Incidental Mutation 'IGL02818:Stradb'
ID360872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stradb
Ensembl Gene ENSMUSG00000026027
Gene NameSTE20-related kinase adaptor beta
SynonymsAls2cr2, D1Ucla2, PRO1038
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02818
Quality Score
Status
Chromosome1
Chromosomal Location58973522-58995715 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58979962 bp
ZygosityHeterozygous
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]
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: 24,300,352 F653S probably benign Het
Acsm2 A G 7: 119,573,581 probably null Het
Aldh2 C T 5: 121,575,125 G256D probably benign Het
Ankfn1 G A 11: 89,538,466 H31Y probably benign Het
BC016579 A T 16: 45,629,502 S184R probably damaging Het
Cd101 A G 3: 101,011,929 L619P probably damaging Het
Clec14a A T 12: 58,268,102 C245S probably damaging Het
Csmd2 T C 4: 128,209,728 C247R probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dctn1 T C 6: 83,192,514 S637P possibly damaging Het
Dhx40 A T 11: 86,799,505 I230K probably benign Het
Dnah7b T C 1: 46,290,808 Y3271H probably damaging Het
Efcab5 A T 11: 77,105,348 I1129N probably damaging Het
Gaa G T 11: 119,276,848 A445S probably damaging Het
Gldc A G 19: 30,136,509 S498P probably damaging Het
Gm973 T C 1: 59,541,475 probably null Het
Hpdl T C 4: 116,820,242 I341V probably damaging Het
Il23r A G 6: 67,486,094 probably null Het
Kif9 T A 9: 110,485,149 Y76N probably damaging Het
Lct T G 1: 128,300,168 E1196A probably damaging Het
Lrrc37a T C 11: 103,501,306 I1098V possibly damaging Het
Mroh1 A G 15: 76,432,401 probably null Het
Nmrk1 T C 19: 18,641,259 L102P probably damaging Het
Nudcd3 A T 11: 6,150,635 probably benign Het
Ogdh A G 11: 6,348,270 T603A probably benign Het
Olfr1085 T A 2: 86,657,784 I225F probably damaging Het
Olfr527 A T 7: 140,336,606 Y248F possibly damaging Het
Pcsk4 T C 10: 80,322,792 Y542C probably damaging Het
Pkd2l2 T A 18: 34,412,809 W88R probably damaging Het
Ppp1r1b C T 11: 98,351,270 T21I possibly damaging Het
Srebf2 C A 15: 82,185,374 H706N probably damaging Het
Svep1 T C 4: 58,069,804 T2661A possibly damaging Het
Tnn A T 1: 160,116,278 S988R possibly damaging Het
Trpm6 C A 19: 18,866,257 Q1662K probably benign Het
Utp3 T A 5: 88,555,408 Y265* probably null Het
Vwf A G 6: 125,663,548 T2316A probably benign Het
Zfp90 T C 8: 106,424,209 F185L probably benign Het
Zwilch G A 9: 64,150,227 T395I probably damaging Het
Other mutations in Stradb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Stradb APN 1 58988529 missense probably damaging 0.98
IGL00843:Stradb APN 1 58994409 missense probably benign
IGL01288:Stradb APN 1 58992301 missense possibly damaging 0.61
IGL02045:Stradb APN 1 58989778 missense probably damaging 1.00
P0047:Stradb UTSW 1 58989798 missense probably null 0.86
R0739:Stradb UTSW 1 58977015 unclassified probably benign
R0970:Stradb UTSW 1 58977060 missense possibly damaging 0.92
R1809:Stradb UTSW 1 58994390 missense possibly damaging 0.54
R1930:Stradb UTSW 1 58991105 missense probably benign 0.07
R1931:Stradb UTSW 1 58991105 missense probably benign 0.07
R1932:Stradb UTSW 1 58991105 missense probably benign 0.07
R2570:Stradb UTSW 1 58988584 missense probably damaging 1.00
R2919:Stradb UTSW 1 58992669 missense probably benign 0.44
R3104:Stradb UTSW 1 58992291 missense possibly damaging 0.86
R3105:Stradb UTSW 1 58992291 missense possibly damaging 0.86
R3106:Stradb UTSW 1 58992291 missense possibly damaging 0.86
R3772:Stradb UTSW 1 58985385 missense probably benign 0.04
R4120:Stradb UTSW 1 58980009 missense possibly damaging 0.92
R4417:Stradb UTSW 1 58994372 missense probably benign
R4569:Stradb UTSW 1 58979958 nonsense probably null
R4601:Stradb UTSW 1 58993572 missense probably damaging 0.98
R4758:Stradb UTSW 1 58988571 missense probably benign 0.02
R4786:Stradb UTSW 1 58991208 intron probably benign
R4944:Stradb UTSW 1 58980440 missense probably benign 0.27
R5113:Stradb UTSW 1 58991174 intron probably benign
R5568:Stradb UTSW 1 58992742 missense possibly damaging 0.72
R5765:Stradb UTSW 1 58992744 missense probably benign 0.31
R5970:Stradb UTSW 1 58980016 critical splice donor site probably null
R6234:Stradb UTSW 1 58988548 missense probably damaging 1.00
R7411:Stradb UTSW 1 58988518 missense possibly damaging 0.95
R7511:Stradb UTSW 1 58992949 missense probably damaging 0.97
R7569:Stradb UTSW 1 58991151 missense unknown
R7575:Stradb UTSW 1 58988580 missense probably benign 0.00
R7646:Stradb UTSW 1 58994408 missense probably benign 0.14
R7658:Stradb UTSW 1 58992726 missense probably damaging 0.96
R8306:Stradb UTSW 1 58991197 missense unknown
R8812:Stradb UTSW 1 58994319 missense probably benign 0.16
Z1176:Stradb UTSW 1 58992999 missense probably damaging 1.00
Posted On2015-12-18