Incidental Mutation 'R5532:Strada'
ID 436238
Institutional Source Beutler Lab
Gene Symbol Strada
Ensembl Gene ENSMUSG00000069631
Gene Name STE20-related kinase adaptor alpha
Synonyms 6030402H20Rik, 2610019A05Rik
MMRRC Submission 043090-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.521) question?
Stock # R5532 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 106053739-106084460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106061843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 136 (A136E)
Ref Sequence ENSEMBL: ENSMUSP00000115555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007444] [ENSMUST00000103072] [ENSMUST00000152008]
AlphaFold Q3UUJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000007444
AA Change: A173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631
AA Change: A173E

DomainStartEndE-ValueType
Pfam:Pkinase 69 379 2.4e-37 PFAM
Pfam:Pkinase_Tyr 70 302 2.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103072
AA Change: A136E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631
AA Change: A136E

DomainStartEndE-ValueType
Pfam:Pkinase 32 342 2.2e-35 PFAM
Pfam:Pkinase_Tyr 33 266 2.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122989
Predicted Effect probably damaging
Transcript: ENSMUST00000152008
AA Change: A136E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115555
Gene: ENSMUSG00000069631
AA Change: A136E

DomainStartEndE-ValueType
Pfam:Pkinase 32 159 7.4e-16 PFAM
Pfam:Pkinase_Tyr 33 159 1.5e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,293 (GRCm39) probably null Het
Adsl C G 15: 80,848,110 (GRCm39) P118A probably damaging Het
Ano6 C T 15: 95,860,122 (GRCm39) P748L probably damaging Het
Arhgap10 A T 8: 78,146,701 (GRCm39) N234K probably benign Het
Arhgap18 T A 10: 26,722,104 (GRCm39) I25K possibly damaging Het
AW551984 T C 9: 39,508,481 (GRCm39) Y345C probably damaging Het
Ccdc146 A G 5: 21,510,329 (GRCm39) V561A probably benign Het
Cenpv G A 11: 62,418,398 (GRCm39) T185M probably damaging Het
Fat2 T A 11: 55,153,163 (GRCm39) D3683V probably damaging Het
Galns T C 8: 123,311,765 (GRCm39) D415G possibly damaging Het
Gatad2a G A 8: 70,369,070 (GRCm39) T259M probably damaging Het
Gja8 T C 3: 96,827,648 (GRCm39) S5G probably benign Het
Ifi209 T C 1: 173,466,542 (GRCm39) S125P probably damaging Het
Iigp1c A G 18: 60,379,142 (GRCm39) I226V probably benign Het
Il12rb2 G A 6: 67,269,246 (GRCm39) R856W probably damaging Het
Kcnq3 A T 15: 65,869,622 (GRCm39) Y605* probably null Het
Klk1b16 T C 7: 43,790,950 (GRCm39) S251P probably benign Het
Map2 A G 1: 66,453,779 (GRCm39) N890D probably damaging Het
Map4 T A 9: 109,863,746 (GRCm39) S324T probably benign Het
Mmp28 T C 11: 83,333,684 (GRCm39) D419G probably damaging Het
Mtnr1b A G 9: 15,774,210 (GRCm39) L283P probably benign Het
Ndufb7 T A 8: 84,298,063 (GRCm39) Y95N probably damaging Het
Nfrkb C T 9: 31,309,075 (GRCm39) R280W probably damaging Het
Npc1l1 A G 11: 6,174,245 (GRCm39) Y687H probably damaging Het
Or6f1 A C 7: 85,970,879 (GRCm39) F94V possibly damaging Het
Or8b40 C T 9: 38,027,923 (GRCm39) T277I probably benign Het
Or8g51 T C 9: 38,608,943 (GRCm39) T240A probably damaging Het
Or8h9 T A 2: 86,788,924 (GRCm39) R293* probably null Het
Pabpc4l T C 3: 46,401,044 (GRCm39) D200G probably benign Het
Plekhg6 T C 6: 125,349,514 (GRCm39) E361G possibly damaging Het
Pramel31 A T 4: 144,090,061 (GRCm39) D367V probably damaging Het
Rictor A G 15: 6,819,046 (GRCm39) Y1423C probably damaging Het
Rsf1 G A 7: 97,329,902 (GRCm39) D1143N probably damaging Het
Spsb4 C T 9: 96,877,627 (GRCm39) probably null Het
Syce2 A T 8: 85,610,131 (GRCm39) Q73L probably damaging Het
Teddm2 A T 1: 153,726,130 (GRCm39) V195D probably benign Het
Tex36 A T 7: 133,203,712 (GRCm39) N12K probably benign Het
Ubtf A G 11: 102,199,785 (GRCm39) S484P probably benign Het
Ufd1 T G 16: 18,636,680 (GRCm39) L66R probably damaging Het
Vmn2r74 C T 7: 85,601,197 (GRCm39) A814T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly damaging Het
Xrcc1 T A 7: 24,267,353 (GRCm39) probably null Het
Zfp277 A C 12: 40,385,308 (GRCm39) C305G probably damaging Het
Zfp998 A T 13: 66,579,740 (GRCm39) C248S probably damaging Het
Other mutations in Strada
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Strada APN 11 106,061,976 (GRCm39) splice site probably benign
IGL00870:Strada APN 11 106,062,083 (GRCm39) missense probably damaging 1.00
IGL01564:Strada APN 11 106,064,118 (GRCm39) missense probably damaging 1.00
IGL02508:Strada APN 11 106,059,182 (GRCm39) missense probably benign 0.03
IGL02816:Strada APN 11 106,055,251 (GRCm39) unclassified probably benign
IGL03008:Strada APN 11 106,061,783 (GRCm39) missense probably damaging 1.00
IGL03107:Strada APN 11 106,054,863 (GRCm39) unclassified probably benign
R0587:Strada UTSW 11 106,061,790 (GRCm39) missense probably damaging 1.00
R1614:Strada UTSW 11 106,059,145 (GRCm39) missense probably damaging 1.00
R1764:Strada UTSW 11 106,055,010 (GRCm39) missense probably damaging 0.96
R1852:Strada UTSW 11 106,062,047 (GRCm39) missense possibly damaging 0.65
R3772:Strada UTSW 11 106,055,648 (GRCm39) missense probably damaging 0.99
R4329:Strada UTSW 11 106,077,999 (GRCm39) utr 5 prime probably benign
R4538:Strada UTSW 11 106,058,651 (GRCm39) missense probably damaging 1.00
R6102:Strada UTSW 11 106,059,262 (GRCm39) missense probably benign 0.01
R6135:Strada UTSW 11 106,064,140 (GRCm39) missense probably damaging 0.99
R6337:Strada UTSW 11 106,064,143 (GRCm39) missense possibly damaging 0.80
R6773:Strada UTSW 11 106,055,733 (GRCm39) missense probably damaging 0.99
R7155:Strada UTSW 11 106,061,865 (GRCm39) missense probably damaging 1.00
R7509:Strada UTSW 11 106,077,920 (GRCm39) missense unknown
R7552:Strada UTSW 11 106,077,830 (GRCm39) missense unknown
R8510:Strada UTSW 11 106,061,984 (GRCm39) missense probably damaging 1.00
R9262:Strada UTSW 11 106,075,444 (GRCm39) missense probably damaging 1.00
R9630:Strada UTSW 11 106,077,781 (GRCm39) missense unknown
RF015:Strada UTSW 11 106,061,846 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTGGTCCACAGCAGATGTC -3'
(R):5'- CAATATAGTACCGTATCGAGCCACC -3'

Sequencing Primer
(F):5'- GTCCACAGCAGATGTCCCTCAC -3'
(R):5'- CGCAGATAATGAGCTGTGGGTC -3'
Posted On 2016-10-24