missense possibly damaging 0.95
R7467:Stat2 UTSW 10 128277903 splice site probably null
R7599:Stat2 UTSW 10 128277197 missense possibly damaging 0.45
R7756:Stat2 UTSW 10 128290728 small deletion probably benign
R7814:Stat2 UTSW 10 128290728 small deletion probably benign
R7992:Stat2 UTSW 10 128284962 missense probably damaging 1.00
R8335:Stat2 UTSW 10 128276583 missense possibly damaging 0.77
R8825:Stat2 UTSW 10 128291364 missense possibly damaging 0.70
R9052:Stat2 UTSW 10 128281669 missense probably damaging 1.00
R9104:Stat2 UTSW 10 128281242 critical splice donor site probably null
R9244:Stat2 UTSW 10 128282765 missense possibly damaging 0.93
R9405:Stat2 UTSW 10 128278765 missense probably damaging 0.99
R9433:Stat2 UTSW 10 128276788 missense probably benign 0.01
Posted On 2016-08-02