Incidental Mutation 'IGL02132:Gm5069'
ID 281021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5069
Ensembl Gene ENSMUSG00000055676
Gene Name predicted pseudogene 5069
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02132
Quality Score
Status
Chromosome 1
Chromosomal Location 180154534-180158114 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 180154872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070181]
AlphaFold no structure available at present
PDB Structure Crystal Structure of the Catalytic and CaM-Binding domains of Inositol 1,4,5-Trisphosphate 3-Kinase B [X-RAY DIFFRACTION]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050581
SMART Domains Protein: ENSMUSP00000050698
Gene: ENSMUSG00000055676

DomainStartEndE-ValueType
Gp_dh_N 2 154 5.53e-95 SMART
Pfam:Gp_dh_C 159 316 5.8e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070181
SMART Domains Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855

DomainStartEndE-ValueType
low complexity region 68 106 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
low complexity region 302 314 N/A INTRINSIC
low complexity region 595 618 N/A INTRINSIC
Pfam:IPK 722 933 3.5e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192714
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,614,635 (GRCm39) probably benign Het
4930432E11Rik C T 7: 29,262,704 (GRCm39) noncoding transcript Het
Adcy10 T C 1: 165,400,112 (GRCm39) V1507A probably damaging Het
Ap3b2 T A 7: 81,110,746 (GRCm39) M1010L unknown Het
Bmp10 T C 6: 87,411,130 (GRCm39) S308P probably benign Het
Cnih3 C A 1: 181,282,274 (GRCm39) Y169* probably null Het
Cpsf4l A G 11: 113,590,685 (GRCm39) S222P possibly damaging Het
Cyp2d10 G A 15: 82,288,808 (GRCm39) probably benign Het
Dcstamp A T 15: 39,617,928 (GRCm39) E112D probably damaging Het
Fras1 C T 5: 96,929,496 (GRCm39) Q3967* probably null Het
Gcm1 C A 9: 77,972,121 (GRCm39) P354H possibly damaging Het
Gen1 A G 12: 11,291,867 (GRCm39) S706P probably benign Het
Glb1l3 G T 9: 26,736,466 (GRCm39) T532N probably benign Het
Gzmc A C 14: 56,471,422 (GRCm39) F40V probably benign Het
Itgb2 G T 10: 77,385,895 (GRCm39) C286F probably damaging Het
Jak3 A G 8: 72,131,124 (GRCm39) Y48C probably damaging Het
Lrp2 G A 2: 69,367,960 (GRCm39) S184L probably benign Het
Myo1f T A 17: 33,798,945 (GRCm39) N203K probably benign Het
Nrxn2 G A 19: 6,522,306 (GRCm39) G182R probably damaging Het
Or4k15c T C 14: 50,321,943 (GRCm39) N65S probably damaging Het
Or4p8 A G 2: 88,727,503 (GRCm39) V146A probably benign Het
Or5g23 A C 2: 85,438,664 (GRCm39) L197V probably benign Het
Otog C T 7: 45,954,903 (GRCm39) S2692L probably damaging Het
Pde9a C T 17: 31,672,444 (GRCm39) T34I probably benign Het
Phip T C 9: 82,763,394 (GRCm39) T1295A possibly damaging Het
Pik3cb A G 9: 98,953,430 (GRCm39) V451A probably benign Het
Psd2 T G 18: 36,137,809 (GRCm39) probably benign Het
Pycr2 T C 1: 180,733,762 (GRCm39) I118T probably damaging Het
Rnf17 T G 14: 56,658,623 (GRCm39) M104R probably benign Het
Rp1l1 T C 14: 64,266,259 (GRCm39) V615A probably benign Het
Sel1l3 T A 5: 53,327,747 (GRCm39) R511W possibly damaging Het
Sis T C 3: 72,854,804 (GRCm39) N478D probably benign Het
Trps1 T A 15: 50,685,674 (GRCm39) S584C probably damaging Het
Vmn2r124 T C 17: 18,284,491 (GRCm39) probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Zc3h13 T C 14: 75,567,787 (GRCm39) S1027P probably benign Het
Zfp644 A T 5: 106,783,760 (GRCm39) I929K probably benign Het
Other mutations in Gm5069
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02563:Gm5069 APN 1 180,155,464 (GRCm39) unclassified probably benign
Posted On 2015-04-16