Incidental Mutation 'IGL03284:Dmac2'
ID 415673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmac2
Ensembl Gene ENSMUSG00000057229
Gene Name distal membrane arm assembly complex 2
Synonyms Atp5sl, 2310004L02Rik, C030044E10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.396) question?
Stock # IGL03284
Quality Score
Status
Chromosome 7
Chromosomal Location 25318839-25324975 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 25321851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077338] [ENSMUST00000077338] [ENSMUST00000077338] [ENSMUST00000077338] [ENSMUST00000085953] [ENSMUST00000085953] [ENSMUST00000085953] [ENSMUST00000085953] [ENSMUST00000126925] [ENSMUST00000205281]
AlphaFold Q9D7K5
Predicted Effect probably null
Transcript: ENSMUST00000077338
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000077338
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000077338
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000077338
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000085953
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000085953
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000085953
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000085953
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147472
Predicted Effect probably benign
Transcript: ENSMUST00000205281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205593
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,276,354 (GRCm39) probably benign Het
Atxn7l3b T C 10: 112,764,431 (GRCm39) D66G probably benign Het
Ephb2 A G 4: 136,388,827 (GRCm39) M590T probably damaging Het
Fbxo41 C T 6: 85,456,747 (GRCm39) R474H probably damaging Het
Fcgbp G T 7: 27,784,857 (GRCm39) A306S possibly damaging Het
Hapstr1 A G 16: 8,673,786 (GRCm39) I238V possibly damaging Het
Hmg20a A G 9: 56,388,901 (GRCm39) D156G probably benign Het
Mast4 A G 13: 102,887,905 (GRCm39) V1168A probably damaging Het
Oog2 A G 4: 143,923,177 (GRCm39) probably benign Het
Pate12 T A 9: 36,344,759 (GRCm39) C96S probably damaging Het
Pkhd1l1 T A 15: 44,410,914 (GRCm39) probably benign Het
Psmd6 A T 14: 14,112,546 (GRCm38) N351K probably benign Het
Ralgps1 T C 2: 33,036,577 (GRCm39) probably benign Het
Rbl1 C T 2: 157,035,989 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,004,142 (GRCm39) V399I probably benign Het
Srek1 C A 13: 103,897,045 (GRCm39) V99F probably damaging Het
Styxl1 A G 5: 135,785,949 (GRCm39) V32A possibly damaging Het
Tnn C T 1: 159,953,022 (GRCm39) V673I probably benign Het
Vmn2r107 T A 17: 20,577,173 (GRCm39) D390E probably benign Het
Other mutations in Dmac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0390:Dmac2 UTSW 7 25,320,454 (GRCm39) missense probably damaging 1.00
R1824:Dmac2 UTSW 7 25,324,217 (GRCm39) missense probably damaging 1.00
R8548:Dmac2 UTSW 7 25,324,217 (GRCm39) missense probably damaging 1.00
R8789:Dmac2 UTSW 7 25,320,495 (GRCm39) missense probably benign 0.06
R9130:Dmac2 UTSW 7 25,320,448 (GRCm39) missense probably damaging 1.00
R9261:Dmac2 UTSW 7 25,320,345 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02