Incidental Mutation 'IGL01924:Det1'
ID 180206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Det1
Ensembl Gene ENSMUSG00000030610
Gene Name DET1 partner of COP1 E3 ubiquitin ligase
Synonyms 2610034H20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.806) question?
Stock # IGL01924
Quality Score
Chromosome 7
Chromosomal Location 78471295-78497011 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 78493571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 144 (C144*)
Ref Sequence ENSEMBL: ENSMUSP00000032839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032839] [ENSMUST00000107431]
AlphaFold Q9D0A0
Predicted Effect probably null
Transcript: ENSMUST00000032839
AA Change: C144*
SMART Domains Protein: ENSMUSP00000032839
Gene: ENSMUSG00000030610
AA Change: C144*

Pfam:Det1 142 547 2.6e-198 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107431
SMART Domains Protein: ENSMUSP00000103054
Gene: ENSMUSG00000030610

Pfam:Det1 6 138 2.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205762
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,362,047 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Aox1 C T 1: 58,326,902 (GRCm39) T167I possibly damaging Het
Apba3 G T 10: 81,108,907 (GRCm39) A557S probably benign Het
Atad2b T C 12: 5,084,093 (GRCm39) L1382P probably damaging Het
Atrn C T 2: 130,777,485 (GRCm39) T178I probably damaging Het
B4galnt1 A G 10: 127,002,630 (GRCm39) S88G probably benign Het
Baz2b T C 2: 59,765,615 (GRCm39) K887E probably damaging Het
Castor2 T C 5: 134,164,441 (GRCm39) F134S probably benign Het
Ccdc162 A C 10: 41,445,883 (GRCm39) F430V probably damaging Het
Cdc42bpb T A 12: 111,283,887 (GRCm39) probably benign Het
Cfhr4 G A 1: 139,666,944 (GRCm39) L444F probably damaging Het
Chit1 A G 1: 134,077,148 (GRCm39) D317G probably benign Het
Chrnb1 A T 11: 69,685,845 (GRCm39) probably benign Het
Cobl G T 11: 12,204,596 (GRCm39) T620K probably benign Het
Creld1 T C 6: 113,460,921 (GRCm39) F20L probably benign Het
Csmd2 A T 4: 128,453,740 (GRCm39) D3475V unknown Het
Cyp3a57 A G 5: 145,309,439 (GRCm39) D259G probably benign Het
Dbnl A G 11: 5,747,142 (GRCm39) Y224C probably damaging Het
Fbxo47 G T 11: 97,746,986 (GRCm39) A360D probably damaging Het
Frrs1 G A 3: 116,678,888 (GRCm39) G237R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gria2 T C 3: 80,617,638 (GRCm39) T372A probably benign Het
Hmcn2 A T 2: 31,288,929 (GRCm39) Q2246L probably benign Het
Ide T C 19: 37,249,563 (GRCm39) M930V unknown Het
Kdm5a T C 6: 120,371,216 (GRCm39) probably null Het
Khnyn A G 14: 56,132,426 (GRCm39) T625A probably benign Het
Lrrtm1 T C 6: 77,221,169 (GRCm39) F209L possibly damaging Het
Med13 C A 11: 86,199,522 (GRCm39) probably benign Het
Myom2 A G 8: 15,119,685 (GRCm39) E147G probably benign Het
Myrip T A 9: 120,217,330 (GRCm39) V88D probably damaging Het
Nbeal2 T C 9: 110,460,482 (GRCm39) H1784R probably benign Het
Nlrp4e T A 7: 23,020,255 (GRCm39) C247* probably null Het
Nup54 G A 5: 92,572,294 (GRCm39) P252L probably benign Het
Or51ag1 A G 7: 103,156,003 (GRCm39) I50T possibly damaging Het
Otoa C A 7: 120,705,191 (GRCm39) N244K probably damaging Het
Pbrm1 G A 14: 30,804,561 (GRCm39) R960H probably damaging Het
Ptcd3 A T 6: 71,875,411 (GRCm39) N190K probably damaging Het
Rhobtb1 T A 10: 69,106,134 (GRCm39) L233H probably damaging Het
Sec24c T A 14: 20,739,757 (GRCm39) F545I probably damaging Het
Slc6a15 T C 10: 103,240,686 (GRCm39) probably null Het
Slitrk1 G A 14: 109,148,671 (GRCm39) A680V probably benign Het
Smpd1 C T 7: 105,204,655 (GRCm39) S178L probably benign Het
Spindoc A G 19: 7,360,042 (GRCm39) L42P probably damaging Het
Tenm4 A G 7: 96,544,419 (GRCm39) E2145G probably damaging Het
Tmem144 G T 3: 79,746,501 (GRCm39) A18E probably damaging Het
Tmem213 A T 6: 38,086,373 (GRCm39) S10C possibly damaging Het
Trav6-3 A T 14: 53,667,800 (GRCm39) I102L probably benign Het
Trip11 T G 12: 101,853,143 (GRCm39) N483T possibly damaging Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr27 T G 17: 15,137,488 (GRCm39) K433N probably damaging Het
Wls C A 3: 159,607,080 (GRCm39) S189* probably null Het
Yeats2 A G 16: 20,024,917 (GRCm39) N706D probably damaging Het
Zbp1 A G 2: 173,054,047 (GRCm39) V158A probably benign Het
Zfp595 G T 13: 67,465,847 (GRCm39) H139N possibly damaging Het
Other mutations in Det1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Det1 APN 7 78,489,807 (GRCm39) missense probably benign 0.00
IGL01611:Det1 APN 7 78,477,702 (GRCm39) missense possibly damaging 0.92
IGL02194:Det1 APN 7 78,489,912 (GRCm39) missense probably benign 0.00
IGL03387:Det1 APN 7 78,493,372 (GRCm39) missense possibly damaging 0.77
R0418:Det1 UTSW 7 78,493,765 (GRCm39) missense probably benign 0.08
R0633:Det1 UTSW 7 78,493,683 (GRCm39) missense probably benign 0.11
R1959:Det1 UTSW 7 78,493,191 (GRCm39) missense probably benign 0.08
R1966:Det1 UTSW 7 78,492,966 (GRCm39) missense probably damaging 1.00
R4612:Det1 UTSW 7 78,493,454 (GRCm39) missense probably damaging 1.00
R4809:Det1 UTSW 7 78,493,555 (GRCm39) missense probably damaging 1.00
R5193:Det1 UTSW 7 78,493,302 (GRCm39) missense probably damaging 1.00
R5661:Det1 UTSW 7 78,492,958 (GRCm39) missense probably damaging 0.97
R7106:Det1 UTSW 7 78,493,212 (GRCm39) missense probably damaging 1.00
R7673:Det1 UTSW 7 78,493,359 (GRCm39) missense possibly damaging 0.85
R8093:Det1 UTSW 7 78,493,257 (GRCm39) missense possibly damaging 0.87
R9009:Det1 UTSW 7 78,492,984 (GRCm39) missense probably benign 0.00
R9740:Det1 UTSW 7 78,494,001 (GRCm39) start codon destroyed probably null 0.86
Posted On 2014-05-07