Incidental Mutation 'R2072:Stk3'
ID 227265
Institutional Source Beutler Lab
Gene Symbol Stk3
Ensembl Gene ENSMUSG00000022329
Gene Name serine/threonine kinase 3
Synonyms Ste20, 0610042I06Rik, Mst2, MST, mess1
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 34875645-35155990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34959195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 256 (M256V)
Ref Sequence ENSEMBL: ENSMUSP00000064225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018476] [ENSMUST00000067033] [ENSMUST00000226555]
AlphaFold Q9JI10
Predicted Effect probably benign
Transcript: ENSMUST00000018476
AA Change: M326V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: M326V

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 possibly damaging
Transcript: ENSMUST00000067033
AA Change: M256V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: M256V

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 noncoding transcript
Transcript: ENSMUST00000128425
Predicted Effect probably benign
Transcript: ENSMUST00000226555
AA Change: M324V

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226730
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 64,056,080 (GRCm39) R272P possibly damaging Het
Ablim3 A T 18: 61,990,159 (GRCm39) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Adamts13 C A 2: 26,895,437 (GRCm39) T1176N probably benign Het
Adgre5 T C 8: 84,454,433 (GRCm39) T357A probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankrd33 T C 15: 101,017,517 (GRCm39) V310A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bnipl C T 3: 95,151,522 (GRCm39) G232E probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Cacna1s G A 1: 136,007,242 (GRCm39) V173I probably benign Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chrdl1 T C X: 142,086,414 (GRCm39) I231V probably benign Het
Ciita C T 16: 10,336,217 (GRCm39) T958I probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Dcaf15 T C 8: 84,828,370 (GRCm39) D240G probably damaging Het
Dlgap1 C T 17: 70,969,765 (GRCm39) R524C probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsg1c A G 18: 20,408,309 (GRCm39) M453V probably benign Het
Ednrb G T 14: 104,054,535 (GRCm39) N432K probably benign Het
Fcgbp G A 7: 27,819,814 (GRCm39) G2514S probably damaging Het
Fez1 A G 9: 36,779,241 (GRCm39) K306R probably benign Het
Fmo4 A G 1: 162,637,456 (GRCm39) V12A probably benign Het
Fpgt T C 3: 154,793,511 (GRCm39) Y172C probably damaging Het
Fsip2 T A 2: 82,839,159 (GRCm39) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm39) R205* probably null Het
Grik5 A T 7: 24,714,738 (GRCm39) M752K possibly damaging Het
Herc2 A G 7: 55,876,712 (GRCm39) N4516S probably damaging Het
Ifrd2 A T 9: 107,469,744 (GRCm39) D439V probably damaging Het
Igsf3 A G 3: 101,346,831 (GRCm39) T609A probably benign Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Lgi2 A G 5: 52,695,847 (GRCm39) S371P probably damaging Het
Marchf3 A T 18: 56,944,925 (GRCm39) V56E possibly damaging Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nlrp2 A G 7: 5,328,005 (GRCm39) S683P probably damaging Het
Onecut3 T G 10: 80,330,848 (GRCm39) L3V unknown Het
Or12j2 T C 7: 139,916,566 (GRCm39) S264P possibly damaging Het
Or4c35 C A 2: 89,808,557 (GRCm39) T145K probably benign Het
Or5b102 A T 19: 13,041,044 (GRCm39) M90L probably benign Het
Otogl C T 10: 107,616,904 (GRCm39) C1791Y probably damaging Het
Paip1 T C 13: 119,566,798 (GRCm39) V128A possibly damaging Het
Pcnx2 A T 8: 126,488,481 (GRCm39) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plxnb2 G T 15: 89,042,654 (GRCm39) R1545S probably damaging Het
Ppp4c T C 7: 126,386,520 (GRCm39) probably null Het
Prune1 C T 3: 95,162,719 (GRCm39) R318Q probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Psg27 A G 7: 18,298,934 (GRCm39) L129P probably benign Het
Psmc6 A G 14: 45,567,323 (GRCm39) K7E possibly damaging Het
Reln A T 5: 22,124,175 (GRCm39) V2777E probably damaging Het
Rigi A T 4: 40,224,069 (GRCm39) probably null Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Smarcd2 A T 11: 106,156,133 (GRCm39) L42* probably null Het
Smg1 T C 7: 117,762,389 (GRCm39) probably benign Het
Smurf2 T A 11: 106,732,595 (GRCm39) Q335L probably benign Het
Sspo A T 6: 48,450,451 (GRCm39) H2580L probably benign Het
Syt1 A G 10: 108,419,833 (GRCm39) I276T probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar9 A T 10: 23,984,877 (GRCm39) C186S probably damaging Het
Tnrc6b C T 15: 80,767,166 (GRCm39) P977L possibly damaging Het
Trp53bp2 A G 1: 182,286,432 (GRCm39) T1091A probably benign Het
Ttn G T 2: 76,768,120 (GRCm39) T2947N probably damaging Het
Ube2q1 T C 3: 89,686,878 (GRCm39) probably null Het
Ube3c A G 5: 29,840,638 (GRCm39) E671G probably benign Het
Upf3a A G 8: 13,835,850 (GRCm39) K56R possibly damaging Het
Vmn2r15 A T 5: 109,434,619 (GRCm39) M695K possibly damaging Het
Vmn2r3 A T 3: 64,182,493 (GRCm39) M402K possibly damaging Het
Zfp354b T A 11: 50,813,279 (GRCm39) R549* probably null Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp747 T A 7: 126,973,142 (GRCm39) T343S possibly damaging Het
Zfp853 T A 5: 143,275,137 (GRCm39) Q161L unknown 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
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
R8454: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'- TCAGAGAGAAAGGGCTCCATAC -3'
(R):5'- TCAGCTATCTTCAAGAGGTCTTTG -3'

Sequencing Primer
(F):5'- CAGAGAGAAAGGGCTCCATACTTTTC -3'
(R):5'- ACTTACCCAGAATTCTAGTTGCAAGG -3'
Posted On 2014-09-17