Incidental Mutation 'R0560:Dele1'
ID 45847
Institutional Source Beutler Lab
Gene Symbol Dele1
Ensembl Gene ENSMUSG00000024442
Gene Name DAP3 binding cell death enhancer 1
Synonyms 0610009O20Rik
MMRRC Submission 038752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R0560 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 38383302-38395682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38387551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 230 (L230Q)
Ref Sequence ENSEMBL: ENSMUSP00000025314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025314]
AlphaFold Q9DCV6
Predicted Effect probably damaging
Transcript: ENSMUST00000025314
AA Change: L230Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025314
Gene: ENSMUSG00000024442
AA Change: L230Q

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
low complexity region 35 46 N/A INTRINSIC
low complexity region 127 140 N/A INTRINSIC
SEL1 244 277 1.53e2 SMART
SEL1 278 313 2.8e-9 SMART
SEL1 314 351 3.3e1 SMART
SEL1 352 385 1.31e0 SMART
SEL1 386 421 1.67e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181871
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (26/26)
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,055,101 (GRCm39) Y1334H probably damaging Het
Arsb A G 13: 93,926,706 (GRCm39) T159A possibly damaging Het
Asb18 A C 1: 89,942,250 (GRCm39) V17G probably damaging Het
Bicd1 A G 6: 149,413,460 (GRCm39) K284E probably benign Het
Bspry A G 4: 62,404,686 (GRCm39) R161G probably damaging Het
Ccdc138 A G 10: 58,411,539 (GRCm39) T636A probably damaging Het
Cubn A T 2: 13,433,491 (GRCm39) W1140R probably damaging Het
Cyp2t4 A G 7: 26,857,936 (GRCm39) T479A probably damaging Het
Dtx3l A G 16: 35,753,305 (GRCm39) S434P probably damaging Het
Duox2 A G 2: 122,122,035 (GRCm39) V611A probably benign Het
Epb41l3 T G 17: 69,581,892 (GRCm39) probably null Het
Fam161b C T 12: 84,404,492 (GRCm39) D63N probably damaging Het
Gm5422 G A 10: 31,125,240 (GRCm39) noncoding transcript Het
Gpr158 A T 2: 21,830,085 (GRCm39) D710V probably damaging Het
Krtcap2 T C 3: 89,156,449 (GRCm39) probably null Het
Mtrf1 T A 14: 79,644,290 (GRCm39) D199E probably damaging Het
Myorg G A 4: 41,498,167 (GRCm39) R488W probably damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Ncf2 T A 1: 152,697,273 (GRCm39) Y47N probably damaging Het
Ovgp1 T C 3: 105,893,726 (GRCm39) probably benign Het
Siglec1 G T 2: 130,912,266 (GRCm39) T1692N probably benign Het
Slc10a2 T C 8: 5,139,092 (GRCm39) N284S probably benign Het
Slfn3 T C 11: 83,103,978 (GRCm39) F283S probably damaging Het
Trank1 T C 9: 111,220,154 (GRCm39) F2297S possibly damaging Het
Vmn2r69 A G 7: 85,058,922 (GRCm39) probably null Het
Vps13d T C 4: 144,780,760 (GRCm39) E3957G probably damaging Het
Other mutations in Dele1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Dele1 APN 18 38,385,913 (GRCm39) missense probably damaging 0.96
IGL02456:Dele1 APN 18 38,394,177 (GRCm39) missense probably damaging 1.00
R0134:Dele1 UTSW 18 38,394,317 (GRCm39) missense probably benign 0.37
R0225:Dele1 UTSW 18 38,394,317 (GRCm39) missense probably benign 0.37
R0511:Dele1 UTSW 18 38,387,124 (GRCm39) critical splice donor site probably null
R1899:Dele1 UTSW 18 38,391,395 (GRCm39) missense probably benign 0.04
R3005:Dele1 UTSW 18 38,393,012 (GRCm39) missense possibly damaging 0.92
R3552:Dele1 UTSW 18 38,391,418 (GRCm39) splice site probably benign
R4418:Dele1 UTSW 18 38,394,340 (GRCm39) critical splice donor site probably null
R7448:Dele1 UTSW 18 38,390,319 (GRCm39) missense probably damaging 1.00
R7671:Dele1 UTSW 18 38,392,978 (GRCm39) missense probably damaging 0.99
R9126:Dele1 UTSW 18 38,384,210 (GRCm39) missense probably benign
R9294:Dele1 UTSW 18 38,394,129 (GRCm39) missense probably damaging 1.00
Z1177:Dele1 UTSW 18 38,387,356 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCCCAGTGACTTTGACTTCCTGC -3'
(R):5'- ACCATGCCACATCTGGTCTACCTAC -3'

Sequencing Primer
(F):5'- TAGCCGAGACTTCGCATCC -3'
(R):5'- cacatctggtctacctaccCAAG -3'
Posted On 2013-06-11