Incidental Mutation 'R8454:Stk3'
ID 654955
Institutional Source Beutler Lab
Gene Symbol Stk3
Ensembl Gene ENSMUSG00000022329
Gene Name serine/threonine kinase 3
Synonyms Ste20, 0610042I06Rik, Mst2, MST, mess1
MMRRC Submission 067831-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 34875645-35155990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34876870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 478 (A478T)
Ref Sequence ENSEMBL: ENSMUSP00000018476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018476] [ENSMUST00000067033] [ENSMUST00000226555]
AlphaFold Q9JI10
Predicted Effect probably damaging
Transcript: ENSMUST00000018476
AA Change: A478T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: A478T

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
S_TKc 27 278 4.16e-103 SMART
low complexity region 301 324 N/A INTRINSIC
low complexity region 370 381 N/A INTRINSIC
Pfam:Mst1_SARAH 443 490 9.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067033
AA Change: A408T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: A408T

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 5 205 2.1e-41 PFAM
Pfam:Pkinase 5 208 1.2e-56 PFAM
coiled coil region 217 256 N/A INTRINSIC
low complexity region 300 311 N/A INTRINSIC
Pfam:Mst1_SARAH 372 420 9.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226555
AA Change: A476T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous inactivation of this gene generally results in mice that are viable, fertile and developmentally normal. A small subset of mice homozygous for a knock-out allele develop mammary tumors in the absence of immunological defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,635,103 (GRCm39) G300V possibly damaging Het
Adgrg7 C G 16: 56,616,045 (GRCm39) probably benign Het
Agt G A 8: 125,290,842 (GRCm39) T155M probably benign Het
Atp8b3 A G 10: 80,361,633 (GRCm39) V763A probably benign Het
Btn1a1 C A 13: 23,648,420 (GRCm39) V138L probably benign Het
Cd163 A T 6: 124,305,924 (GRCm39) N1109I probably benign Het
Cideb T A 14: 55,992,598 (GRCm39) Q106L possibly damaging Het
Cntn1 A G 15: 92,130,130 (GRCm39) T126A probably benign Het
Dnai3 T C 3: 145,802,982 (GRCm39) K70E probably damaging Het
Elfn1 T C 5: 139,957,226 (GRCm39) Y77H probably damaging Het
Eml3 A G 19: 8,912,358 (GRCm39) H386R probably damaging Het
Fbxo21 A G 5: 118,133,479 (GRCm39) D413G probably damaging Het
Fkbp8 T A 8: 70,984,413 (GRCm39) probably null Het
Fzd1 T C 5: 4,807,336 (GRCm39) Q82R probably benign Het
Gast T C 11: 100,227,394 (GRCm39) L29P probably benign Het
Glb1l2 C A 9: 26,717,713 (GRCm39) probably benign Het
Gm1110 C G 9: 26,794,576 (GRCm39) Q483H probably benign Het
Gm1110 T A 9: 26,794,577 (GRCm39) Q483L probably benign Het
Gpc6 T C 14: 117,163,391 (GRCm39) L15P probably damaging Het
Hagh C A 17: 25,076,536 (GRCm39) S161* probably null Het
Hrh1 A G 6: 114,457,814 (GRCm39) D365G probably benign Het
Ighv1-36 A T 12: 114,843,560 (GRCm39) M100K probably damaging Het
Itgb8 A T 12: 119,134,513 (GRCm39) V518D probably benign Het
Krt82 T C 15: 101,450,238 (GRCm39) Y486C probably damaging Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Met A G 6: 17,491,768 (GRCm39) S177G probably damaging Het
Myl9 T A 2: 156,623,048 (GRCm39) I162N possibly damaging Het
Npat T A 9: 53,478,251 (GRCm39) N973K possibly damaging Het
Or5p68 A T 7: 107,945,889 (GRCm39) C100S probably damaging Het
Pcdhga12 A T 18: 37,901,190 (GRCm39) D674V possibly damaging Het
Phtf1 T A 3: 103,911,765 (GRCm39) N702K probably damaging Het
Plaa A T 4: 94,457,714 (GRCm39) I752N probably damaging Het
Pnpla2 T C 7: 141,038,011 (GRCm39) C194R probably damaging Het
Rnaseh2a T C 8: 85,691,776 (GRCm39) N133S probably benign Het
Rps6ka1 T A 4: 133,575,864 (GRCm39) Q685L probably benign Het
Ryr1 C A 7: 28,715,142 (GRCm39) G4661C unknown Het
Samd13 T A 3: 146,352,157 (GRCm39) M65L probably benign Het
Sdr42e2 T A 7: 120,430,403 (GRCm39) V420E possibly damaging Het
Sec22c A G 9: 121,524,721 (GRCm39) S21P probably damaging Het
Sh3d19 C A 3: 86,014,329 (GRCm39) T431K probably benign Het
Sin3b A G 8: 73,468,108 (GRCm39) M277V probably benign Het
Sis T C 3: 72,854,834 (GRCm39) T468A possibly damaging Het
Slitrk3 T C 3: 72,956,513 (GRCm39) N753S probably benign Het
Slitrk6 C A 14: 110,989,478 (GRCm39) L76F probably damaging Het
Styxl2 A T 1: 165,935,702 (GRCm39) N165K probably damaging Het
Sugp1 C A 8: 70,524,247 (GRCm39) Y617* probably null Het
Tinag T C 9: 76,938,977 (GRCm39) D167G probably damaging Het
Tk2 A G 8: 104,967,746 (GRCm39) probably null Het
Tmem209 A T 6: 30,489,308 (GRCm39) V514D probably damaging Het
Tmprss9 A G 10: 80,723,320 (GRCm39) H260R probably benign Het
Tnfrsf14 T A 4: 155,011,112 (GRCm39) Y83F possibly damaging Het
Tnfrsf8 A T 4: 145,014,553 (GRCm39) D285E probably benign Het
Togaram2 C G 17: 72,004,873 (GRCm39) A310G probably benign Het
Trpv3 A G 11: 73,182,448 (GRCm39) Y544C probably damaging Het
Ttl T A 2: 128,908,104 (GRCm39) V13D probably damaging Het
Usp40 A T 1: 87,908,694 (GRCm39) D602E probably benign Het
Vamp5 A G 6: 72,347,376 (GRCm39) probably benign Het
Vmn2r65 T A 7: 84,589,402 (GRCm39) H838L possibly damaging Het
Vps35l T A 7: 118,391,795 (GRCm39) F493Y probably benign Het
Zfp960 T A 17: 17,308,461 (GRCm39) Y392N probably benign Het
Other mutations in Stk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Stk3 APN 15 35,114,768 (GRCm39) missense possibly damaging 0.93
IGL02133:Stk3 APN 15 35,099,662 (GRCm39) missense probably damaging 1.00
IGL03121:Stk3 APN 15 35,099,572 (GRCm39) splice site probably benign
IGL03309:Stk3 APN 15 35,099,697 (GRCm39) splice site probably benign
R0276:Stk3 UTSW 15 35,099,615 (GRCm39) missense probably damaging 1.00
R0416:Stk3 UTSW 15 35,114,778 (GRCm39) missense probably benign 0.07
R1352:Stk3 UTSW 15 35,008,371 (GRCm39) missense probably damaging 1.00
R1633:Stk3 UTSW 15 34,959,206 (GRCm39) missense probably damaging 1.00
R1638:Stk3 UTSW 15 35,008,454 (GRCm39) splice site probably null
R1917:Stk3 UTSW 15 35,073,363 (GRCm39) missense probably damaging 1.00
R1919:Stk3 UTSW 15 35,073,363 (GRCm39) missense probably damaging 1.00
R2011:Stk3 UTSW 15 35,072,644 (GRCm39) missense probably damaging 1.00
R2072:Stk3 UTSW 15 34,959,195 (GRCm39) missense possibly damaging 0.79
R2073:Stk3 UTSW 15 34,959,195 (GRCm39) missense possibly damaging 0.79
R2075:Stk3 UTSW 15 34,959,195 (GRCm39) missense possibly damaging 0.79
R3158:Stk3 UTSW 15 35,008,387 (GRCm39) missense possibly damaging 0.83
R3402:Stk3 UTSW 15 34,945,144 (GRCm39) splice site probably benign
R4633:Stk3 UTSW 15 34,959,074 (GRCm39) missense probably damaging 0.99
R4672:Stk3 UTSW 15 35,099,603 (GRCm39) missense probably benign 0.06
R4687:Stk3 UTSW 15 35,114,711 (GRCm39) missense probably damaging 0.99
R4825:Stk3 UTSW 15 35,000,054 (GRCm39) missense probably benign 0.14
R4903:Stk3 UTSW 15 34,959,212 (GRCm39) missense probably damaging 0.99
R5390:Stk3 UTSW 15 35,114,706 (GRCm39) nonsense probably null
R5834:Stk3 UTSW 15 34,959,164 (GRCm39) missense probably damaging 1.00
R7208:Stk3 UTSW 15 35,073,262 (GRCm39) missense possibly damaging 0.76
R7266:Stk3 UTSW 15 34,959,182 (GRCm39) missense probably benign 0.05
R7862:Stk3 UTSW 15 35,115,732 (GRCm39) missense possibly damaging 0.90
R8354:Stk3 UTSW 15 34,876,870 (GRCm39) missense probably damaging 1.00
R8996:Stk3 UTSW 15 34,945,208 (GRCm39) missense possibly damaging 0.51
R9160:Stk3 UTSW 15 35,099,611 (GRCm39) missense probably damaging 0.99
R9366:Stk3 UTSW 15 35,072,634 (GRCm39) missense probably damaging 1.00
R9777:Stk3 UTSW 15 35,114,791 (GRCm39) missense probably damaging 1.00
X0021:Stk3 UTSW 15 35,072,701 (GRCm39) missense probably damaging 1.00
X0060:Stk3 UTSW 15 35,114,679 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTGGAGACAACTGTAAAGTTTGC -3'
(R):5'- GGTGTGGCTCCTTCAGAAAAG -3'

Sequencing Primer
(F):5'- GAGACAACTGTAAAGTTTGCTTTTGG -3'
(R):5'- TTCTTGCTTTAATTGTTGACATGC -3'
Posted On 2020-10-20