Incidental Mutation 'IGL02029:Trp53rkb'
ID184316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trp53rkb
Ensembl Gene ENSMUSG00000042854
Gene Nametransformation related protein 53 regulating kinase B
SynonymsNori-2, 4933401B08Rik, Trp53rk, mNori-2p, PRPK, 5630401H01Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.745) question?
Stock #IGL02029
Quality Score
Status
Chromosome2
Chromosomal Location166792531-166799505 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 166795394 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 90 (P90Q)
Ref Sequence ENSEMBL: ENSMUSP00000115353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065753] [ENSMUST00000151826]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051923
Predicted Effect probably benign
Transcript: ENSMUST00000065753
SMART Domains Protein: ENSMUSP00000066907
Gene: ENSMUSG00000042854

DomainStartEndE-ValueType
low complexity region 29 49 N/A INTRINSIC
low complexity region 107 137 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151826
AA Change: P90Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115353
Gene: ENSMUSG00000042854
AA Change: P90Q

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 24 189 1.1e-6 PFAM
Pfam:Pkinase 25 201 5.8e-9 PFAM
Pfam:Kdo 31 216 1.4e-13 PFAM
Pfam:RIO1 36 185 3.8e-10 PFAM
low complexity region 219 230 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,080,283 V221A unknown Het
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccdc61 C T 7: 18,903,498 C68Y probably damaging Het
Ccnl2 A G 4: 155,821,862 S351G probably benign Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Clhc1 T C 11: 29,560,798 S256P probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
March3 G A 18: 56,807,681 P126S probably benign Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Snph A G 2: 151,593,607 V434A probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in Trp53rkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Trp53rkb UTSW 2 166795683 missense probably damaging 1.00
R0841:Trp53rkb UTSW 2 166795510 missense probably benign 0.02
R1921:Trp53rkb UTSW 2 166795823 missense probably damaging 1.00
R2183:Trp53rkb UTSW 2 166793957 missense possibly damaging 0.52
R3116:Trp53rkb UTSW 2 166794089 intron probably benign
R3925:Trp53rkb UTSW 2 166795472 missense probably damaging 1.00
R3977:Trp53rkb UTSW 2 166795526 missense possibly damaging 0.65
R4191:Trp53rkb UTSW 2 166795475 missense probably damaging 1.00
Posted On2014-05-07