Incidental Mutation 'R7568:Stat5a'
ID 585594
Institutional Source Beutler Lab
Gene Symbol Stat5a
Ensembl Gene ENSMUSG00000004043
Gene Name signal transducer and activator of transcription 5A
Synonyms STAT5
MMRRC Submission 045630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7568 (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 100765850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 312 (M312T)
Ref Sequence ENSEMBL: ENSMUSP00000102980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000107356] [ENSMUST00000107357]
AlphaFold P42230
Predicted Effect probably benign
Transcript: ENSMUST00000004145
AA Change: M312T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043
AA Change: M312T

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: ENSMUST00000107356
AA Change: M312T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043
AA Change: M312T

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 possibly damaging
Transcript: ENSMUST00000107357
AA Change: M312T

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043
AA Change: M312T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm39) T342S probably damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACT GGTTCTGTGGTCACTAGTTCTGTGGTCACT 3: 95,795,484 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTGGTCACTGGTTCTGTG GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG 3: 95,795,463 (GRCm39) probably benign Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Mlec T C 5: 115,288,181 (GRCm39) Y198C probably damaging Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Nfkbia A G 12: 55,538,546 (GRCm39) I82T probably damaging Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Or8b43 A G 9: 38,360,942 (GRCm39) Y258C probably damaging Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc39a12 T A 2: 14,404,939 (GRCm39) probably null Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V probably benign 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
R6026:Stat5a UTSW 11 100,771,142 (GRCm39) missense probably damaging 1.00
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
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'- AGTAGCATGCATCTTCCTCC -3'
(R):5'- TGTTCCAGAGGAGGACATGG -3'

Sequencing Primer
(F):5'- ATGCATCTTCCTCCCCTGG -3'
(R):5'- GCCACAGCAGCAGAGCTATG -3'
Posted On 2019-10-17