Incidental Mutation 'IGL00422:Ajuba'
ID5876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ajuba
Ensembl Gene ENSMUSG00000022178
Gene Nameajuba LIM protein
SynonymsJub
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00422
Quality Score
Status
Chromosome14
Chromosomal Location54567472-54577558 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 54571769 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 400 (Y400*)
Ref Sequence ENSEMBL: ENSMUSP00000056977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054487]
Predicted Effect probably null
Transcript: ENSMUST00000054487
AA Change: Y400*
SMART Domains Protein: ENSMUSP00000056977
Gene: ENSMUSG00000022178
AA Change: Y400*

DomainStartEndE-ValueType
low complexity region 41 58 N/A INTRINSIC
low complexity region 125 148 N/A INTRINSIC
low complexity region 150 165 N/A INTRINSIC
low complexity region 201 214 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 300 309 N/A INTRINSIC
LIM 346 399 1.41e-14 SMART
LIM 411 463 6.49e-14 SMART
LIM 471 532 2.89e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226463
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and reach adulthood without any obvious phenotypes, however mouse embryonic fibroblasts exhibit impaired cell migration and abnormal lamellipodia production in vitro. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Ajuba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02935:Ajuba APN 14 54570467 missense probably damaging 1.00
R2281:Ajuba UTSW 14 54577188 missense probably damaging 1.00
R4231:Ajuba UTSW 14 54569526 missense probably damaging 0.99
R4232:Ajuba UTSW 14 54569526 missense probably damaging 0.99
R4233:Ajuba UTSW 14 54569526 missense probably damaging 0.99
R4234:Ajuba UTSW 14 54569526 missense probably damaging 0.99
R4236:Ajuba UTSW 14 54569526 missense probably damaging 0.99
R4924:Ajuba UTSW 14 54571599 critical splice donor site probably null
R5384:Ajuba UTSW 14 54570398 missense probably damaging 1.00
R5385:Ajuba UTSW 14 54570398 missense probably damaging 1.00
R5386:Ajuba UTSW 14 54570398 missense probably damaging 1.00
R7199:Ajuba UTSW 14 54573458 nonsense probably null
R7570:Ajuba UTSW 14 54576402 missense probably damaging 0.99
R8221:Ajuba UTSW 14 54570390 missense possibly damaging 0.93
Posted On2012-04-20