Incidental Mutation 'R7671:Stk17b'
ID 592138
Institutional Source Beutler Lab
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: 0.107) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 53755506-53785224 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53766000 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 134 (D134V)
Ref Sequence ENSEMBL: ENSMUSP00000027263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027263] [ENSMUST00000185920]
AlphaFold Q8BG48
Predicted Effect probably damaging
Transcript: ENSMUST00000027263
AA Change: D134V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: D134V

DomainStartEndE-ValueType
S_TKc 33 293 5.77e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185920
AA Change: D6V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139880
Gene: ENSMUSG00000026094
AA Change: D6V

DomainStartEndE-ValueType
S_TKc 1 93 5.8e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,259,925 (GRCm38) I394N probably damaging Het
4930435E12Rik C T 16: 38,828,091 (GRCm38) D219N possibly damaging Het
4932438A13Rik T C 3: 36,943,231 (GRCm38) F1146L probably damaging Het
4933406M09Rik T C 1: 134,390,062 (GRCm38) C191R probably benign Het
Akap13 C A 7: 75,569,900 (GRCm38) T17K probably damaging Het
Ankrd29 T A 18: 12,260,986 (GRCm38) K257I probably damaging Het
Bicc1 A G 10: 70,957,167 (GRCm38) L219P probably benign Het
Boc C T 16: 44,491,849 (GRCm38) V617M Het
Ccl8 A G 11: 82,115,207 (GRCm38) probably benign Het
Col18a1 A G 10: 77,085,383 (GRCm38) L261P unknown Het
Col5a3 T A 9: 20,775,086 (GRCm38) probably null Het
Cryba4 A C 5: 112,248,173 (GRCm38) probably null Het
Csf2rb A G 15: 78,338,930 (GRCm38) Y114C probably damaging Het
Ctif T C 18: 75,472,016 (GRCm38) D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 (GRCm38) F261L probably damaging Het
Defb22 A T 2: 152,486,030 (GRCm38) N78K unknown Het
Efr3a G A 15: 65,837,434 (GRCm38) probably null Het
Elp4 G T 2: 105,904,481 (GRCm38) A3E probably damaging Het
Emilin2 A G 17: 71,273,910 (GRCm38) V607A probably benign Het
Epsti1 A G 14: 77,904,490 (GRCm38) Y2C probably damaging Het
Fam81b A C 13: 76,271,293 (GRCm38) L46R probably damaging Het
Fam81b G T 13: 76,271,294 (GRCm38) L46I possibly damaging Het
Fbxo15 T A 18: 84,964,153 (GRCm38) H288Q probably damaging Het
Gabrg1 T A 5: 70,815,980 (GRCm38) N77I probably damaging Het
Ganab A G 19: 8,912,852 (GRCm38) Y715C possibly damaging Het
Hist3h2ba T C 11: 58,949,276 (GRCm38) S113P possibly damaging Het
Iqgap2 T C 13: 95,628,119 (GRCm38) D1539G probably damaging Het
Kcp T C 6: 29,496,517 (GRCm38) N633S probably benign Het
Krt6a C A 15: 101,690,543 (GRCm38) S529I unknown Het
Leo1 A G 9: 75,445,562 (GRCm38) H129R probably benign Het
Lmf1 G A 17: 25,579,349 (GRCm38) V55M possibly damaging Het
Mcm9 A G 10: 53,537,569 (GRCm38) S472P probably benign Het
Med27 T A 2: 29,377,938 (GRCm38) V33D Het
Mup15 C T 4: 61,438,289 (GRCm38) E80K probably benign Het
Myo18a G A 11: 77,859,420 (GRCm38) R199H Het
Nebl T A 2: 17,390,916 (GRCm38) R558* probably null Het
Olfr1121 A G 2: 87,372,269 (GRCm38) T246A probably damaging Het
Olfr1252 A T 2: 89,721,259 (GRCm38) I284K probably damaging Het
Olfr1329 A T 4: 118,916,986 (GRCm38) H160Q probably benign Het
Olfr506 T C 7: 108,612,991 (GRCm38) I228T probably damaging Het
Olfr740 G T 14: 50,453,885 (GRCm38) V278L probably benign Het
Olfr815 T C 10: 129,902,353 (GRCm38) D119G probably damaging Het
Olfr890 A T 9: 38,143,440 (GRCm38) M97L probably benign Het
Pde11a A T 2: 76,215,353 (GRCm38) F376I possibly damaging Het
Prima1 A T 12: 103,235,661 (GRCm38) C52S probably damaging Het
Pxn G A 5: 115,548,547 (GRCm38) R366H not run Het
Sgce T C 6: 4,691,564 (GRCm38) Y337C probably damaging Het
Slc25a10 T A 11: 120,495,460 (GRCm38) M130K probably benign Het
Slc29a2 A T 19: 5,024,262 (GRCm38) N5I probably benign Het
Slc35a1 A T 4: 34,673,875 (GRCm38) H150Q Het
Slc5a4a T A 10: 76,147,550 (GRCm38) V7D unknown Het
Thbs3 T A 3: 89,216,707 (GRCm38) S36T probably benign Het
Thsd4 A G 9: 60,428,174 (GRCm38) S152P probably benign Het
Tmem67 G T 4: 12,063,698 (GRCm38) H422N probably benign Het
Tram1 C A 1: 13,589,644 (GRCm38) V27F probably damaging Het
Trim14 A G 4: 46,507,238 (GRCm38) V326A possibly damaging Het
Other mutations in Stk17b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Stk17b APN 1 53,764,140 (GRCm38) missense probably damaging 0.99
IGL00767:Stk17b APN 1 53,764,023 (GRCm38) splice site probably benign
IGL01012:Stk17b APN 1 53,761,037 (GRCm38) missense probably benign 0.06
IGL01431:Stk17b APN 1 53,765,915 (GRCm38) splice site probably benign
IGL01914:Stk17b APN 1 53,761,067 (GRCm38) missense probably damaging 0.98
IGL02236:Stk17b APN 1 53,764,088 (GRCm38) missense probably damaging 1.00
IGL02827:Stk17b APN 1 53,776,542 (GRCm38) missense probably benign 0.03
R0013:Stk17b UTSW 1 53,764,132 (GRCm38) missense probably benign 0.36
R0545:Stk17b UTSW 1 53,762,583 (GRCm38) splice site probably benign
R0831:Stk17b UTSW 1 53,757,492 (GRCm38) missense probably damaging 1.00
R1035:Stk17b UTSW 1 53,762,599 (GRCm38) missense probably benign 0.22
R1375:Stk17b UTSW 1 53,765,947 (GRCm38) missense possibly damaging 0.83
R1576:Stk17b UTSW 1 53,757,590 (GRCm38) missense probably damaging 1.00
R1809:Stk17b UTSW 1 53,765,981 (GRCm38) missense possibly damaging 0.80
R1988:Stk17b UTSW 1 53,761,082 (GRCm38) missense probably damaging 1.00
R2033:Stk17b UTSW 1 53,761,076 (GRCm38) missense probably damaging 1.00
R2105:Stk17b UTSW 1 53,776,605 (GRCm38) missense probably benign 0.01
R2255:Stk17b UTSW 1 53,776,572 (GRCm38) missense probably benign 0.00
R4395:Stk17b UTSW 1 53,764,115 (GRCm38) missense probably damaging 0.98
R4521:Stk17b UTSW 1 53,764,038 (GRCm38) missense probably damaging 1.00
R4777:Stk17b UTSW 1 53,771,708 (GRCm38) missense probably damaging 1.00
R4871:Stk17b UTSW 1 53,757,534 (GRCm38) missense probably benign 0.14
R4892:Stk17b UTSW 1 53,771,611 (GRCm38) missense probably damaging 0.99
R4999:Stk17b UTSW 1 53,761,147 (GRCm38) splice site probably null
R5122:Stk17b UTSW 1 53,776,558 (GRCm38) missense probably damaging 1.00
R5621:Stk17b UTSW 1 53,771,784 (GRCm38) nonsense probably null
R6636:Stk17b UTSW 1 53,761,088 (GRCm38) missense probably damaging 1.00
R6924:Stk17b UTSW 1 53,761,059 (GRCm38) missense possibly damaging 0.54
R7283:Stk17b UTSW 1 53,757,515 (GRCm38) missense probably benign
R7322:Stk17b UTSW 1 53,765,945 (GRCm38) missense probably benign 0.16
R8984:Stk17b UTSW 1 53,757,625 (GRCm38) missense probably benign 0.05
R9476:Stk17b UTSW 1 53,757,739 (GRCm38) missense probably damaging 1.00
R9510:Stk17b UTSW 1 53,757,739 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTGTATCAACAGCACCC -3'
(R):5'- GAAGTTTGAGAGCACTGAATCC -3'

Sequencing Primer
(F):5'- TGTATCAACAGCACCCTAGCACTG -3'
(R):5'- TCTTGACAGACAGAGATGGTATACC -3'
Posted On 2019-11-12