Incidental Mutation 'IGL02508:Strada'
ID 296466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strada
Ensembl Gene ENSMUSG00000069631
Gene Name STE20-related kinase adaptor alpha
Synonyms 6030402H20Rik, 2610019A05Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.521) question?
Stock # IGL02508
Quality Score
Status
Chromosome 11
Chromosomal Location 106053739-106084460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106059182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 199 (Y199H)
Ref Sequence ENSEMBL: ENSMUSP00000099361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007444] [ENSMUST00000103072] [ENSMUST00000152008]
AlphaFold Q3UUJ4
Predicted Effect probably benign
Transcript: ENSMUST00000007444
AA Change: Y236H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631
AA Change: Y236H

DomainStartEndE-ValueType
Pfam:Pkinase 69 379 2.4e-37 PFAM
Pfam:Pkinase_Tyr 70 302 2.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103072
AA Change: Y199H

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631
AA Change: Y199H

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 benign
Transcript: ENSMUST00000152008
SMART Domains Protein: ENSMUSP00000115555
Gene: ENSMUSG00000069631

DomainStartEndE-ValueType
Pfam:Pkinase 32 159 7.4e-16 PFAM
Pfam:Pkinase_Tyr 33 159 1.5e-10 PFAM
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 116,870,764 (GRCm39) noncoding transcript Het
Adgrv1 A T 13: 81,583,675 (GRCm39) probably benign Het
AI429214 T G 8: 37,461,240 (GRCm39) D129E probably benign Het
Alx1 G A 10: 102,858,054 (GRCm39) T215M probably damaging Het
Arhgap39 A G 15: 76,609,184 (GRCm39) *1079Q probably null Het
Brca2 T C 5: 150,466,773 (GRCm39) V2179A possibly damaging Het
Cdcp3 A G 7: 130,824,559 (GRCm39) E91G probably damaging Het
Celsr1 G A 15: 85,914,818 (GRCm39) Q1052* probably null Het
Chd5 A G 4: 152,447,481 (GRCm39) E510G probably damaging Het
Cntnap2 A G 6: 46,211,254 (GRCm39) D556G probably damaging Het
Cux2 G A 5: 121,998,885 (GRCm39) P1352S possibly damaging Het
Cyp4a31 A T 4: 115,428,261 (GRCm39) Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 (GRCm39) probably null Het
Dcc C A 18: 71,503,773 (GRCm39) A942S probably benign Het
Dyrk1a A T 16: 94,486,042 (GRCm39) D463V probably damaging Het
Eln T A 5: 134,733,422 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,761,803 (GRCm39) probably null Het
Fndc3b T C 3: 27,512,900 (GRCm39) Y742C probably damaging Het
Furin G A 7: 80,042,269 (GRCm39) T442I probably benign Het
Gli1 T C 10: 127,172,961 (GRCm39) Q155R probably benign Het
Glra3 A G 8: 56,538,179 (GRCm39) E218G probably benign Het
Grb10 C T 11: 11,896,767 (GRCm39) V236M probably damaging Het
Grhl2 T C 15: 37,310,009 (GRCm39) probably benign Het
Hgfac A T 5: 35,204,564 (GRCm39) M579L probably damaging Het
Ifi202b A T 1: 173,802,338 (GRCm39) D165E probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Klk12 T C 7: 43,419,113 (GRCm39) V26A probably benign Het
Lrp2 C T 2: 69,333,774 (GRCm39) G1489D probably benign Het
Lrrtm1 A T 6: 77,221,574 (GRCm39) S344C probably damaging Het
Lzts1 G A 8: 69,593,500 (GRCm39) R36* probably null Het
Mapkap1 T C 2: 34,408,681 (GRCm39) probably benign Het
Meis3 T A 7: 15,912,722 (GRCm39) probably null Het
Mtmr14 T A 6: 113,217,267 (GRCm39) C60S probably damaging Het
Nfkb1 T A 3: 135,296,579 (GRCm39) Y789F probably damaging Het
Nup54 G A 5: 92,565,398 (GRCm39) Q440* probably null Het
Ogdhl T G 14: 32,067,131 (GRCm39) M861R probably damaging Het
Or13c7b T C 4: 43,821,289 (GRCm39) E24G possibly damaging Het
Or4d10 G T 19: 12,051,251 (GRCm39) H248Q possibly damaging Het
Or4k42 C T 2: 111,320,180 (GRCm39) A108T probably damaging Het
Or52w1 A T 7: 105,017,743 (GRCm39) H61L possibly damaging Het
Or6c69b A G 10: 129,626,660 (GRCm39) V266A probably benign Het
Pde6c A G 19: 38,145,948 (GRCm39) K412R probably benign Het
Pex5l T C 3: 33,047,051 (GRCm39) probably benign Het
Pigr A T 1: 130,778,595 (GRCm39) I760L probably benign Het
Pramel28 T C 4: 143,691,590 (GRCm39) N378D probably benign Het
Prr14l G A 5: 32,988,286 (GRCm39) A403V probably benign Het
Prrt3 T C 6: 113,471,268 (GRCm39) D968G probably damaging Het
Psmc5 T C 11: 106,153,869 (GRCm39) I401T possibly damaging Het
Ralyl T A 3: 14,172,332 (GRCm39) probably benign Het
Samd9l T C 6: 3,374,798 (GRCm39) E821G probably damaging Het
Serpinb3a T A 1: 106,973,802 (GRCm39) I370F probably damaging Het
Setd1a A G 7: 127,396,870 (GRCm39) probably benign Het
Slco2a1 T A 9: 102,951,615 (GRCm39) F381L probably benign Het
Stxbp2 T C 8: 3,682,531 (GRCm39) I40T probably damaging Het
Tbx3 T C 5: 119,816,877 (GRCm39) V358A possibly damaging Het
Tenm3 A G 8: 48,752,674 (GRCm39) L896S probably benign Het
Tmem132a A G 19: 10,835,882 (GRCm39) S883P probably damaging Het
Trio A G 15: 27,818,190 (GRCm39) I496T possibly damaging Het
Unc79 C T 12: 103,078,535 (GRCm39) R1548W probably damaging Het
Unc79 T C 12: 103,078,277 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,996,067 (GRCm39) M194V possibly 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
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
R5532:Strada UTSW 11 106,061,843 (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
Posted On 2015-04-16