Incidental Mutation 'IGL02683:Stat5b'
ID303463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stat5b
Ensembl Gene ENSMUSG00000020919
Gene Namesignal transducer and activator of transcription 5B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02683
Quality Score
Status
Chromosome11
Chromosomal Location100780731-100850724 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 100804946 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 70 (K70T)
Ref Sequence ENSEMBL: ENSMUSP00000102981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004143] [ENSMUST00000107358]
Predicted Effect probably benign
Transcript: ENSMUST00000004143
AA Change: K70T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: K70T

DomainStartEndE-ValueType
STAT_int 2 126 2.3e-60 SMART
Pfam:STAT_alpha 138 330 1e-57 PFAM
Pfam:STAT_bind 332 583 1.6e-100 PFAM
SH2 587 676 3.23e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107358
AA Change: K70T

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: K70T

DomainStartEndE-ValueType
STAT_int 2 126 2.3e-60 SMART
Pfam:STAT_alpha 141 330 7.1e-56 PFAM
Pfam:STAT_bind 332 582 3.3e-105 PFAM
SH2 587 676 3.23e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126266
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 family of transcription factors. 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 mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this are reduced in size and mammary glands secrete reduced levels of some milk proteins during lactation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,052,531 probably benign Het
Abhd3 A G 18: 10,658,790 S215P probably damaging Het
Adam20 G A 8: 40,795,584 V244M probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnal1 G A 12: 84,138,354 G178D probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Nudt5 C A 2: 5,863,601 S103R probably damaging Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Ppp1r14d T C 2: 119,218,822 E95G probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Usp42 T C 5: 143,715,346 E974G possibly damaging Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A probably benign Het
Other mutations in Stat5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Stat5b APN 11 100804913 missense probably damaging 1.00
IGL02675:Stat5b APN 11 100787374 missense probably benign 0.26
IGL02725:Stat5b APN 11 100805014 missense possibly damaging 0.91
R0305:Stat5b UTSW 11 100802503 missense probably benign 0.00
R0315:Stat5b UTSW 11 100788460 missense probably benign 0.01
R0452:Stat5b UTSW 11 100798330 missense probably benign 0.00
R1267:Stat5b UTSW 11 100798593 missense probably benign 0.08
R1527:Stat5b UTSW 11 100808394 critical splice donor site probably null
R2059:Stat5b UTSW 11 100787332 missense probably benign 0.12
R2316:Stat5b UTSW 11 100796492 missense probably damaging 1.00
R2990:Stat5b UTSW 11 100808362 splice site probably null
R4380:Stat5b UTSW 11 100787349 missense probably damaging 1.00
R4478:Stat5b UTSW 11 100787284 missense probably benign 0.31
R4584:Stat5b UTSW 11 100787238 missense probably damaging 1.00
R4806:Stat5b UTSW 11 100790797 missense probably benign
R4931:Stat5b UTSW 11 100784254 nonsense probably null
R5008:Stat5b UTSW 11 100802483 missense probably benign 0.00
R5015:Stat5b UTSW 11 100805005 missense possibly damaging 0.64
R5072:Stat5b UTSW 11 100808535 critical splice acceptor site probably null
R5601:Stat5b UTSW 11 100783175 missense probably damaging 0.99
R5638:Stat5b UTSW 11 100784254 nonsense probably null
R5901:Stat5b UTSW 11 100804907 missense possibly damaging 0.62
R6577:Stat5b UTSW 11 100797700 missense probably benign 0.00
R7882:Stat5b UTSW 11 100783775 missense possibly damaging 0.55
R8147:Stat5b UTSW 11 100797781 missense probably benign 0.06
R8188:Stat5b UTSW 11 100801436 missense probably damaging 1.00
Posted On2015-04-16