Incidental Mutation 'R0416:Stk3'
ID 40348
Institutional Source Beutler Lab
Gene Symbol Stk3
Ensembl Gene ENSMUSG00000022329
Gene Name serine/threonine kinase 3
Synonyms Ste20, 0610042I06Rik, Mst2, MST, mess1
MMRRC Submission 038618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0416 (G1)
Quality Score 206
Status Validated
Chromosome 15
Chromosomal Location 34875645-35155990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35114778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 45 (I45L)
Ref Sequence ENSEMBL: ENSMUSP00000018476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018476] [ENSMUST00000067033] [ENSMUST00000138841] [ENSMUST00000226555]
AlphaFold Q9JI10
Predicted Effect probably benign
Transcript: ENSMUST00000018476
AA Change: I45L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: I45L

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
SMART Domains Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329

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: ENSMUST00000138841
Predicted Effect probably benign
Transcript: ENSMUST00000226555
AA Change: I43L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0822 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 99% (74/75)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,162,779 (GRCm39) I18V probably benign Het
Adamdec1 T G 14: 68,806,161 (GRCm39) E438A possibly damaging Het
Adamts17 A G 7: 66,565,646 (GRCm39) probably null Het
Ankrd44 T G 1: 54,782,498 (GRCm39) I359L possibly damaging Het
Ap2s1 C A 7: 16,481,290 (GRCm39) N86K probably damaging Het
Arih1 T A 9: 59,333,993 (GRCm39) probably benign Het
Astn1 T A 1: 158,337,461 (GRCm39) I389N probably damaging Het
Brca2 T C 5: 150,492,857 (GRCm39) S3291P possibly damaging Het
Cacna1d T C 14: 29,822,645 (GRCm39) probably benign Het
Ccl7 C A 11: 81,936,692 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,486 (GRCm39) Y232F possibly damaging Het
Cep128 A G 12: 91,197,641 (GRCm39) probably benign Het
Cep89 T A 7: 35,115,827 (GRCm39) probably benign Het
Cmya5 T G 13: 93,226,364 (GRCm39) N2908T probably benign Het
Coil T C 11: 88,872,812 (GRCm39) L391S possibly damaging Het
Cpd C T 11: 76,676,030 (GRCm39) V1208I probably benign Het
Ddx19a T C 8: 111,705,689 (GRCm39) D254G probably damaging Het
Desi2 T A 1: 178,083,887 (GRCm39) probably benign Het
Dnah11 A T 12: 117,874,793 (GRCm39) M4024K probably damaging Het
Ergic2 A T 6: 148,084,642 (GRCm39) L53H probably damaging Het
Etv2 T C 7: 30,334,058 (GRCm39) Y225C probably benign Het
F10 G A 8: 13,105,448 (GRCm39) A338T probably damaging Het
Fam228b T A 12: 4,812,382 (GRCm39) D132V probably damaging Het
Fat2 T A 11: 55,174,960 (GRCm39) I1918F possibly damaging Het
Fbxw5 C T 2: 25,393,251 (GRCm39) S214F probably damaging Het
Glyat G A 19: 12,628,817 (GRCm39) R204Q possibly damaging Het
Gm4825 T C 15: 85,395,182 (GRCm39) noncoding transcript Het
Ino80d G T 1: 63,125,435 (GRCm39) T9K possibly damaging Het
Lifr A T 15: 7,196,395 (GRCm39) D193V probably damaging Het
Lrp12 G T 15: 39,742,307 (GRCm39) probably benign Het
Lrp3 A G 7: 34,901,778 (GRCm39) V701A probably benign Het
Mfsd11 T A 11: 116,756,708 (GRCm39) probably benign Het
Mrto4 A T 4: 139,077,043 (GRCm39) probably null Het
Msi1 T C 5: 115,568,708 (GRCm39) F43L possibly damaging Het
Mthfsd T C 8: 121,827,976 (GRCm39) D168G probably damaging Het
Myo15a T A 11: 60,402,000 (GRCm39) V3099E probably damaging Het
Myrf T C 19: 10,193,176 (GRCm39) probably null Het
Nadk C A 4: 155,672,256 (GRCm39) probably benign Het
Nav1 T C 1: 135,398,864 (GRCm39) K573E possibly damaging Het
Ndufs3 A G 2: 90,728,732 (GRCm39) V207A probably damaging Het
Nlrp3 T C 11: 59,446,750 (GRCm39) probably benign Het
Nlrx1 T G 9: 44,174,211 (GRCm39) D330A probably benign Het
Or2a56 G A 6: 42,932,504 (GRCm39) C24Y probably benign Het
Or2t49 T C 11: 58,393,222 (GRCm39) I53M unknown Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pcnx1 A T 12: 82,021,240 (GRCm39) I1410F probably benign Het
Piezo2 G A 18: 63,157,562 (GRCm39) R2383C probably damaging Het
Pip5kl1 A T 2: 32,473,436 (GRCm39) K358* probably null Het
Polg T C 7: 79,101,988 (GRCm39) probably benign Het
Prr14l T A 5: 32,986,061 (GRCm39) I1145F probably benign Het
Psmb1 C T 17: 15,714,781 (GRCm39) V39I probably benign Het
Ptk6 T C 2: 180,844,101 (GRCm39) Y66C possibly damaging Het
Robo4 T C 9: 37,316,062 (GRCm39) probably benign Het
Sdk2 A G 11: 113,694,029 (GRCm39) Y1801H probably damaging Het
Serpinb3a C A 1: 106,977,116 (GRCm39) A95S probably benign Het
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Sik2 A T 9: 50,906,932 (GRCm39) Y98N probably damaging Het
Slc30a1 C T 1: 191,641,838 (GRCm39) P495S probably benign Het
Smg1 A T 7: 117,783,684 (GRCm39) probably benign Het
Tapbp A G 17: 34,144,392 (GRCm39) T163A probably damaging Het
Tdrd5 T C 1: 156,113,051 (GRCm39) K410E probably damaging Het
Trim30b A T 7: 104,012,973 (GRCm39) M152K probably benign Het
Trpm6 G T 19: 18,760,389 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,742,743 (GRCm39) probably benign Het
U2surp A T 9: 95,367,660 (GRCm39) F444I probably damaging Het
Vmn2r95 C T 17: 18,661,664 (GRCm39) P470L probably damaging Het
Zc3h4 T G 7: 16,154,200 (GRCm39) Y163D probably damaging Het
Zfp62 A T 11: 49,106,503 (GRCm39) H198L probably damaging Het
Zmym1 A G 4: 126,952,613 (GRCm39) L56P 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
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
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'- AGGCTCTTTAGTTTTGCCAAGTCAGG -3'
(R):5'- AACCGTAAGTTAGCCTCTTTGCCTC -3'

Sequencing Primer
(F):5'- TTTTGCCAAGTCAGGAAAAAAAC -3'
(R):5'- CATAAGAAAATAGCAGCTCACTGTG -3'
Posted On 2013-05-23