Incidental Mutation 'R0094:Dap3'
ID 17212
Institutional Source Beutler Lab
Gene Symbol Dap3
Ensembl Gene ENSMUSG00000068921
Gene Name death associated protein 3
Synonyms DAP-3, 4921514D13Rik
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0094 (G1)
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 88828110-88858488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88834335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 294 (M294L)
Ref Sequence ENSEMBL: ENSMUSP00000103115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090938] [ENSMUST00000107491] [ENSMUST00000172942] [ENSMUST00000173021] [ENSMUST00000173135] [ENSMUST00000174077] [ENSMUST00000174402]
AlphaFold Q9ER88
Predicted Effect probably benign
Transcript: ENSMUST00000090938
AA Change: M294L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921
AA Change: M294L

DomainStartEndE-ValueType
Pfam:DAP3 97 392 2.1e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107491
AA Change: M294L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921
AA Change: M294L

DomainStartEndE-ValueType
Pfam:DAP3 97 306 1e-67 PFAM
Pfam:DAP3 300 362 6.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172942
SMART Domains Protein: ENSMUSP00000134145
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 63 133 4.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173021
SMART Domains Protein: ENSMUSP00000133314
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 92 200 2.4e-39 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000173094
AA Change: M152L
SMART Domains Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921
AA Change: M152L

DomainStartEndE-ValueType
Pfam:DAP3 9 140 6.5e-48 PFAM
Pfam:DAP3 134 251 4.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173135
AA Change: M289L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921
AA Change: M289L

DomainStartEndE-ValueType
Pfam:DAP3 92 387 8e-90 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000174571
AA Change: M114L
SMART Domains Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921
AA Change: M114L

DomainStartEndE-ValueType
Pfam:DAP3 1 102 4.7e-36 PFAM
Pfam:DAP3 99 213 7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173711
Predicted Effect probably benign
Transcript: ENSMUST00000174077
SMART Domains Protein: ENSMUSP00000134433
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 92 212 7.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174402
SMART Domains Protein: ENSMUSP00000133395
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 79 165 1.7e-30 PFAM
Meta Mutation Damage Score 0.1944 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality with defects in mitochondria morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,203,427 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,260,236 (GRCm39) noncoding transcript Het
4931429L15Rik T A 9: 46,218,184 (GRCm39) T185S possibly damaging Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Ankrd12 A T 17: 66,277,171 (GRCm39) D2034E probably damaging Het
B3gnt2 T C 11: 22,786,655 (GRCm39) R178G probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Ctsj A C 13: 61,151,519 (GRCm39) probably null Het
Ddias T C 7: 92,509,108 (GRCm39) N269S possibly damaging Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Eif2b1 A G 5: 124,709,829 (GRCm39) F250L probably benign Het
Emc1 T A 4: 139,087,796 (GRCm39) F100Y probably damaging Het
Hfm1 T A 5: 107,065,344 (GRCm39) M112L probably benign Het
Lipg T C 18: 75,078,917 (GRCm39) Y445C probably benign Het
Lrp1b T C 2: 41,172,042 (GRCm39) probably benign Het
Ltbp2 A G 12: 84,846,200 (GRCm39) Y897H probably damaging Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mvd C T 8: 123,166,442 (GRCm39) R65H probably benign Het
Mybpc2 A G 7: 44,166,328 (GRCm39) Y221H probably damaging Het
Nbeal1 T A 1: 60,344,468 (GRCm39) I2323N possibly damaging Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Otol1 G A 3: 69,926,016 (GRCm39) A64T probably benign Het
Pcdh8 G T 14: 80,005,588 (GRCm39) D933E probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rad54b T C 4: 11,599,681 (GRCm39) V72A possibly damaging Het
Ranbp3 A G 17: 57,016,338 (GRCm39) probably benign Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Serping1 T G 2: 84,603,620 (GRCm39) R140S probably benign Het
Slc34a2 T C 5: 53,221,310 (GRCm39) F252S probably benign Het
Spata45 A G 1: 190,772,059 (GRCm39) probably benign Het
Sptan1 T C 2: 29,896,635 (GRCm39) S1174P probably benign Het
Ss18l2 T C 9: 121,541,699 (GRCm39) L64P probably benign Het
Tmem81 A G 1: 132,435,787 (GRCm39) I198V probably benign Het
Trappc9 A T 15: 72,894,929 (GRCm38) probably benign Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Zzef1 C T 11: 72,708,791 (GRCm39) T130I probably benign Het
Other mutations in Dap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Dap3 APN 3 88,843,535 (GRCm39) missense probably benign 0.23
IGL02111:Dap3 APN 3 88,836,725 (GRCm39) missense probably benign 0.26
IGL02453:Dap3 APN 3 88,835,634 (GRCm39) missense probably benign 0.07
IGL02989:Dap3 APN 3 88,837,878 (GRCm39) splice site probably benign
R0665:Dap3 UTSW 3 88,838,304 (GRCm39) nonsense probably null
R1853:Dap3 UTSW 3 88,838,233 (GRCm39) missense probably damaging 1.00
R1885:Dap3 UTSW 3 88,838,281 (GRCm39) missense probably damaging 1.00
R1887:Dap3 UTSW 3 88,838,281 (GRCm39) missense probably damaging 1.00
R2351:Dap3 UTSW 3 88,840,870 (GRCm39) critical splice donor site probably null
R2513:Dap3 UTSW 3 88,835,565 (GRCm39) missense probably benign 0.15
R4449:Dap3 UTSW 3 88,857,185 (GRCm39) unclassified probably benign
R4749:Dap3 UTSW 3 88,833,617 (GRCm39) missense probably benign 0.00
R5359:Dap3 UTSW 3 88,838,296 (GRCm39) missense probably damaging 1.00
R5502:Dap3 UTSW 3 88,832,633 (GRCm39) missense probably damaging 1.00
R6899:Dap3 UTSW 3 88,840,907 (GRCm39) missense probably benign 0.01
R6919:Dap3 UTSW 3 88,838,296 (GRCm39) missense probably damaging 0.98
R6946:Dap3 UTSW 3 88,845,523 (GRCm39) start gained probably benign
R7990:Dap3 UTSW 3 88,835,814 (GRCm39) nonsense probably null
R8188:Dap3 UTSW 3 88,843,543 (GRCm39) missense probably benign 0.00
R8768:Dap3 UTSW 3 88,834,334 (GRCm39) missense probably damaging 0.96
R8808:Dap3 UTSW 3 88,835,514 (GRCm39) critical splice donor site probably null
R8954:Dap3 UTSW 3 88,835,570 (GRCm39) missense probably damaging 1.00
R9090:Dap3 UTSW 3 88,840,913 (GRCm39) missense probably benign 0.00
R9123:Dap3 UTSW 3 88,837,861 (GRCm39) missense probably benign 0.41
R9125:Dap3 UTSW 3 88,837,861 (GRCm39) missense probably benign 0.41
R9158:Dap3 UTSW 3 88,832,637 (GRCm39) missense probably damaging 1.00
R9271:Dap3 UTSW 3 88,840,913 (GRCm39) missense probably benign 0.00
Posted On 2013-01-20