Incidental Mutation 'IGL01914:Stk17b'
ID179886
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 #IGL01914
Quality Score
Status
Chromosome1
Chromosomal Location53755506-53785224 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53761067 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 251 (N251D)
Ref Sequence ENSEMBL: ENSMUSP00000027263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027263] [ENSMUST00000185920]
Predicted Effect probably damaging
Transcript: ENSMUST00000027263
AA Change: N251D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: N251D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187066
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 A T 15: 102,551,478 Y67* probably null Het
Atp6v1b2 C A 8: 69,096,280 probably benign Het
Cd24a T C 10: 43,582,703 S79P unknown Het
Col4a2 G A 8: 11,414,754 E340K possibly damaging Het
Dtna A T 18: 23,597,459 N301I possibly damaging Het
Ero1l T C 14: 45,306,612 D45G probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H6pd A T 4: 149,994,463 probably benign Het
Htt A G 5: 34,829,709 T1091A probably benign Het
Msto1 T C 3: 88,912,903 E82G probably benign Het
Mup11 T A 4: 60,659,822 probably benign Het
Nlrp9a T A 7: 26,557,264 N13K probably benign Het
Nsun7 C T 5: 66,276,634 P209L probably damaging Het
Olfr1042 C T 2: 86,160,047 V108I probably benign Het
Olfr1045 G A 2: 86,198,672 L27F probably benign Het
Olfr209 A T 16: 59,361,931 C96S probably damaging Het
Pecam1 A G 11: 106,699,867 I27T possibly damaging Het
Prkcd T C 14: 30,607,426 E19G possibly damaging Het
Slc4a11 A T 2: 130,687,279 I417N probably damaging Het
Stat1 T C 1: 52,126,557 I104T probably benign Het
Ttll4 C T 1: 74,679,058 H23Y probably benign Het
Vmn2r79 A T 7: 87,037,363 T651S probably benign 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
IGL02236:Stk17b APN 1 53764088 missense probably damaging 1.00
IGL02827:Stk17b APN 1 53776542 missense probably benign 0.03
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 unclassified 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 On2014-05-07