Incidental Mutation 'R5191:Stk38'
ID 398213
Institutional Source Beutler Lab
Gene Symbol Stk38
Ensembl Gene ENSMUSG00000024006
Gene Name serine/threonine kinase 38
Synonyms 5830476G13Rik, Ndr1, 9530097A09Rik
MMRRC Submission 043263-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R5191 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 29189854-29226969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 29193344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 362 (C362G)
Ref Sequence ENSEMBL: ENSMUSP00000113657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009138] [ENSMUST00000118762] [ENSMUST00000119274]
AlphaFold Q91VJ4
Predicted Effect probably benign
Transcript: ENSMUST00000009138
AA Change: C362G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000009138
Gene: ENSMUSG00000024006
AA Change: C362G

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: ENSMUST00000118762
SMART Domains Protein: ENSMUSP00000112890
Gene: ENSMUSG00000005936

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
BTB 46 151 1.77e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119274
AA Change: C362G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113657
Gene: ENSMUSG00000024006
AA Change: C362G

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: ENSMUST00000126671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156732
Meta Mutation Damage Score 0.2913 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (69/69)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A G 15: 101,034,946 (GRCm39) E235G probably damaging Het
Adam26b T C 8: 43,973,028 (GRCm39) D658G probably damaging Het
Adamts12 A G 15: 11,327,843 (GRCm39) R1407G probably benign Het
Aknad1 T C 3: 108,659,306 (GRCm39) S107P probably benign Het
Aknad1 G A 3: 108,659,867 (GRCm39) V294I probably benign Het
Arfgef2 A G 2: 166,718,431 (GRCm39) T1407A probably damaging Het
Atp5f1a C T 18: 77,867,929 (GRCm39) P318S probably damaging Het
Atp9a C T 2: 168,503,983 (GRCm39) V494M possibly damaging Het
Ccdc69 A T 11: 54,943,719 (GRCm39) probably null Het
Crh T C 3: 19,748,093 (GRCm39) E183G probably damaging Het
Cyp2c40 A C 19: 39,791,035 (GRCm39) N265K probably damaging Het
D630003M21Rik C T 2: 158,042,955 (GRCm39) A862T probably benign Het
Dact3 T G 7: 16,609,375 (GRCm39) V9G probably damaging Het
Dnaaf9 A T 2: 130,579,323 (GRCm39) I638N possibly damaging Het
Dnah8 A G 17: 30,965,739 (GRCm39) E2357G probably damaging Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Etl4 G T 2: 20,344,810 (GRCm39) S38I probably damaging Het
Fyb2 G T 4: 104,852,994 (GRCm39) C558F possibly damaging Het
Galnt3 T C 2: 65,924,050 (GRCm39) E406G probably damaging Het
Golga3 T A 5: 110,332,173 (GRCm39) probably benign Het
Gpr179 T A 11: 97,228,975 (GRCm39) Q1060L possibly damaging Het
Havcr1 A T 11: 46,647,024 (GRCm39) I153F probably benign Het
Hnrnpc A T 14: 52,314,964 (GRCm39) V141E probably damaging Het
Kcnj2 C T 11: 110,963,297 (GRCm39) Q230* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Limch1 T C 5: 67,184,904 (GRCm39) L631P probably damaging Het
Lpin1 T C 12: 16,630,829 (GRCm39) N23S possibly damaging Het
Macf1 A G 4: 123,366,755 (GRCm39) S1104P probably benign Het
Man2b1 A G 8: 85,811,088 (GRCm39) D73G probably damaging Het
Marf1 A G 16: 13,963,942 (GRCm39) F454L probably damaging Het
Mcpt4 T A 14: 56,298,466 (GRCm39) I90L probably benign Het
Mfsd4b5 T C 10: 39,846,668 (GRCm39) E304G probably damaging Het
Mst1r G A 9: 107,788,750 (GRCm39) R423H probably damaging Het
Muc20 G A 16: 32,614,846 (GRCm39) S177L unknown Het
Muc5b A G 7: 141,412,276 (GRCm39) T1741A unknown Het
Myo1g C T 11: 6,465,105 (GRCm39) A447T probably benign Het
Nr1h2 C A 7: 44,199,840 (GRCm39) A360S probably damaging Het
Nufip1 A G 14: 76,349,429 (GRCm39) K154E probably damaging Het
Or12k8 T G 2: 36,974,990 (GRCm39) M257L probably benign Het
Or2a54 T A 6: 43,092,800 (GRCm39) N41K probably damaging Het
Or7e166 G A 9: 19,624,630 (GRCm39) C169Y probably damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pkd2 G A 5: 104,634,547 (GRCm39) R526Q probably benign Het
Plec T C 15: 76,059,365 (GRCm39) E3551G probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sarm1 G A 11: 78,387,945 (GRCm39) Q114* probably null Het
Sec31a T C 5: 100,553,370 (GRCm39) E112G possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc9a2 G T 1: 40,783,053 (GRCm39) R439L probably damaging Het
Sptb C A 12: 76,659,608 (GRCm39) E1097D probably benign Het
Stmn2 A T 3: 8,610,635 (GRCm39) M40L probably benign Het
Sytl2 A T 7: 90,024,860 (GRCm39) T283S probably damaging Het
Tcf4 A G 18: 69,775,954 (GRCm39) S48G probably damaging Het
Tlr4 A T 4: 66,759,616 (GRCm39) H803L probably damaging Het
Ttn C T 2: 76,709,432 (GRCm39) probably benign Het
Tyk2 G T 9: 21,018,793 (GRCm39) Q1099K probably damaging Het
Usp30 C T 5: 114,203,755 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,447 (GRCm39) V60A possibly damaging Het
Zc3h12d C A 10: 7,743,582 (GRCm39) P451T possibly damaging Het
Zeb2 T C 2: 44,892,612 (GRCm39) S146G probably benign Het
Zfp236 T A 18: 82,639,548 (GRCm39) N1233I probably damaging Het
Zfp954 A G 7: 7,119,022 (GRCm39) V174A probably damaging Het
Zswim1 G A 2: 164,667,939 (GRCm39) S397N 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
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
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'- ACTCTTTCCGAAATCGTAATCCAC -3'
(R):5'- GCAGAGTGAGCATCTTCCATG -3'

Sequencing Primer
(F):5'- GCTTGGACTATATGAGACCCAGTC -3'
(R):5'- CCATGCTCATCCTTGGGATTGG -3'
Posted On 2016-07-06