Incidental Mutation 'R1633:Stk3'
ID 172942
Institutional Source Beutler Lab
Gene Symbol Stk3
Ensembl Gene ENSMUSG00000022329
Gene Name serine/threonine kinase 3
Synonyms Ste20, 0610042I06Rik, Mst2, MST, mess1
MMRRC Submission 039670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1633 (G1)
Quality Score 177
Status Validated
Chromosome 15
Chromosomal Location 34875645-35155990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34959206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 322 (D322G)
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: D322G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018476
Gene: ENSMUSG00000022329
AA Change: D322G

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: D252G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064225
Gene: ENSMUSG00000022329
AA Change: D252G

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 possibly damaging
Transcript: ENSMUST00000226555
AA Change: D320G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226730
Meta Mutation Damage Score 0.1286 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 83.9%
Validation Efficiency 94% (68/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,681,592 (GRCm39) A185V probably benign Het
Acsl6 T C 11: 54,219,224 (GRCm39) probably benign Het
Arel1 A G 12: 84,973,057 (GRCm39) F580S probably damaging Het
Arhgef19 T C 4: 140,965,871 (GRCm39) probably benign Het
Bpifb3 T A 2: 153,764,504 (GRCm39) L132Q probably damaging Het
Cacna2d1 T A 5: 16,525,114 (GRCm39) D516E probably damaging Het
Ccar1 T C 10: 62,586,793 (GRCm39) R882G unknown Het
Cep162 T C 9: 87,085,736 (GRCm39) E1196G probably benign Het
Cpt1b T C 15: 89,303,018 (GRCm39) T649A probably damaging Het
Cttnbp2 A T 6: 18,435,166 (GRCm39) S231T probably damaging Het
Dock8 A G 19: 25,028,927 (GRCm39) T44A probably benign Het
Edrf1 T C 7: 133,253,869 (GRCm39) S536P probably damaging Het
Eif5 T A 12: 111,506,721 (GRCm39) N104K probably damaging Het
Enpp3 T C 10: 24,671,680 (GRCm39) Y438C probably damaging Het
Ess2 A G 16: 17,727,831 (GRCm39) V116A probably benign Het
Galnt4 T C 10: 98,945,814 (GRCm39) V513A possibly damaging Het
Gdpd5 T C 7: 99,097,720 (GRCm39) I172T probably benign Het
Ggt7 C T 2: 155,344,608 (GRCm39) G245D probably damaging Het
Gm5884 A T 6: 128,623,028 (GRCm39) noncoding transcript Het
Herc2 G A 7: 55,879,117 (GRCm39) G4669R probably null Het
Hydin T A 8: 111,233,614 (GRCm39) D1817E probably benign Het
Igf2r A C 17: 12,945,196 (GRCm39) N359K probably benign Het
Itgb4 T C 11: 115,898,586 (GRCm39) F1722L probably damaging Het
Itih3 T A 14: 30,639,355 (GRCm39) E406V possibly damaging Het
Lamc2 A T 1: 153,017,444 (GRCm39) C514* probably null Het
Mepe G T 5: 104,485,540 (GRCm39) V227F probably benign Het
Nadk C T 4: 155,661,642 (GRCm39) T56I probably damaging Het
Nedd4 G A 9: 72,578,539 (GRCm39) V84I possibly damaging Het
Nipal3 C A 4: 135,174,659 (GRCm39) R364L probably benign Het
Nkx2-9 T C 12: 56,659,766 (GRCm39) R27G probably benign Het
Noc2l T A 4: 156,329,750 (GRCm39) S600T probably benign Het
Or1l4b T A 2: 37,036,983 (GRCm39) I253N probably damaging Het
Or1o3 T A 17: 37,574,553 (GRCm39) M1L probably benign Het
Or2c1 A C 16: 3,657,396 (GRCm39) K186N probably damaging Het
Pax6 A T 2: 105,522,063 (GRCm39) E240V probably damaging Het
Pdilt T G 7: 119,087,217 (GRCm39) T478P probably damaging Het
Phldb1 T A 9: 44,629,619 (GRCm39) I25F probably damaging Het
Rad50 C T 11: 53,583,686 (GRCm39) R365Q probably benign Het
Rdh10 A G 1: 16,198,420 (GRCm39) E186G possibly damaging Het
Rdh12 A T 12: 79,265,498 (GRCm39) E224V probably damaging Het
Reck T C 4: 43,922,964 (GRCm39) V413A possibly damaging Het
Scn8a A G 15: 100,927,696 (GRCm39) I1392V probably benign Het
Simc1 G A 13: 54,673,044 (GRCm39) G464D probably benign Het
Srf A T 17: 46,862,534 (GRCm39) V318E probably damaging Het
Stab1 T C 14: 30,872,337 (GRCm39) probably null Het
Stxbp4 A G 11: 90,430,986 (GRCm39) probably benign Het
Sult2a1 A G 7: 13,535,351 (GRCm39) I234T probably benign Het
Syne1 A G 10: 5,299,388 (GRCm39) F956L probably damaging Het
Tasor2 A T 13: 3,631,771 (GRCm39) I910N possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tmem63a T A 1: 180,776,391 (GRCm39) V67E probably damaging Het
Tram2 A T 1: 21,074,146 (GRCm39) V264E probably damaging Het
Trpv5 A T 6: 41,652,854 (GRCm39) C106* probably null Het
Tspyl5 T A 15: 33,686,791 (GRCm39) K385* probably null Het
Vezt T A 10: 93,820,138 (GRCm39) Q409L probably damaging Het
Vmn2r79 T C 7: 86,687,042 (GRCm39) C808R possibly damaging Het
Wdfy3 A C 5: 102,129,414 (GRCm39) V4G probably damaging Het
Wdr95 A T 5: 149,516,637 (GRCm39) I493F probably damaging Het
Zfhx4 A T 3: 5,465,473 (GRCm39) N1877I probably damaging Het
Zfp180 A G 7: 23,804,226 (GRCm39) D215G probably benign Het
Zfp442 A T 2: 150,250,260 (GRCm39) Y490* probably null Het
Zfp804b A G 5: 7,229,513 (GRCm39) 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
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'- TTTCATAGTTCCGtcctcctcctcc -3'
(R):5'- CGGCCTAatccatattgcagcacag -3'

Sequencing Primer
(F):5'- cctcctcctcctcctcttc -3'
(R):5'- atagcatatcttgctttttgctttc -3'
Posted On 2014-04-24