Incidental Mutation 'R8808:Dap3'
ID 672199
Institutional Source Beutler Lab
Gene Symbol Dap3
Ensembl Gene ENSMUSG00000068921
Gene Name death associated protein 3
Synonyms DAP-3, 4921514D13Rik
MMRRC Submission 068644-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8808 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88828110-88858488 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 88835514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090938] [ENSMUST00000107491] [ENSMUST00000172942] [ENSMUST00000173021] [ENSMUST00000173135] [ENSMUST00000174077] [ENSMUST00000174402]
AlphaFold Q9ER88
Predicted Effect probably null
Transcript: ENSMUST00000090938
SMART Domains Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 97 392 2.1e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107491
SMART Domains Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921

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 probably benign
Transcript: ENSMUST00000173094
SMART Domains Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 9 140 6.5e-48 PFAM
Pfam:DAP3 134 251 4.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173135
SMART Domains Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 92 387 8e-90 PFAM
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
Predicted Effect probably benign
Transcript: ENSMUST00000174571
SMART Domains Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 1 102 4.7e-36 PFAM
Pfam:DAP3 99 213 7e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (60/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,775,874 (GRCm39) P1688S probably benign Het
4933412E24Rik T C 15: 59,887,919 (GRCm39) T174A probably benign Het
Actl10 T A 2: 154,395,068 (GRCm39) L340Q probably damaging Het
Adra1d T C 2: 131,403,397 (GRCm39) E231G probably damaging Het
Agt T A 8: 125,291,028 (GRCm39) D93V probably benign Het
Als2cl G T 9: 110,718,282 (GRCm39) R341L possibly damaging Het
Ankrd63 G T 2: 118,533,549 (GRCm39) A124E unknown Het
Aqp8 T C 7: 123,065,922 (GRCm39) L239P probably damaging Het
Arhgef11 A G 3: 87,593,336 (GRCm39) E85G probably damaging Het
Cacng4 T A 11: 107,685,209 (GRCm39) I28F possibly damaging Het
Cc2d1a T C 8: 84,861,599 (GRCm39) D741G probably damaging Het
Cct8l1 T A 5: 25,722,210 (GRCm39) N308K possibly damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Chrna5 T A 9: 54,905,348 (GRCm39) D53E probably benign Het
Disp2 A G 2: 118,620,489 (GRCm39) Y407C probably damaging Het
Dnah1 A G 14: 31,008,771 (GRCm39) M2001T probably benign Het
Dysf C G 6: 83,996,466 (GRCm39) probably benign Het
Eif2ak1 A T 5: 143,816,264 (GRCm39) K187N probably damaging Het
Ethe1 T C 7: 24,294,496 (GRCm39) S100P probably damaging Het
Fam186a G C 15: 99,842,604 (GRCm39) I1213M possibly damaging Het
Gbp9 A G 5: 105,232,875 (GRCm39) F259S probably damaging Het
Heatr5b G A 17: 79,072,834 (GRCm39) H1610Y possibly damaging Het
Hk2 T A 6: 82,705,747 (GRCm39) D852V probably benign Het
Hmcn1 T A 1: 150,531,570 (GRCm39) Q3233L possibly damaging Het
Htt T A 5: 35,046,791 (GRCm39) V2369E probably benign Het
Il9 C A 13: 56,629,942 (GRCm39) E35* probably null Het
Itga8 A T 2: 12,137,328 (GRCm39) C933* probably null Het
Jak3 A G 8: 72,138,164 (GRCm39) K872E possibly damaging Het
Kcnmb2 A C 3: 32,252,266 (GRCm39) M156L probably benign Het
Kdm4a C T 4: 117,999,480 (GRCm39) V981I unknown Het
Klhl38 A T 15: 58,178,225 (GRCm39) *582R probably null Het
Map3k19 A G 1: 127,751,866 (GRCm39) F495S probably damaging Het
Mpeg1 T A 19: 12,440,443 (GRCm39) W634R probably damaging Het
Mrpl4 T A 9: 20,918,978 (GRCm39) Y202N possibly damaging Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Or4k36 A T 2: 111,146,239 (GRCm39) R138S possibly damaging Het
Or8k33 G A 2: 86,384,297 (GRCm39) T57M probably damaging Het
Pcdhgb6 A G 18: 37,876,451 (GRCm39) I386M possibly damaging Het
Pitpnm1 T A 19: 4,162,356 (GRCm39) V1062E possibly damaging Het
Plekhm3 G A 1: 64,922,355 (GRCm39) R607W possibly damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Prap1 C A 7: 139,676,982 (GRCm39) H141Q probably damaging Het
Prep T A 10: 44,971,252 (GRCm39) Y187* probably null Het
Rergl T G 6: 139,478,865 (GRCm39) E3A probably benign Het
Rnf19a A T 15: 36,242,021 (GRCm39) S673T probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
St18 G A 1: 6,880,826 (GRCm39) E440K probably damaging Het
Syne1 T A 10: 5,309,074 (GRCm39) Q645L probably damaging Het
Tmcc1 A T 6: 116,111,098 (GRCm39) V61E Het
Tmcc1 C A 6: 116,111,099 (GRCm39) V61L Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem201 C A 4: 149,814,138 (GRCm39) R154L possibly damaging Het
Tmem71 G A 15: 66,410,655 (GRCm39) A239V possibly damaging Het
Tpgs2 A G 18: 25,284,275 (GRCm39) W78R probably damaging Het
Tssc4 T C 7: 142,623,436 (GRCm39) V22A unknown Het
Ttn T A 2: 76,723,128 (GRCm39) E6496D unknown Het
Ttn T A 2: 76,697,539 (GRCm39) L227F Het
Vps50 G T 6: 3,522,338 (GRCm39) G169* probably null Het
Yy1 CGGCGACCACGGCGGCGGCGGGGGCG CGGCG 12: 108,759,506 (GRCm39) probably benign Het
Zfp407 T C 18: 84,361,185 (GRCm39) K1703R probably benign Het
Zfp616 T G 11: 73,976,523 (GRCm39) C931G probably damaging Het
Zfp949 G A 9: 88,451,417 (GRCm39) C329Y probably damaging Het
Zswim5 T A 4: 116,822,887 (GRCm39) D452E 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
R0094:Dap3 UTSW 3 88,834,335 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CTGCTGGCTTTACAATTCAGTC -3'
(R):5'- AGTTATACCGTGTCCTAGCCAG -3'

Sequencing Primer
(F):5'- GATACATGGTTGTGAACTGTCCAC -3'
(R):5'- TGTCCTAGCCAGAGCAGTCAG -3'
Posted On 2021-04-30