Incidental Mutation 'P0047:Stradb'
ID 7830
Institutional Source Beutler Lab
Gene Symbol Stradb
Ensembl Gene ENSMUSG00000026027
Gene Name STE20-related kinase adaptor beta
Synonyms PRO1038, D1Ucla2, Als2cr2
MMRRC Submission 038294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0047 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 59012681-59034281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59028957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 142 (G142S)
Ref Sequence ENSEMBL: ENSMUSP00000109935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027185] [ENSMUST00000114296] [ENSMUST00000123301] [ENSMUST00000153990]
AlphaFold Q8K4T3
Predicted Effect probably null
Transcript: ENSMUST00000027185
AA Change: G142S

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: G142S

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 58 290 3.2e-26 PFAM
Pfam:Pkinase 58 369 7.9e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114296
AA Change: G142S

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: G142S

DomainStartEndE-ValueType
Pfam:Pkinase 58 185 1.1e-16 PFAM
Pfam:Pkinase_Tyr 58 188 1.3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123301
AA Change: G142S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: G142S

DomainStartEndE-ValueType
Pfam:Pkinase 58 184 2.7e-17 PFAM
Pfam:Pkinase_Tyr 58 185 1.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147637
Predicted Effect probably null
Transcript: ENSMUST00000152318
Predicted Effect probably benign
Transcript: ENSMUST00000153990
Meta Mutation Damage Score 0.8182 question?
Coding Region Coverage
  • 1x: 81.2%
  • 3x: 73.1%
  • 10x: 47.2%
  • 20x: 24.0%
Validation Efficiency 83% (73/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap20 T C 9: 51,760,536 (GRCm39) S760P probably damaging Het
Cenatac T A 9: 44,324,506 (GRCm39) probably benign Het
Defa22 C A 8: 21,653,102 (GRCm39) C71* probably null Het
Fanci A G 7: 79,093,792 (GRCm39) D1048G probably damaging Het
Kmt5b T A 19: 3,843,223 (GRCm39) probably benign Het
Nol8 T A 13: 49,807,824 (GRCm39) probably null Het
Nvl T C 1: 180,939,867 (GRCm39) T628A probably damaging Het
Pgm5 T A 19: 24,793,785 (GRCm39) D293V probably damaging Het
Pms2 A G 5: 143,856,416 (GRCm39) D7G probably damaging Het
Srrm3 G A 5: 135,881,780 (GRCm39) probably null Het
Txndc11 C T 16: 10,909,661 (GRCm39) probably benign Het
Other mutations in Stradb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Stradb APN 1 59,027,688 (GRCm39) missense probably damaging 0.98
IGL00843:Stradb APN 1 59,033,568 (GRCm39) missense probably benign
IGL01288:Stradb APN 1 59,031,460 (GRCm39) missense possibly damaging 0.61
IGL02045:Stradb APN 1 59,028,937 (GRCm39) missense probably damaging 1.00
IGL02818:Stradb APN 1 59,019,121 (GRCm39) missense probably damaging 0.99
R0739:Stradb UTSW 1 59,016,174 (GRCm39) unclassified probably benign
R0970:Stradb UTSW 1 59,016,219 (GRCm39) missense possibly damaging 0.92
R1809:Stradb UTSW 1 59,033,549 (GRCm39) missense possibly damaging 0.54
R1930:Stradb UTSW 1 59,030,264 (GRCm39) missense probably benign 0.07
R1931:Stradb UTSW 1 59,030,264 (GRCm39) missense probably benign 0.07
R1932:Stradb UTSW 1 59,030,264 (GRCm39) missense probably benign 0.07
R2570:Stradb UTSW 1 59,027,743 (GRCm39) missense probably damaging 1.00
R2919:Stradb UTSW 1 59,031,828 (GRCm39) missense probably benign 0.44
R3104:Stradb UTSW 1 59,031,450 (GRCm39) missense possibly damaging 0.86
R3105:Stradb UTSW 1 59,031,450 (GRCm39) missense possibly damaging 0.86
R3106:Stradb UTSW 1 59,031,450 (GRCm39) missense possibly damaging 0.86
R3772:Stradb UTSW 1 59,024,544 (GRCm39) missense probably benign 0.04
R4120:Stradb UTSW 1 59,019,168 (GRCm39) missense possibly damaging 0.92
R4417:Stradb UTSW 1 59,033,531 (GRCm39) missense probably benign
R4569:Stradb UTSW 1 59,019,117 (GRCm39) nonsense probably null
R4601:Stradb UTSW 1 59,032,731 (GRCm39) missense probably damaging 0.98
R4758:Stradb UTSW 1 59,027,730 (GRCm39) missense probably benign 0.02
R4786:Stradb UTSW 1 59,030,367 (GRCm39) intron probably benign
R4944:Stradb UTSW 1 59,019,599 (GRCm39) missense probably benign 0.27
R5113:Stradb UTSW 1 59,030,333 (GRCm39) intron probably benign
R5568:Stradb UTSW 1 59,031,901 (GRCm39) missense possibly damaging 0.72
R5765:Stradb UTSW 1 59,031,903 (GRCm39) missense probably benign 0.31
R5970:Stradb UTSW 1 59,019,175 (GRCm39) critical splice donor site probably null
R6234:Stradb UTSW 1 59,027,707 (GRCm39) missense probably damaging 1.00
R7411:Stradb UTSW 1 59,027,677 (GRCm39) missense possibly damaging 0.95
R7511:Stradb UTSW 1 59,032,108 (GRCm39) missense probably damaging 0.97
R7569:Stradb UTSW 1 59,030,310 (GRCm39) missense unknown
R7575:Stradb UTSW 1 59,027,739 (GRCm39) missense probably benign 0.00
R7646:Stradb UTSW 1 59,033,567 (GRCm39) missense probably benign 0.14
R7658:Stradb UTSW 1 59,031,885 (GRCm39) missense probably damaging 0.96
R8306:Stradb UTSW 1 59,030,356 (GRCm39) missense unknown
R8812:Stradb UTSW 1 59,033,478 (GRCm39) missense probably benign 0.16
Z1176:Stradb UTSW 1 59,032,158 (GRCm39) missense probably damaging 1.00
Posted On 2012-10-29