Incidental Mutation 'IGL01403:Dr1'
ID 79705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dr1
Ensembl Gene ENSMUSG00000029265
Gene Name down-regulator of transcription 1
Synonyms 1700121L09Rik, Dr1l, NC2beta, NC2
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL01403
Quality Score
Status
Chromosome 5
Chromosomal Location 108416763-108428387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108417576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 41 (N41D)
Ref Sequence ENSEMBL: ENSMUSP00000031190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031190]
AlphaFold Q91WV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031190
AA Change: N41D

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031190
Gene: ENSMUSG00000029265
AA Change: N41D

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 11 75 1.7e-24 PFAM
low complexity region 115 125 N/A INTRINSIC
low complexity region 127 168 N/A INTRINSIC
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 TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,836,602 (GRCm39) L1103Q probably damaging Het
Adam12 T A 7: 133,521,339 (GRCm39) Q605L probably benign Het
Adk A G 14: 21,284,983 (GRCm39) K102R probably damaging Het
Afdn C T 17: 14,124,132 (GRCm39) P1761S probably damaging Het
Ascc1 A G 10: 59,848,280 (GRCm39) probably benign Het
Aspdh A G 7: 44,115,983 (GRCm39) probably null Het
Bbx T C 16: 50,022,876 (GRCm39) I753V probably benign Het
Ccdc33 T C 9: 58,024,668 (GRCm39) Y186C probably damaging Het
Ccdc78 T A 17: 26,007,218 (GRCm39) probably null Het
Ckmt1 T C 2: 121,193,447 (GRCm39) probably benign Het
Csf1r A G 18: 61,247,897 (GRCm39) T322A probably benign Het
Dnah7b T C 1: 46,155,460 (GRCm39) probably benign Het
Ehmt1 G A 2: 24,729,638 (GRCm39) T633I possibly damaging Het
Fgf7 T A 2: 125,877,860 (GRCm39) Y76N probably damaging Het
Hmcn1 A T 1: 150,468,848 (GRCm39) W5038R probably damaging Het
Ighv14-1 A G 12: 113,895,862 (GRCm39) V21A probably damaging Het
Igkv5-37 T A 6: 69,940,420 (GRCm39) I75F probably damaging Het
Inhbc T A 10: 127,205,968 (GRCm39) I100F probably damaging Het
Irs3 A G 5: 137,643,581 (GRCm39) F68L probably damaging Het
Itpr3 T A 17: 27,337,569 (GRCm39) C2460S probably damaging Het
Krt34 A G 11: 99,929,116 (GRCm39) C365R possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Ly6g A G 15: 75,030,497 (GRCm39) N82S probably damaging Het
Mrpl58 A T 11: 115,297,404 (GRCm39) I72F probably damaging Het
Myo9a G A 9: 59,778,846 (GRCm39) R1534H probably damaging Het
Npat T A 9: 53,466,429 (GRCm39) F239L probably benign Het
Nsd2 A G 5: 34,042,722 (GRCm39) probably benign Het
Nuggc T C 14: 65,860,635 (GRCm39) V427A probably benign Het
Or52b1 G A 7: 104,978,605 (GRCm39) R265C probably benign Het
Or5p55 A G 7: 107,566,828 (GRCm39) T75A possibly damaging Het
Pde4a A T 9: 21,116,412 (GRCm39) I467F probably damaging Het
Pkhd1l1 T A 15: 44,347,229 (GRCm39) C198* probably null Het
Pla2r1 A G 2: 60,254,632 (GRCm39) V1312A probably damaging Het
Pola2 T C 19: 6,009,121 (GRCm39) H79R probably benign Het
Potefam1 T C 2: 111,059,515 (GRCm39) probably benign Het
Pramel15 A T 4: 144,103,703 (GRCm39) M141K probably benign Het
Psen2 A T 1: 180,062,548 (GRCm39) probably benign Het
Rnf213 A G 11: 119,334,126 (GRCm39) K3112E probably damaging Het
Slc6a4 G T 11: 76,922,498 (GRCm39) V630L probably benign Het
Smg1 A T 7: 117,757,355 (GRCm39) probably benign Het
Tmc8 A G 11: 117,681,900 (GRCm39) T510A possibly damaging Het
Usp18 T A 6: 121,245,627 (GRCm39) H334Q possibly damaging Het
Vmn2r103 T C 17: 20,013,229 (GRCm39) Y117H probably benign Het
Vps13b T A 15: 35,709,625 (GRCm39) D1857E probably benign Het
Other mutations in Dr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03231:Dr1 APN 5 108,423,474 (GRCm39) missense probably benign 0.07
PIT4696001:Dr1 UTSW 5 108,417,604 (GRCm39) missense probably damaging 1.00
R0550:Dr1 UTSW 5 108,417,471 (GRCm39) missense probably benign 0.09
R1682:Dr1 UTSW 5 108,417,604 (GRCm39) missense probably damaging 1.00
R7366:Dr1 UTSW 5 108,423,594 (GRCm39) missense unknown
X0027:Dr1 UTSW 5 108,417,645 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05