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
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # IGL03119
Quality Score
Status
Chromosome 10
Chromosomal Location 128106428-128128718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128119386 bp (GRCm39)
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: 8,764,887 (GRCm39) T626A probably benign Het
Adcy1 C T 11: 7,059,051 (GRCm39) T319I probably damaging Het
Adgrv1 A G 13: 81,530,492 (GRCm39) S5861P probably damaging Het
Adgrv1 A C 13: 81,581,819 (GRCm39) C4742G probably benign Het
Arid5b A T 10: 68,079,057 (GRCm39) D93E probably damaging Het
Atp6v1h A G 1: 5,165,892 (GRCm39) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 154,066,181 (GRCm39) K126N probably damaging Het
Dcaf6 T C 1: 165,167,545 (GRCm39) E708G probably damaging Het
Dst A G 1: 34,200,143 (GRCm39) Y107C probably damaging Het
E2f3 A G 13: 30,169,348 (GRCm39) S102P probably benign Het
Eif3e A C 15: 43,129,000 (GRCm39) S207A probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fyttd1 T C 16: 32,721,065 (GRCm39) V121A probably benign Het
Gstk1 T C 6: 42,226,833 (GRCm39) S200P probably damaging Het
Ifrd1 A T 12: 40,262,333 (GRCm39) F244L probably null Het
Ints7 T C 1: 191,342,477 (GRCm39) V491A probably damaging Het
Kcnd2 G T 6: 21,216,508 (GRCm39) E71* probably null Het
Ltbp3 A T 19: 5,807,471 (GRCm39) Q1123L probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Naa25 T A 5: 121,573,041 (GRCm39) V720E probably null Het
Or52ab4 A G 7: 102,987,929 (GRCm39) I223V probably damaging Het
Or5b121 T C 19: 13,507,799 (GRCm39) I298T probably benign Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Peli1 T C 11: 21,090,560 (GRCm39) probably benign Het
Ptbp1 T C 10: 79,695,458 (GRCm39) V209A probably damaging Het
Ranbp2 A G 10: 58,287,825 (GRCm39) Y31C probably damaging Het
Smg1 G A 7: 117,794,336 (GRCm39) probably benign Het
Trpm6 G T 19: 18,815,381 (GRCm39) E1156* probably null Het
Usp53 T A 3: 122,755,064 (GRCm39) R130S possibly damaging Het
Vwa5b1 A G 4: 138,333,852 (GRCm39) S193P probably benign Het
Xrn2 A G 2: 146,884,792 (GRCm39) I626V probably damaging Het
Zfp574 G A 7: 24,779,898 (GRCm39) A307T probably benign Het
Other mutations in Stat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Stat2 APN 10 128,117,045 (GRCm39) missense probably benign 0.42
IGL02528:Stat2 APN 10 128,126,534 (GRCm39) missense probably benign 0.07
IGL02859:Stat2 APN 10 128,112,480 (GRCm39) missense probably damaging 1.00
numb UTSW 10 128,116,934 (GRCm39) splice site probably null
Paresthetic UTSW 10 128,117,111 (GRCm39) critical splice donor site probably null
1mM(1):Stat2 UTSW 10 128,113,592 (GRCm39) missense probably benign 0.06
R0098:Stat2 UTSW 10 128,119,131 (GRCm39) missense probably damaging 1.00
R0334:Stat2 UTSW 10 128,113,736 (GRCm39) missense probably damaging 1.00
R0496:Stat2 UTSW 10 128,112,378 (GRCm39) missense probably benign 0.04
R1478:Stat2 UTSW 10 128,117,969 (GRCm39) critical splice acceptor site probably null
R2857:Stat2 UTSW 10 128,112,770 (GRCm39) splice site probably null
R3698:Stat2 UTSW 10 128,114,662 (GRCm39) missense probably benign 0.30
R3870:Stat2 UTSW 10 128,113,762 (GRCm39) missense probably benign 0.17
R5231:Stat2 UTSW 10 128,117,111 (GRCm39) critical splice donor site probably null
R5235:Stat2 UTSW 10 128,126,901 (GRCm39) critical splice donor site probably null
R5264:Stat2 UTSW 10 128,116,934 (GRCm39) splice site probably null
R5855:Stat2 UTSW 10 128,119,363 (GRCm39) missense probably damaging 1.00
R6752:Stat2 UTSW 10 128,119,622 (GRCm39) missense probably damaging 1.00
R7459:Stat2 UTSW 10 128,112,434 (GRCm39) missense possibly damaging 0.95
R7467:Stat2 UTSW 10 128,113,772 (GRCm39) splice site probably null
R7599:Stat2 UTSW 10 128,113,066 (GRCm39) missense possibly damaging 0.45
R7756:Stat2 UTSW 10 128,126,597 (GRCm39) small deletion probably benign
R7814:Stat2 UTSW 10 128,126,597 (GRCm39) small deletion probably benign
R7992:Stat2 UTSW 10 128,120,831 (GRCm39) missense probably damaging 1.00
R8335:Stat2 UTSW 10 128,112,452 (GRCm39) missense possibly damaging 0.77
R8825:Stat2 UTSW 10 128,127,233 (GRCm39) missense possibly damaging 0.70
R9052:Stat2 UTSW 10 128,117,538 (GRCm39) missense probably damaging 1.00
R9104:Stat2 UTSW 10 128,117,111 (GRCm39) critical splice donor site probably null
R9244:Stat2 UTSW 10 128,118,634 (GRCm39) missense possibly damaging 0.93
R9405:Stat2 UTSW 10 128,114,634 (GRCm39) missense probably damaging 0.99
R9433:Stat2 UTSW 10 128,112,657 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02