Incidental Mutation 'IGL02194:Det1'
ID 284002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Det1
Ensembl Gene ENSMUSG00000030610
Gene Name de-etiolated homolog 1 (Arabidopsis)
Synonyms 2610034H20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # IGL02194
Quality Score
Status
Chromosome 7
Chromosomal Location 78821547-78847263 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78840164 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 371 (V371E)
Ref Sequence ENSEMBL: ENSMUSP00000032839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032839] [ENSMUST00000107431]
AlphaFold Q9D0A0
Predicted Effect probably benign
Transcript: ENSMUST00000032839
AA Change: V371E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032839
Gene: ENSMUSG00000030610
AA Change: V371E

DomainStartEndE-ValueType
Pfam:Det1 142 547 2.6e-198 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107431
AA Change: V40E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103054
Gene: ENSMUSG00000030610
AA Change: V40E

DomainStartEndE-ValueType
Pfam:Det1 6 138 2.7e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,591,355 Q230* probably null Het
Akap5 C T 12: 76,328,033 P80S probably damaging Het
Akap6 T A 12: 52,886,823 M366K probably benign Het
Ankef1 T A 2: 136,550,509 D539E probably benign Het
Anxa11 A G 14: 25,870,129 D39G unknown Het
Atp13a4 G T 16: 29,456,629 H346N probably damaging Het
Btnl1 A C 17: 34,379,535 T42P possibly damaging Het
Cul3 T A 1: 80,323,037 Y29F probably benign Het
Dcun1d4 A G 5: 73,481,201 probably benign Het
Duoxa2 C A 2: 122,301,849 A248D possibly damaging Het
E330021D16Rik T C 6: 136,401,058 Q258R probably benign Het
Ehbp1l1 A T 19: 5,718,857 I806K probably benign Het
Fam76b G T 9: 13,832,978 G124W probably damaging Het
Fhl5 T C 4: 25,211,341 E117G probably benign Het
Ighv15-2 T C 12: 114,564,721 I70V probably damaging Het
Iqca T C 1: 90,045,663 T768A probably benign Het
Itih1 A C 14: 30,930,365 D786E probably benign Het
Krt15 A G 11: 100,132,013 probably benign Het
Lgals9 T A 11: 78,966,920 probably null Het
Map3k4 G T 17: 12,248,995 Q1051K probably benign Het
Map3k4 G T 17: 12,263,928 P634H probably damaging Het
Mettl21e T C 1: 44,211,183 D21G probably benign Het
Mre11a T C 9: 14,815,209 S423P possibly damaging Het
Mzf1 T A 7: 13,043,720 T665S possibly damaging Het
Olfr1216 T C 2: 89,013,887 Y59C probably damaging Het
Olfr371 T A 8: 85,230,633 I46N possibly damaging Het
Otx2 A T 14: 48,661,393 V52D possibly damaging Het
Rnf157 C T 11: 116,347,032 probably null Het
Ssxa1 T A X: 21,121,155 I115N unknown Het
Other mutations in Det1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Det1 APN 7 78840059 missense probably benign 0.00
IGL01611:Det1 APN 7 78827954 missense possibly damaging 0.92
IGL01924:Det1 APN 7 78843823 nonsense probably null
IGL03387:Det1 APN 7 78843624 missense possibly damaging 0.77
R0418:Det1 UTSW 7 78844017 missense probably benign 0.08
R0633:Det1 UTSW 7 78843935 missense probably benign 0.11
R1959:Det1 UTSW 7 78843443 missense probably benign 0.08
R1966:Det1 UTSW 7 78843218 missense probably damaging 1.00
R4612:Det1 UTSW 7 78843706 missense probably damaging 1.00
R4809:Det1 UTSW 7 78843807 missense probably damaging 1.00
R5193:Det1 UTSW 7 78843554 missense probably damaging 1.00
R5661:Det1 UTSW 7 78843210 missense probably damaging 0.97
R7106:Det1 UTSW 7 78843464 missense probably damaging 1.00
R7673:Det1 UTSW 7 78843611 missense possibly damaging 0.85
R8093:Det1 UTSW 7 78843509 missense possibly damaging 0.87
R9009:Det1 UTSW 7 78843236 missense probably benign 0.00
R9740:Det1 UTSW 7 78844253 start codon destroyed probably null 0.86
Posted On 2015-04-16