Incidental Mutation 'IGL02808:Dram1'
ID 360501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dram1
Ensembl Gene ENSMUSG00000020057
Gene Name DNA-damage regulated autophagy modulator 1
Synonyms 1200002N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02808
Quality Score
Status
Chromosome 10
Chromosomal Location 88158663-88200218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88172786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 136 (Y136C)
Ref Sequence ENSEMBL: ENSMUSP00000020249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020249] [ENSMUST00000138159] [ENSMUST00000156097]
AlphaFold Q9DC58
Predicted Effect probably damaging
Transcript: ENSMUST00000020249
AA Change: Y136C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020249
Gene: ENSMUSG00000020057
AA Change: Y136C

DomainStartEndE-ValueType
Pfam:Frag1 7 226 8.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138159
Predicted Effect probably benign
Transcript: ENSMUST00000156097
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 is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk C T 14: 21,153,901 (GRCm39) P35S probably benign Het
Ankmy1 T A 1: 92,814,388 (GRCm39) D373V probably damaging Het
Aox3 A G 1: 58,181,859 (GRCm39) Y282C probably damaging Het
Bcas3 A G 11: 85,386,677 (GRCm39) T371A probably benign Het
Bckdhb T C 9: 83,870,898 (GRCm39) V136A probably benign Het
Ccdc18 G T 5: 108,283,835 (GRCm39) probably benign Het
Cdc25a T A 9: 109,712,667 (GRCm39) probably null Het
Ckap5 T A 2: 91,426,859 (GRCm39) Y1394N probably damaging Het
Dhx15 A G 5: 52,319,041 (GRCm39) V458A possibly damaging Het
Dusp19 A G 2: 80,447,815 (GRCm39) K30E probably benign Het
Elmo2 T C 2: 165,133,627 (GRCm39) probably benign Het
Fcho1 G A 8: 72,165,185 (GRCm39) S424L possibly damaging Het
Ganc A G 2: 120,241,992 (GRCm39) T57A probably benign Het
Hgs T A 11: 120,360,492 (GRCm39) Y63* probably null Het
Marchf6 A T 15: 31,478,552 (GRCm39) N594K probably benign Het
Muc5ac C A 7: 141,359,512 (GRCm39) T1323N possibly damaging Het
Mycn T C 12: 12,989,893 (GRCm39) S168G probably benign Het
Phf11d G T 14: 59,586,739 (GRCm39) Q298K probably damaging Het
Pkd1 T A 17: 24,812,478 (GRCm39) Y3804N probably damaging Het
Pramel16 T A 4: 143,677,585 (GRCm39) probably benign Het
Prr14l A G 5: 32,985,526 (GRCm39) I1323T possibly damaging Het
Pyroxd2 T C 19: 42,719,781 (GRCm39) E475G probably benign Het
Ros1 T C 10: 52,001,985 (GRCm39) K1046E probably damaging Het
Sema7a C T 9: 57,867,631 (GRCm39) A461V probably benign Het
Slc30a2 T A 4: 134,071,360 (GRCm39) I31N possibly damaging Het
Srebf1 C A 11: 60,092,539 (GRCm39) probably null Het
Srms A T 2: 180,849,501 (GRCm39) I301N probably damaging Het
Tmem130 A G 5: 144,680,433 (GRCm39) Y324H probably damaging Het
Ttn G A 2: 76,601,602 (GRCm39) T18654I probably benign Het
Vmn2r6 T A 3: 64,463,917 (GRCm39) T306S probably damaging Het
Other mutations in Dram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Dram1 APN 10 88,161,203 (GRCm39) missense probably damaging 0.99
R1076:Dram1 UTSW 10 88,161,246 (GRCm39) missense probably damaging 0.96
R1430:Dram1 UTSW 10 88,160,641 (GRCm39) missense possibly damaging 0.50
R4662:Dram1 UTSW 10 88,161,246 (GRCm39) missense probably damaging 0.96
R5601:Dram1 UTSW 10 88,160,629 (GRCm39) missense probably damaging 0.96
R7396:Dram1 UTSW 10 88,176,507 (GRCm39) missense probably benign 0.45
R7881:Dram1 UTSW 10 88,160,609 (GRCm39) missense probably benign 0.00
R9449:Dram1 UTSW 10 88,192,703 (GRCm39) missense probably benign 0.38
Posted On 2015-12-18