Incidental Mutation 'IGL02818:Stradb'
ID 360872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stradb
Ensembl Gene ENSMUSG00000026027
Gene Name STE20-related kinase adaptor beta
Synonyms PRO1038, D1Ucla2, Als2cr2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02818
Quality Score
Status
Chromosome 1
Chromosomal Location 59012681-59034281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59019121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 14 (V14A)
Ref Sequence ENSEMBL: ENSMUSP00000138036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027185] [ENSMUST00000114296] [ENSMUST00000123301] [ENSMUST00000153990]
AlphaFold Q8K4T3
Predicted Effect probably damaging
Transcript: ENSMUST00000027185
AA Change: V14A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027185
Gene: ENSMUSG00000026027
AA Change: V14A

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 58 290 3.2e-26 PFAM
Pfam:Pkinase 58 369 7.9e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114296
AA Change: V14A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109935
Gene: ENSMUSG00000026027
AA Change: V14A

DomainStartEndE-ValueType
Pfam:Pkinase 58 185 1.1e-16 PFAM
Pfam:Pkinase_Tyr 58 188 1.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123301
AA Change: V14A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138036
Gene: ENSMUSG00000026027
AA Change: V14A

DomainStartEndE-ValueType
Pfam:Pkinase 58 184 2.7e-17 PFAM
Pfam:Pkinase_Tyr 58 185 1.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147637
Predicted Effect possibly damaging
Transcript: ENSMUST00000153990
AA Change: V14A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,519,326 (GRCm39) F653S probably benign Het
Acsm2 A G 7: 119,172,804 (GRCm39) probably null Het
Aldh2 C T 5: 121,713,188 (GRCm39) G256D probably benign Het
Ankfn1 G A 11: 89,429,292 (GRCm39) H31Y probably benign Het
BC016579 A T 16: 45,449,865 (GRCm39) S184R probably damaging Het
Cd101 A G 3: 100,919,245 (GRCm39) L619P probably damaging Het
Clec14a A T 12: 58,314,888 (GRCm39) C245S probably damaging Het
Csmd2 T C 4: 128,103,521 (GRCm39) C247R probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dctn1 T C 6: 83,169,496 (GRCm39) S637P possibly damaging Het
Dhx40 A T 11: 86,690,331 (GRCm39) I230K probably benign Het
Dnah7b T C 1: 46,329,968 (GRCm39) Y3271H probably damaging Het
Efcab5 A T 11: 76,996,174 (GRCm39) I1129N probably damaging Het
Gaa G T 11: 119,167,674 (GRCm39) A445S probably damaging Het
Gldc A G 19: 30,113,909 (GRCm39) S498P probably damaging Het
Gm973 T C 1: 59,580,634 (GRCm39) probably null Het
Hpdl T C 4: 116,677,439 (GRCm39) I341V probably damaging Het
Il23r A G 6: 67,463,078 (GRCm39) probably null Het
Kif9 T A 9: 110,314,217 (GRCm39) Y76N probably damaging Het
Lct T G 1: 128,227,905 (GRCm39) E1196A probably damaging Het
Lrrc37a T C 11: 103,392,132 (GRCm39) I1098V possibly damaging Het
Mroh1 A G 15: 76,316,601 (GRCm39) probably null Het
Nmrk1 T C 19: 18,618,623 (GRCm39) L102P probably damaging Het
Nudcd3 A T 11: 6,100,635 (GRCm39) probably benign Het
Ogdh A G 11: 6,298,270 (GRCm39) T603A probably benign Het
Or12j2 A T 7: 139,916,519 (GRCm39) Y248F possibly damaging Het
Or8k38 T A 2: 86,488,128 (GRCm39) I225F probably damaging Het
Pcsk4 T C 10: 80,158,626 (GRCm39) Y542C probably damaging Het
Pkd2l2 T A 18: 34,545,862 (GRCm39) W88R probably damaging Het
Ppp1r1b C T 11: 98,242,096 (GRCm39) T21I possibly damaging Het
Srebf2 C A 15: 82,069,575 (GRCm39) H706N probably damaging Het
Svep1 T C 4: 58,069,804 (GRCm39) T2661A possibly damaging Het
Tnn A T 1: 159,943,848 (GRCm39) S988R possibly damaging Het
Trpm6 C A 19: 18,843,621 (GRCm39) Q1662K probably benign Het
Utp3 T A 5: 88,703,267 (GRCm39) Y265* probably null Het
Vwf A G 6: 125,640,511 (GRCm39) T2316A probably benign Het
Zfp90 T C 8: 107,150,841 (GRCm39) F185L probably benign Het
Zwilch G A 9: 64,057,509 (GRCm39) T395I probably damaging 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
P0047:Stradb UTSW 1 59,028,957 (GRCm39) missense probably null 0.86
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 2015-12-18