Incidental Mutation 'R9529:Stk38'
ID 719417
Institutional Source Beutler Lab
Gene Symbol Stk38
Ensembl Gene ENSMUSG00000024006
Gene Name serine/threonine kinase 38
Synonyms 5830476G13Rik, Ndr1, 9530097A09Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.516) question?
Stock # R9529 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29189854-29226969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29207210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 111 (T111I)
Ref Sequence ENSEMBL: ENSMUSP00000009138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009138] [ENSMUST00000119274]
AlphaFold Q91VJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000009138
AA Change: T111I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009138
Gene: ENSMUSG00000024006
AA Change: T111I

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 damaging
Transcript: ENSMUST00000119274
AA Change: T111I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113657
Gene: ENSMUSG00000024006
AA Change: T111I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A C 5: 113,331,682 (GRCm39) L844R possibly damaging Het
Aadacl4fm2 A G 4: 144,282,082 (GRCm39) Y237H probably benign Het
Abca8a A T 11: 109,947,167 (GRCm39) Y1036* probably null Het
Abcg3 T C 5: 105,121,973 (GRCm39) T135A probably damaging Het
Arhgef28 G A 13: 98,213,773 (GRCm39) A30V probably damaging Het
Cald1 T A 6: 34,662,947 (GRCm39) D3E probably damaging Het
Ccdc89 T A 7: 90,076,573 (GRCm39) L261Q probably damaging Het
Ceacam1 T C 7: 25,171,231 (GRCm39) D411G possibly damaging Het
Chil4 T A 3: 106,118,656 (GRCm39) N87Y probably damaging Het
Ciita T A 16: 10,328,640 (GRCm39) L308Q probably benign Het
Clptm1 T C 7: 19,371,600 (GRCm39) I278V probably benign Het
Col5a3 A T 9: 20,685,308 (GRCm39) probably null Het
Ddost T A 4: 138,038,780 (GRCm39) D336E probably benign Het
Dnah7a T C 1: 53,561,495 (GRCm39) Y2054C probably damaging Het
Erc2 T A 14: 28,197,723 (GRCm39) L1000H unknown Het
Fhip2b T C 14: 70,822,579 (GRCm39) E714G probably damaging Het
Gdpd4 T C 7: 97,610,793 (GRCm39) V71A possibly damaging Het
Hmcn1 A G 1: 150,545,175 (GRCm39) Y2811H probably damaging Het
Hmox2 C T 16: 4,582,818 (GRCm39) Q184* probably null Het
Igkv9-124 G T 6: 67,919,280 (GRCm39) T44N probably benign Het
Kmt2d G A 15: 98,737,649 (GRCm39) T5149I unknown Het
Lamb2 T A 9: 108,363,477 (GRCm39) D885E probably benign Het
Macf1 A G 4: 123,407,680 (GRCm39) S220P probably damaging Het
Muc2 A T 7: 141,287,453 (GRCm39) T211S possibly damaging Het
Mup13 A T 4: 61,184,117 (GRCm39) C15S possibly damaging Het
Myh3 T C 11: 66,979,556 (GRCm39) probably null Het
Nek10 A G 14: 14,850,833 (GRCm38) I293V probably benign Het
Or10d3 G A 9: 39,461,723 (GRCm39) T148I probably benign Het
Or2a52 T A 6: 43,144,432 (GRCm39) S147T possibly damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Pdss2 G A 10: 43,269,990 (GRCm39) V278I probably benign Het
Prex1 T C 2: 166,431,518 (GRCm39) K748R probably damaging Het
Ptprb A G 10: 116,174,519 (GRCm39) probably null Het
Ranbp17 G A 11: 33,424,826 (GRCm39) S510L unknown Het
Rp1 T A 1: 4,416,447 (GRCm39) H1555L probably benign Het
Rsph6a A G 7: 18,799,535 (GRCm39) K389E probably benign Het
Ryk T C 9: 102,746,518 (GRCm39) V151A probably benign Het
Ryr3 T A 2: 112,465,660 (GRCm39) N4838I possibly damaging Het
Sbno1 G A 5: 124,517,413 (GRCm39) R1233* probably null Het
Scn2a A T 2: 65,594,932 (GRCm39) K1927M probably damaging Het
Sec22c A T 9: 121,513,860 (GRCm39) I259N probably damaging Het
Slc6a15 A T 10: 103,240,583 (GRCm39) D402V probably benign Het
Tmem237 G A 1: 59,147,215 (GRCm39) T306I probably damaging Het
Tmprss11a T C 5: 86,576,501 (GRCm39) K117E probably benign Het
Tmprss9 A T 10: 80,730,640 (GRCm39) D722V probably damaging Het
Trpc1 T C 9: 95,592,250 (GRCm39) Y575C probably damaging Het
Ube2d2b A G 5: 107,978,438 (GRCm39) M30V probably benign Het
Usp36 A T 11: 118,159,461 (GRCm39) L661* probably null Het
Vmn2r13 G T 5: 109,304,064 (GRCm39) T789N probably damaging Het
Vmn2r5 T C 3: 64,400,018 (GRCm39) T550A probably benign Het
Xirp2 T C 2: 67,355,540 (GRCm39) S3434P possibly damaging Het
Zfp106 A G 2: 120,351,007 (GRCm39) V1571A probably damaging Het
Zfp438 A G 18: 5,213,501 (GRCm39) S486P possibly damaging Het
Zfp616 A G 11: 73,975,660 (GRCm39) H643R probably damaging Het
Zfp616 A G 11: 73,976,596 (GRCm39) K955R possibly damaging 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
R0029:Stk38 UTSW 17 29,201,112 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- CAGCCTGGACTGTGAAACAC -3'
(R):5'- AGTCTTCTCATCGCTGTCACAG -3'

Sequencing Primer
(F):5'- CTTACAGATGGTTGTGAGCCACC -3'
(R):5'- CTGTCACAGCTGTATAGTAGATTTG -3'
Posted On 2022-07-18