Incidental Mutation 'R9476:Stk17b'
ID 715743
Institutional Source Beutler Lab
Gene Symbol Stk17b
Ensembl Gene ENSMUSG00000026094
Gene Name serine/threonine kinase 17b (apoptosis-inducing)
Synonyms 3110009A03Rik, Drak2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9476 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 53755506-53785224 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53757739 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 290 (H290N)
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: H290N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027263
Gene: ENSMUSG00000026094
AA Change: H290N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T G 4: 42,760,998 W6G unknown Het
Aatk A T 11: 120,010,268 C1101S probably benign Het
Abcb4 A T 5: 8,927,790 D456V probably damaging Het
Abcc8 T C 7: 46,169,846 E186G possibly damaging Het
Adam18 T C 8: 24,625,791 N629S probably benign Het
Angpt2 T G 8: 18,714,127 N133T probably benign Het
Ankrd13c T A 3: 157,991,759 S334T probably benign Het
Ankrd13d A T 19: 4,270,261 S151T unknown Het
Ap3d1 G A 10: 80,709,821 P1025S probably benign Het
Bhlhe41 G A 6: 145,863,222 A288V possibly damaging Het
Cacna1b T C 2: 24,650,046 E1467G probably damaging Het
Cacna1h T A 17: 25,392,550 T425S probably damaging Het
Cdk13 A C 13: 17,728,162 C934W probably damaging Het
Ces1b T A 8: 93,073,262 N162I probably damaging Het
Clec9a T A 6: 129,421,060 I187K possibly damaging Het
Cpsf3 A G 12: 21,300,079 I266M probably damaging Het
Cr2 G T 1: 195,158,108 L509M probably damaging Het
Creb3l2 C A 6: 37,334,511 G448W probably damaging Het
Csmd1 T A 8: 15,931,215 probably null Het
Cul9 G A 17: 46,510,907 R1881W probably damaging Het
Cyth1 C T 11: 118,185,380 probably null Het
Dnhd1 A T 7: 105,703,682 N2681Y possibly damaging Het
Dnm1 T C 2: 32,323,727 M476V probably benign Het
Dnmt3a A G 12: 3,907,707 H896R probably damaging Het
Dock1 T G 7: 134,990,550 I938S probably benign Het
Dock6 G A 9: 21,813,525 L1515F probably damaging Het
Dusp16 T C 6: 134,718,263 H535R probably benign Het
Fancd2os T A 6: 113,598,033 Y4F probably damaging Het
Fat4 A T 3: 38,983,737 Q3846L probably benign Het
Fbxw10 A C 11: 62,852,988 H240P probably benign Het
Frmd4a A G 2: 4,603,513 T731A probably benign Het
Gm44501 T A 17: 40,578,929 H111Q possibly damaging Het
Gm8765 A G 13: 50,702,113 T596A possibly damaging Het
Gsdmc T C 15: 63,778,702 M277V probably benign Het
Hira A G 16: 18,954,039 D867G probably damaging Het
Hmcn1 A G 1: 150,586,376 S5184P probably benign Het
Ighv1-26 A C 12: 114,788,787 F7V probably benign Het
Igkv4-81 C T 6: 68,990,812 E102K possibly damaging Het
Inmt G T 6: 55,171,005 S213Y possibly damaging Het
Ints2 T A 11: 86,244,509 M360L probably benign Het
Itih3 A G 14: 30,909,459 S827P probably benign Het
Itpr3 G A 17: 27,118,677 probably benign Het
Kcnk12 C A 17: 87,746,694 R180L probably benign Het
Kndc1 G A 7: 139,930,118 S1291N probably benign Het
Mettl21a T C 1: 64,608,126 T91A probably damaging Het
Mmrn2 A G 14: 34,398,450 I426V possibly damaging Het
Mrpl21 T G 19: 3,287,704 V137G probably damaging Het
Nrbp2 T C 15: 76,089,777 N218S probably damaging Het
Nrip1 T C 16: 76,292,932 N579S probably benign Het
Nsf T C 11: 103,873,162 N365S probably damaging Het
Olfr774 A G 10: 129,238,787 I213V probably damaging Het
Olfr846 A T 9: 19,361,087 D89E probably benign Het
Osbpl3 C T 6: 50,336,214 probably null Het
Oscar T A 7: 3,611,844 H43L probably benign Het
Pam C T 1: 97,898,340 probably null Het
Parn A T 16: 13,541,078 M600K probably benign Het
Pcdha11 C A 18: 37,006,479 T387N probably benign Het
Plce1 G A 19: 38,777,893 E2121K possibly damaging Het
Prune2 T A 19: 17,119,342 Y737N possibly damaging Het
Ptch1 G A 13: 63,533,634 P613L probably benign Het
Ptprt A C 2: 161,555,461 C1129G probably damaging Het
Rara C T 11: 98,970,157 S157L probably benign Het
Rest T A 5: 77,268,251 M104K probably damaging Het
Rfc1 A G 5: 65,279,799 S513P probably damaging Het
Rnf40 T A 7: 127,602,636 I1000N probably damaging Het
Scube2 C T 7: 109,831,762 G410E probably damaging Het
Sh3gl2 A G 4: 85,385,852 E264G probably benign Het
Shank1 G A 7: 44,312,918 S71N unknown Het
Smc4 T G 3: 69,007,329 S92A probably damaging Het
Spata31d1b A G 13: 59,715,653 D205G probably benign Het
Spef2 T C 15: 9,713,117 R390G probably damaging Het
Speg T C 1: 75,401,124 F842S probably damaging Het
Stpg3 A T 2: 25,213,504 V191D probably benign Het
Supt6 C T 11: 78,229,464 R350H probably damaging Het
Tet3 T C 6: 83,403,953 E411G possibly damaging Het
Tet3 T A 6: 83,404,826 probably null Het
Tns3 A G 11: 8,445,702 I1234T probably damaging Het
Trim34b A G 7: 104,331,296 E197G probably damaging Het
Vcan G T 13: 89,703,412 T1143K possibly damaging Het
Vmn2r61 T A 7: 42,300,169 V671E probably damaging Het
Wdtc1 A G 4: 133,322,218 V29A probably damaging Het
Zfp462 G A 4: 55,080,735 M2450I probably benign Het
Zfp869 A T 8: 69,707,199 C241* probably null 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
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 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
R8984:Stk17b UTSW 1 53757625 missense probably benign 0.05
R9510:Stk17b UTSW 1 53757739 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGCAAGGAGTCATCGAATC -3'
(R):5'- GAAATAGCCCTGCCGTATACATAAG -3'

Sequencing Primer
(F):5'- ACTAAGCTGCCATCTTCAGGGATG -3'
(R):5'- TGGAAGACATGCTCAGCT -3'
Posted On 2022-06-15