Incidental Mutation 'R6026:Stat5a'
ID 480061
Institutional Source Beutler Lab
Gene Symbol Stat5a
Ensembl Gene ENSMUSG00000004043
Gene Name signal transducer and activator of transcription 5A
Synonyms STAT5
MMRRC Submission 044198-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6026 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100750177-100775995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100771142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 574 (F574L)
Ref Sequence ENSEMBL: ENSMUSP00000102979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000103114] [ENSMUST00000107356] [ENSMUST00000107357]
AlphaFold P42230
Predicted Effect probably damaging
Transcript: ENSMUST00000004145
AA Change: F574L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: F574L

DomainStartEndE-ValueType
STAT_int 2 126 4.42e-62 SMART
Pfam:STAT_alpha 138 330 6.9e-58 PFAM
Pfam:STAT_bind 332 583 2.4e-101 PFAM
SH2 587 688 7.64e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103114
SMART Domains Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040

DomainStartEndE-ValueType
STAT_int 2 122 3.03e-60 SMART
Pfam:STAT_alpha 138 319 7.2e-62 PFAM
Pfam:STAT_bind 321 574 5.7e-130 PFAM
SH2 582 663 2.84e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107356
AA Change: F574L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: F574L

DomainStartEndE-ValueType
STAT_int 2 126 4.42e-62 SMART
Pfam:STAT_alpha 138 330 6.9e-58 PFAM
Pfam:STAT_bind 332 583 2.4e-101 PFAM
SH2 587 688 7.64e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107357
AA Change: F574L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: F574L

DomainStartEndE-ValueType
STAT_int 2 126 4.42e-62 SMART
Pfam:STAT_alpha 141 330 4.5e-57 PFAM
Pfam:STAT_bind 332 582 1e-104 PFAM
SH2 587 688 1.55e-6 SMART
low complexity region 713 729 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154087
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
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 is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene are reduced in size and display abnormalities in both mammary gland structure and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Col26a1 A G 5: 136,876,354 (GRCm39) C89R probably damaging Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Ercc3 T C 18: 32,378,974 (GRCm39) probably null Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gad2 G A 2: 22,513,748 (GRCm39) V62M probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hhip A T 8: 80,699,069 (GRCm39) C666S probably damaging Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Ppp6r2 A G 15: 89,167,113 (GRCm39) N776S probably benign Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Tcirg1 T C 19: 3,947,487 (GRCm39) H624R probably benign Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging Het
Other mutations in Stat5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Stat5a APN 11 100,771,898 (GRCm39) missense probably damaging 1.00
IGL02021:Stat5a APN 11 100,774,715 (GRCm39) missense probably damaging 1.00
IGL02032:Stat5a APN 11 100,752,654 (GRCm39) missense probably damaging 0.99
IGL03108:Stat5a APN 11 100,753,965 (GRCm39) nonsense probably null
IGL03160:Stat5a APN 11 100,752,671 (GRCm39) missense possibly damaging 0.71
Blinken UTSW 11 100,771,308 (GRCm39) missense
hohum UTSW 11 100,764,955 (GRCm39) missense probably damaging 1.00
Nod UTSW 11 100,767,689 (GRCm39) missense probably damaging 1.00
Nodoze UTSW 11 100,771,353 (GRCm39) missense probably benign 0.05
Yawn UTSW 11 100,770,519 (GRCm39) missense possibly damaging 0.50
R0098:Stat5a UTSW 11 100,766,452 (GRCm39) missense probably damaging 0.98
R0362:Stat5a UTSW 11 100,772,909 (GRCm39) missense probably benign 0.01
R0452:Stat5a UTSW 11 100,753,961 (GRCm39) missense probably benign 0.20
R0520:Stat5a UTSW 11 100,752,252 (GRCm39) missense probably damaging 0.98
R0815:Stat5a UTSW 11 100,765,908 (GRCm39) splice site probably null
R1081:Stat5a UTSW 11 100,771,886 (GRCm39) missense probably damaging 1.00
R1752:Stat5a UTSW 11 100,774,884 (GRCm39) makesense probably null
R1774:Stat5a UTSW 11 100,770,112 (GRCm39) missense probably damaging 1.00
R1868:Stat5a UTSW 11 100,764,955 (GRCm39) missense probably damaging 1.00
R2152:Stat5a UTSW 11 100,764,916 (GRCm39) missense probably benign 0.38
R2900:Stat5a UTSW 11 100,764,957 (GRCm39) missense probably benign 0.18
R4023:Stat5a UTSW 11 100,765,752 (GRCm39) nonsense probably null
R4791:Stat5a UTSW 11 100,756,289 (GRCm39) missense probably damaging 1.00
R5396:Stat5a UTSW 11 100,771,409 (GRCm39) missense probably damaging 1.00
R5641:Stat5a UTSW 11 100,767,634 (GRCm39) missense probably benign 0.01
R5723:Stat5a UTSW 11 100,772,900 (GRCm39) missense probably benign 0.00
R5896:Stat5a UTSW 11 100,767,883 (GRCm39) missense possibly damaging 0.94
R7052:Stat5a UTSW 11 100,770,111 (GRCm39) missense probably damaging 1.00
R7075:Stat5a UTSW 11 100,770,519 (GRCm39) missense possibly damaging 0.50
R7568:Stat5a UTSW 11 100,765,850 (GRCm39) missense possibly damaging 0.74
R7771:Stat5a UTSW 11 100,754,045 (GRCm39) missense probably benign 0.34
R7801:Stat5a UTSW 11 100,771,143 (GRCm39) missense probably damaging 1.00
R7814:Stat5a UTSW 11 100,765,853 (GRCm39) missense probably damaging 1.00
R7856:Stat5a UTSW 11 100,774,728 (GRCm39) missense unknown
R8176:Stat5a UTSW 11 100,767,689 (GRCm39) missense probably damaging 1.00
R8234:Stat5a UTSW 11 100,770,129 (GRCm39) missense possibly damaging 0.59
R8680:Stat5a UTSW 11 100,774,714 (GRCm39) missense unknown
R8923:Stat5a UTSW 11 100,771,308 (GRCm39) missense
R8970:Stat5a UTSW 11 100,771,353 (GRCm39) missense probably benign 0.05
R8988:Stat5a UTSW 11 100,774,764 (GRCm39) missense unknown
R9401:Stat5a UTSW 11 100,756,254 (GRCm39) missense possibly damaging 0.73
R9433:Stat5a UTSW 11 100,765,870 (GRCm39) missense probably benign 0.03
R9526:Stat5a UTSW 11 100,771,161 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGCACAGACAACTCTTCTTAGC -3'
(R):5'- GTTGCTTGTTCACGAAACCC -3'

Sequencing Primer
(F):5'- GGATAGCCCCATGTATAGAAACTTG -3'
(R):5'- GCTTGTTCACGAAACCCAGGATAG -3'
Posted On 2017-06-26