Incidental Mutation 'IGL02827:Stk17b'
ID361259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk17b
Ensembl Gene ENSMUSG00000026094
Gene Nameserine/threonine kinase 17b (apoptosis-inducing)
Synonyms3110009A03Rik, Drak2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02827
Quality Score
Status
Chromosome1
Chromosomal Location53755506-53785224 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53776542 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 33 (T33A)
Ref Sequence ENSEMBL: ENSMUSP00000027263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027263] [ENSMUST00000185920]
Predicted Effect probably benign
Transcript: ENSMUST00000027263
AA Change: T33A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: T33A

DomainStartEndE-ValueType
S_TKc 33 293 5.77e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185920
SMART Domains Protein: ENSMUSP00000139880
Gene: ENSMUSG00000026094

DomainStartEndE-ValueType
S_TKc 1 93 5.8e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display abnormal T cell numbers, increased T cell proliferation, abnormal cytokine physiology, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 80,009,865 S1554P probably damaging Het
Actn2 A T 13: 12,275,199 L152Q probably damaging Het
Afg3l2 T C 18: 67,425,945 I369V probably damaging Het
Aqp6 G A 15: 99,603,011 G199S probably damaging Het
Asgr2 A G 11: 70,096,897 I74V probably benign Het
Cebpz T C 17: 78,929,331 R702G probably damaging Het
Cers1 C T 8: 70,321,527 P145S probably damaging Het
Ddx21 T C 10: 62,598,374 K202R probably benign Het
Gm13119 C T 4: 144,363,761 A457V probably damaging Het
Gphn A T 12: 78,609,220 D407V probably damaging Het
Hnf1b A G 11: 83,855,926 K123E probably damaging Het
Ifitm10 T C 7: 142,328,580 D151G unknown Het
Ifna14 T A 4: 88,571,364 K145N probably benign Het
Lamc2 C T 1: 153,139,781 C602Y probably damaging Het
Mrps25 T C 6: 92,175,182 E119G probably benign Het
Olfr1331 A T 4: 118,868,960 M60L probably damaging Het
Olfr1366 A G 13: 21,537,358 S216P probably benign Het
Pgm5 C A 19: 24,709,295 R516L probably benign Het
Rmnd5b A G 11: 51,628,022 L48P possibly damaging Het
Samd4b G A 7: 28,414,121 R140C probably damaging Het
Sema3d T C 5: 12,585,118 I717T probably benign Het
Sh3tc2 G A 18: 62,013,159 S1203N probably benign Het
Smpdl3a A G 10: 57,802,496 T132A probably damaging Het
Stard13 T C 5: 151,063,126 I188M probably benign Het
Stxbp3 A T 3: 108,809,895 I264N probably damaging Het
Tmem60 T A 5: 20,886,624 F129Y probably damaging Het
Trpm1 A G 7: 64,219,160 D404G probably null Het
Unc79 A C 12: 103,074,846 S713R possibly damaging Het
Uox A C 3: 146,597,196 probably benign Het
Vmn2r68 T C 7: 85,237,592 D38G probably damaging Het
Vps13a T C 19: 16,641,634 D2856G possibly damaging Het
Vsig10l T C 7: 43,464,869 L205P probably damaging Het
Other mutations in Stk17b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Stk17b APN 1 53764140 missense probably damaging 0.99
IGL00767:Stk17b APN 1 53764023 splice site probably benign
IGL01012:Stk17b APN 1 53761037 missense probably benign 0.06
IGL01431:Stk17b APN 1 53765915 splice site probably benign
IGL01914:Stk17b APN 1 53761067 missense probably damaging 0.98
IGL02236:Stk17b APN 1 53764088 missense probably damaging 1.00
R0013:Stk17b UTSW 1 53764132 missense probably benign 0.36
R0545:Stk17b UTSW 1 53762583 splice site probably benign
R0831:Stk17b UTSW 1 53757492 missense probably damaging 1.00
R1035:Stk17b UTSW 1 53762599 missense probably benign 0.22
R1375:Stk17b UTSW 1 53765947 missense possibly damaging 0.83
R1576:Stk17b UTSW 1 53757590 missense probably damaging 1.00
R1809:Stk17b UTSW 1 53765981 missense possibly damaging 0.80
R1988:Stk17b UTSW 1 53761082 missense probably damaging 1.00
R2033:Stk17b UTSW 1 53761076 missense probably damaging 1.00
R2105:Stk17b UTSW 1 53776605 missense probably benign 0.01
R2255:Stk17b UTSW 1 53776572 missense probably benign 0.00
R4395:Stk17b UTSW 1 53764115 missense probably damaging 0.98
R4521:Stk17b UTSW 1 53764038 missense probably damaging 1.00
R4777:Stk17b UTSW 1 53771708 missense probably damaging 1.00
R4871:Stk17b UTSW 1 53757534 missense probably benign 0.14
R4892:Stk17b UTSW 1 53771611 missense probably damaging 0.99
R4999:Stk17b UTSW 1 53761147 splice site probably null
R5122:Stk17b UTSW 1 53776558 missense probably damaging 1.00
R5621:Stk17b UTSW 1 53771784 nonsense probably null
R6636:Stk17b UTSW 1 53761088 missense probably damaging 1.00
R6924:Stk17b UTSW 1 53761059 missense possibly damaging 0.54
R7283:Stk17b UTSW 1 53757515 missense probably benign
R7322:Stk17b UTSW 1 53765945 missense probably benign 0.16
R7671:Stk17b UTSW 1 53766000 missense probably damaging 0.99
Posted On2015-12-18