Incidental Mutation 'R0029:Stk38'
ID 44595
Institutional Source Beutler Lab
Gene Symbol Stk38
Ensembl Gene ENSMUSG00000024006
Gene Name serine/threonine kinase 38
Synonyms 5830476G13Rik, Ndr1, 9530097A09Rik
MMRRC Submission 038323-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R0029 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 29189854-29226969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29201112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 188 (E188G)
Ref Sequence ENSEMBL: ENSMUSP00000113657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009138] [ENSMUST00000119274]
AlphaFold Q91VJ4
Predicted Effect probably benign
Transcript: ENSMUST00000009138
AA Change: E188G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000009138
Gene: ENSMUSG00000024006
AA Change: E188G

DomainStartEndE-ValueType
Blast:S_TKc 31 77 1e-9 BLAST
S_TKc 89 382 1.69e-94 SMART
S_TK_X 383 447 1.23e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119274
AA Change: E188G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113657
Gene: ENSMUSG00000024006
AA Change: E188G

DomainStartEndE-ValueType
Blast:S_TKc 31 77 1e-9 BLAST
S_TKc 89 382 1.69e-94 SMART
S_TK_X 383 447 1.23e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144299
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 94% (48/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection and altered TLR9-activated inflammatory responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,225 (GRCm39) F434L probably benign Het
Abt1 A T 13: 23,606,678 (GRCm39) F141Y possibly damaging Het
Anapc15-ps A G 10: 95,508,857 (GRCm39) I141T probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Ccn4 C T 15: 66,784,713 (GRCm39) R129C probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cpa4 A G 6: 30,585,044 (GRCm39) Y276C probably damaging Het
Cpt1a A G 19: 3,431,674 (GRCm39) D698G probably benign Het
Crebbp T C 16: 3,935,307 (GRCm39) T861A probably damaging Het
Dpy19l2 T A 9: 24,469,397 (GRCm39) D753V probably damaging Het
Exosc7 A T 9: 122,948,302 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,157,357 (GRCm39) D244V probably damaging Het
Fgd5 A G 6: 92,044,539 (GRCm39) D1260G probably benign Het
Gapvd1 T A 2: 34,568,153 (GRCm39) I1404F probably damaging Het
Gas7 A G 11: 67,534,163 (GRCm39) S88G probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Il23r A C 6: 67,455,929 (GRCm39) probably null Het
Impg1 T C 9: 80,305,653 (GRCm39) D138G probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kirrel2 A G 7: 30,152,590 (GRCm39) probably benign Het
Lipm T C 19: 34,093,948 (GRCm39) probably benign Het
Lrpap1 T C 5: 35,255,021 (GRCm39) N205S possibly damaging Het
Mboat4 T G 8: 34,587,363 (GRCm39) F87V probably damaging Het
Nadsyn1 G C 7: 143,359,815 (GRCm39) Q386E probably benign Het
Nell1 G A 7: 49,770,463 (GRCm39) probably benign Het
Or5ac25 T C 16: 59,181,904 (GRCm39) R226G probably benign Het
Or8g35 T A 9: 39,381,956 (GRCm39) E22V probably benign Het
Pard3 G T 8: 128,153,239 (GRCm39) probably benign Het
Per2 C A 1: 91,351,434 (GRCm39) R1024L possibly damaging Het
Phf11c T C 14: 59,622,364 (GRCm39) D216G probably benign Het
Polk G A 13: 96,653,178 (GRCm39) T74I probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psmb7 T A 2: 38,523,919 (GRCm39) H152L probably damaging Het
Ralgps1 A T 2: 33,031,031 (GRCm39) D498E probably benign Het
Slc26a2 G A 18: 61,335,382 (GRCm39) P24S possibly damaging Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Spmip11 T C 15: 98,483,190 (GRCm39) probably null Het
Sulf2 T C 2: 165,958,893 (GRCm39) N105S possibly damaging Het
Sult2a3 T A 7: 13,806,999 (GRCm39) M228L probably benign Het
Svil C A 18: 5,063,286 (GRCm39) D852E probably benign Het
Tcaf2 A T 6: 42,607,093 (GRCm39) L287* probably null Het
Tmem132e A T 11: 82,335,587 (GRCm39) I890F probably damaging Het
Tmem63a A G 1: 180,790,031 (GRCm39) Y401C probably benign Het
Ttn T C 2: 76,596,850 (GRCm39) E20021G probably damaging Het
Ubac1 G T 2: 25,911,455 (GRCm39) T31N probably benign Het
Usp29 T C 7: 6,964,580 (GRCm39) L141P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Vmn1r204 A G 13: 22,740,588 (GRCm39) Y73C probably benign Het
Vmn2r2 T C 3: 64,024,365 (GRCm39) I739V probably benign Het
Other mutations in Stk38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02364:Stk38 APN 17 29,210,390 (GRCm39) missense probably benign
IGL03279:Stk38 APN 17 29,203,179 (GRCm39) splice site probably benign
R0276:Stk38 UTSW 17 29,211,390 (GRCm39) critical splice donor site probably null
R0611:Stk38 UTSW 17 29,194,907 (GRCm39) missense possibly damaging 0.72
R1554:Stk38 UTSW 17 29,198,206 (GRCm39) missense possibly damaging 0.87
R4583:Stk38 UTSW 17 29,201,130 (GRCm39) missense probably damaging 1.00
R5191:Stk38 UTSW 17 29,193,344 (GRCm39) missense probably benign 0.19
R5686:Stk38 UTSW 17 29,201,103 (GRCm39) missense probably damaging 1.00
R6366:Stk38 UTSW 17 29,193,338 (GRCm39) missense probably benign 0.01
R6468:Stk38 UTSW 17 29,203,086 (GRCm39) missense probably benign 0.35
R6830:Stk38 UTSW 17 29,218,981 (GRCm39) critical splice donor site probably null
R7237:Stk38 UTSW 17 29,193,620 (GRCm39) missense possibly damaging 0.49
R8000:Stk38 UTSW 17 29,211,422 (GRCm39) missense probably benign
R8263:Stk38 UTSW 17 29,203,161 (GRCm39) missense probably damaging 1.00
R8551:Stk38 UTSW 17 29,207,199 (GRCm39) missense probably damaging 1.00
R8805:Stk38 UTSW 17 29,219,094 (GRCm39) missense probably benign 0.00
R9529:Stk38 UTSW 17 29,207,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACAGGATGTGATGGCAAACTTACC -3'
(R):5'- TTATGGGGCACAGCACAGTTGG -3'

Sequencing Primer
(F):5'- GTGATGGCAAACTTACCTGTAAAATG -3'
(R):5'- CACAGCACAGTTGGGTGTAG -3'
Posted On 2013-06-11