Incidental Mutation 'IGL00778:Strada'
ID14281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Strada
Ensembl Gene ENSMUSG00000069631
Gene NameSTE20-related kinase adaptor alpha
Synonyms2610019A05Rik, 6030402H20Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.541) question?
Stock #IGL00778
Quality Score
Status
Chromosome11
Chromosomal Location106163330-106202168 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 106171150 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007444] [ENSMUST00000103072] [ENSMUST00000152008]
Predicted Effect probably benign
Transcript: ENSMUST00000007444
SMART Domains Protein: ENSMUSP00000007444
Gene: ENSMUSG00000069631

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
SMART Domains Protein: ENSMUSP00000099361
Gene: ENSMUSG00000069631

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Strada
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Strada APN 11 106171257 missense probably damaging 1.00
IGL01564:Strada APN 11 106173292 missense probably damaging 1.00
IGL02508:Strada APN 11 106168356 missense probably benign 0.03
IGL02816:Strada APN 11 106164425 unclassified probably benign
IGL03008:Strada APN 11 106170957 missense probably damaging 1.00
IGL03107:Strada APN 11 106164037 unclassified probably benign
R0587:Strada UTSW 11 106170964 missense probably damaging 1.00
R1614:Strada UTSW 11 106168319 missense probably damaging 1.00
R1764:Strada UTSW 11 106164184 missense probably damaging 0.96
R1852:Strada UTSW 11 106171221 missense possibly damaging 0.65
R3772:Strada UTSW 11 106164822 missense probably damaging 0.99
R4329:Strada UTSW 11 106187173 utr 5 prime probably benign
R4538:Strada UTSW 11 106167825 missense probably damaging 1.00
R5532:Strada UTSW 11 106171017 missense probably damaging 1.00
R6102:Strada UTSW 11 106168436 missense probably benign 0.01
R6135:Strada UTSW 11 106173314 missense probably damaging 0.99
R6337:Strada UTSW 11 106173317 missense possibly damaging 0.80
R6773:Strada UTSW 11 106164907 missense probably damaging 0.99
R7155:Strada UTSW 11 106171039 missense probably damaging 1.00
R7509:Strada UTSW 11 106187094 missense unknown
R7552:Strada UTSW 11 106187004 missense unknown
R8510:Strada UTSW 11 106171158 missense probably damaging 1.00
RF015:Strada UTSW 11 106171020 missense probably damaging 0.98
Posted On2012-12-06