Incidental Mutation 'R4234:Ajuba'
ID321027
Institutional Source Beutler Lab
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 #R4234 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location54567472-54577558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54569526 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 490 (R490G)
Ref Sequence ENSEMBL: ENSMUSP00000056977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054487]
Predicted Effect probably damaging
Transcript: ENSMUST00000054487
AA Change: R490G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056977
Gene: ENSMUSG00000022178
AA Change: R490G

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
Meta Mutation Damage Score 0.7971 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 70,394,529 A53T probably benign Het
Ahnak A T 19: 9,000,786 K90* probably null Het
Akap6 T A 12: 53,139,671 N1289K probably damaging Het
Ankfy1 G A 11: 72,714,484 probably null Het
Ap3s1 A T 18: 46,779,200 T96S probably benign Het
Arhgap21 A G 2: 20,887,137 V161A probably damaging Het
Arhgef18 T C 8: 3,450,317 I541T possibly damaging Het
Aspg T A 12: 112,123,316 Y429* probably null Het
Atg14 T C 14: 47,551,345 K184E probably benign Het
BC034090 C T 1: 155,241,580 G264D probably benign Het
Casp8 T C 1: 58,844,770 V432A probably damaging Het
Cerk T C 15: 86,142,788 K174E probably benign Het
Col19a1 T C 1: 24,315,395 probably null Het
Cyp2c23 G T 19: 44,029,165 T8K unknown Het
Ddx1 C T 12: 13,223,857 V590I possibly damaging Het
Dok4 T C 8: 94,865,664 E232G probably damaging Het
Dpf1 T C 7: 29,315,632 S304P probably damaging Het
Dpyd T A 3: 119,431,584 I1002N probably damaging Het
Fam107b T C 2: 3,770,740 S3P possibly damaging Het
Gm1527 G A 3: 28,914,366 G189D probably damaging Het
Hspa12b T C 2: 131,139,012 V162A probably benign Het
Lix1l T A 3: 96,623,657 probably null Het
Mdc1 T C 17: 35,848,824 C658R probably benign Het
Mrps30 T C 13: 118,386,840 D132G probably damaging Het
Myh15 G T 16: 49,163,042 V1507L probably benign Het
Nfe2l1 T C 11: 96,819,909 D210G probably damaging Het
Notch3 T A 17: 32,141,341 I1539F probably damaging Het
Pcdhac1 A C 18: 37,090,958 S275R probably damaging Het
Pcdhga5 A G 18: 37,695,948 D483G possibly damaging Het
Ralgapa1 C T 12: 55,640,644 R2019Q probably damaging Het
Rbbp5 A G 1: 132,484,758 T20A probably benign Het
Rere T C 4: 150,617,405 V1414A probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Ryr3 G T 2: 112,910,407 N538K probably damaging Het
Serpina3j C A 12: 104,315,186 T206K probably benign Het
Skint11 C A 4: 114,244,659 Q99K probably benign Het
Slc27a5 C A 7: 12,988,443 C416F probably benign Het
Tas2r140 A T 6: 133,054,952 V281D probably damaging Het
Tex30 A T 1: 44,091,512 I32K possibly damaging Het
Trpc2 T C 7: 102,088,135 I752T possibly damaging Het
Wnk2 A G 13: 49,061,128 V1314A probably benign Het
Other mutations in Ajuba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Ajuba APN 14 54571769 nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTGGACATAGGTCACTGCAG -3'
(R):5'- GCTAGCAAGTAAGGCTGAGC -3'

Sequencing Primer
(F):5'- GTCACTGCAGTGTCCTGG -3'
(R):5'- CTGGTAGGAGTTGCTTAAAAGATCTC -3'
Posted On2015-06-12