Incidental Mutation 'R4931:Stat5b'
ID 500839
Institutional Source Beutler Lab
Gene Symbol Stat5b
Ensembl Gene ENSMUSG00000020919
Gene Name signal transducer and activator of transcription 5B
Synonyms
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100671557-100741407 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 100675080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 710 (E710*)
Ref Sequence ENSEMBL: ENSMUSP00000102981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004143] [ENSMUST00000107358]
AlphaFold P42232
Predicted Effect probably null
Transcript: ENSMUST00000004143
AA Change: E710*
SMART Domains Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: E710*

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 null
Transcript: ENSMUST00000107358
AA Change: E710*
SMART Domains Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: E710*

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Stat5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Stat5b APN 11 100,695,739 (GRCm39) missense probably damaging 1.00
IGL02675:Stat5b APN 11 100,678,200 (GRCm39) missense probably benign 0.26
IGL02683:Stat5b APN 11 100,695,772 (GRCm39) missense probably benign 0.11
IGL02725:Stat5b APN 11 100,695,840 (GRCm39) missense possibly damaging 0.91
R0305:Stat5b UTSW 11 100,693,329 (GRCm39) missense probably benign 0.00
R0315:Stat5b UTSW 11 100,679,286 (GRCm39) missense probably benign 0.01
R0452:Stat5b UTSW 11 100,689,156 (GRCm39) missense probably benign 0.00
R1267:Stat5b UTSW 11 100,689,419 (GRCm39) missense probably benign 0.08
R1527:Stat5b UTSW 11 100,699,220 (GRCm39) critical splice donor site probably null
R2059:Stat5b UTSW 11 100,678,158 (GRCm39) missense probably benign 0.12
R2316:Stat5b UTSW 11 100,687,318 (GRCm39) missense probably damaging 1.00
R2990:Stat5b UTSW 11 100,699,188 (GRCm39) splice site probably null
R4380:Stat5b UTSW 11 100,678,175 (GRCm39) missense probably damaging 1.00
R4478:Stat5b UTSW 11 100,678,110 (GRCm39) missense probably benign 0.31
R4584:Stat5b UTSW 11 100,678,064 (GRCm39) missense probably damaging 1.00
R4806:Stat5b UTSW 11 100,681,623 (GRCm39) missense probably benign
R5008:Stat5b UTSW 11 100,693,309 (GRCm39) missense probably benign 0.00
R5015:Stat5b UTSW 11 100,695,831 (GRCm39) missense possibly damaging 0.64
R5072:Stat5b UTSW 11 100,699,361 (GRCm39) critical splice acceptor site probably null
R5601:Stat5b UTSW 11 100,674,001 (GRCm39) missense probably damaging 0.99
R5638:Stat5b UTSW 11 100,675,080 (GRCm39) nonsense probably null
R5901:Stat5b UTSW 11 100,695,733 (GRCm39) missense possibly damaging 0.62
R6577:Stat5b UTSW 11 100,688,526 (GRCm39) missense probably benign 0.00
R7882:Stat5b UTSW 11 100,674,601 (GRCm39) missense possibly damaging 0.55
R8147:Stat5b UTSW 11 100,688,607 (GRCm39) missense probably benign 0.06
R8188:Stat5b UTSW 11 100,692,262 (GRCm39) missense probably damaging 1.00
R9022:Stat5b UTSW 11 100,681,634 (GRCm39) missense probably benign
R9114:Stat5b UTSW 11 100,692,350 (GRCm39) missense probably damaging 0.97
R9449:Stat5b UTSW 11 100,681,674 (GRCm39) missense probably benign 0.00
R9489:Stat5b UTSW 11 100,699,276 (GRCm39) missense possibly damaging 0.50
R9492:Stat5b UTSW 11 100,692,361 (GRCm39) missense probably benign 0.01
R9605:Stat5b UTSW 11 100,699,276 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GGAACTCAGTTATATCTCAAAGGC -3'
(R):5'- TACCTGCTGTGTCGGTCATG -3'

Sequencing Primer
(F):5'- CTTAGGGACTGGACTCAGGTGC -3'
(R):5'- CATGTTCTGAGTTGAGATTAAGAGGC -3'
Posted On 2017-12-01