Incidental Mutation 'IGL02827:Stk17b'
ID 361259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk17b
Ensembl Gene ENSMUSG00000026094
Gene Name serine/threonine kinase 17b (apoptosis-inducing)
Synonyms 3110009A03Rik, Drak2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02827
Quality Score
Status
Chromosome 1
Chromosomal Location 53794671-53824374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53815701 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BG48
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: 79,845,699 (GRCm39) S1554P probably damaging Het
Actn2 A T 13: 12,290,085 (GRCm39) L152Q probably damaging Het
Afg3l2 T C 18: 67,559,015 (GRCm39) I369V probably damaging Het
Aqp6 G A 15: 99,500,892 (GRCm39) G199S probably damaging Het
Asgr2 A G 11: 69,987,723 (GRCm39) I74V probably benign Het
Cebpz T C 17: 79,236,760 (GRCm39) R702G probably damaging Het
Cers1 C T 8: 70,774,177 (GRCm39) P145S probably damaging Het
Ddx21 T C 10: 62,434,153 (GRCm39) K202R probably benign Het
Gphn A T 12: 78,655,994 (GRCm39) D407V probably damaging Het
Hnf1b A G 11: 83,746,752 (GRCm39) K123E probably damaging Het
Ifitm10 T C 7: 141,882,317 (GRCm39) D151G unknown Het
Ifna14 T A 4: 88,489,601 (GRCm39) K145N probably benign Het
Lamc2 C T 1: 153,015,527 (GRCm39) C602Y probably damaging Het
Mrps25 T C 6: 92,152,163 (GRCm39) E119G probably benign Het
Or10ak9 A T 4: 118,726,157 (GRCm39) M60L probably damaging Het
Or1f12 A G 13: 21,721,528 (GRCm39) S216P probably benign Het
Pgm5 C A 19: 24,686,659 (GRCm39) R516L probably benign Het
Pramel31 C T 4: 144,090,331 (GRCm39) A457V probably damaging Het
Rmnd5b A G 11: 51,518,849 (GRCm39) L48P possibly damaging Het
Samd4b G A 7: 28,113,546 (GRCm39) R140C probably damaging Het
Sema3d T C 5: 12,635,085 (GRCm39) I717T probably benign Het
Sh3tc2 G A 18: 62,146,230 (GRCm39) S1203N probably benign Het
Smpdl3a A G 10: 57,678,592 (GRCm39) T132A probably damaging Het
Stard13 T C 5: 150,986,591 (GRCm39) I188M probably benign Het
Stxbp3 A T 3: 108,717,211 (GRCm39) I264N probably damaging Het
Tmem60 T A 5: 21,091,622 (GRCm39) F129Y probably damaging Het
Trpm1 A G 7: 63,868,908 (GRCm39) D404G probably null Het
Unc79 A C 12: 103,041,105 (GRCm39) S713R possibly damaging Het
Uox A C 3: 146,302,951 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,886,800 (GRCm39) D38G probably damaging Het
Vps13a T C 19: 16,618,998 (GRCm39) D2856G possibly damaging Het
Vsig10l T C 7: 43,114,293 (GRCm39) L205P probably damaging Het
Other mutations in Stk17b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Stk17b APN 1 53,803,299 (GRCm39) missense probably damaging 0.99
IGL00767:Stk17b APN 1 53,803,182 (GRCm39) splice site probably benign
IGL01012:Stk17b APN 1 53,800,196 (GRCm39) missense probably benign 0.06
IGL01431:Stk17b APN 1 53,805,074 (GRCm39) splice site probably benign
IGL01914:Stk17b APN 1 53,800,226 (GRCm39) missense probably damaging 0.98
IGL02236:Stk17b APN 1 53,803,247 (GRCm39) missense probably damaging 1.00
R0013:Stk17b UTSW 1 53,803,291 (GRCm39) missense probably benign 0.36
R0545:Stk17b UTSW 1 53,801,742 (GRCm39) splice site probably benign
R0831:Stk17b UTSW 1 53,796,651 (GRCm39) missense probably damaging 1.00
R1035:Stk17b UTSW 1 53,801,758 (GRCm39) missense probably benign 0.22
R1375:Stk17b UTSW 1 53,805,106 (GRCm39) missense possibly damaging 0.83
R1576:Stk17b UTSW 1 53,796,749 (GRCm39) missense probably damaging 1.00
R1809:Stk17b UTSW 1 53,805,140 (GRCm39) missense possibly damaging 0.80
R1988:Stk17b UTSW 1 53,800,241 (GRCm39) missense probably damaging 1.00
R2033:Stk17b UTSW 1 53,800,235 (GRCm39) missense probably damaging 1.00
R2105:Stk17b UTSW 1 53,815,764 (GRCm39) missense probably benign 0.01
R2255:Stk17b UTSW 1 53,815,731 (GRCm39) missense probably benign 0.00
R4395:Stk17b UTSW 1 53,803,274 (GRCm39) missense probably damaging 0.98
R4521:Stk17b UTSW 1 53,803,197 (GRCm39) missense probably damaging 1.00
R4777:Stk17b UTSW 1 53,810,867 (GRCm39) missense probably damaging 1.00
R4871:Stk17b UTSW 1 53,796,693 (GRCm39) missense probably benign 0.14
R4892:Stk17b UTSW 1 53,810,770 (GRCm39) missense probably damaging 0.99
R4999:Stk17b UTSW 1 53,800,306 (GRCm39) splice site probably null
R5122:Stk17b UTSW 1 53,815,717 (GRCm39) missense probably damaging 1.00
R5621:Stk17b UTSW 1 53,810,943 (GRCm39) nonsense probably null
R6636:Stk17b UTSW 1 53,800,247 (GRCm39) missense probably damaging 1.00
R6924:Stk17b UTSW 1 53,800,218 (GRCm39) missense possibly damaging 0.54
R7283:Stk17b UTSW 1 53,796,674 (GRCm39) missense probably benign
R7322:Stk17b UTSW 1 53,805,104 (GRCm39) missense probably benign 0.16
R7671:Stk17b UTSW 1 53,805,159 (GRCm39) missense probably damaging 0.99
R8984:Stk17b UTSW 1 53,796,784 (GRCm39) missense probably benign 0.05
R9476:Stk17b UTSW 1 53,796,898 (GRCm39) missense probably damaging 1.00
R9510:Stk17b UTSW 1 53,796,898 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18