Incidental Mutation 'IGL02989:Dap3'
ID 406868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dap3
Ensembl Gene ENSMUSG00000068921
Gene Name death associated protein 3
Synonyms DAP-3, 4921514D13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02989
Quality Score
Status
Chromosome 3
Chromosomal Location 88828110-88858488 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 88837878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000090938] [ENSMUST00000107491] [ENSMUST00000172942] [ENSMUST00000173021] [ENSMUST00000173135] [ENSMUST00000174077] [ENSMUST00000174402] [ENSMUST00000174491]
AlphaFold Q9ER88
Predicted Effect probably benign
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: ENSMUST00000174571
SMART Domains Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921

DomainStartEndE-ValueType
Pfam:DAP3 1 102 4.7e-36 PFAM
Pfam:DAP3 99 213 7e-24 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: ENSMUST00000174491
Coding Region Coverage
Validation Efficiency
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
Aldh1a1 T A 19: 20,617,422 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,670,748 (GRCm39) D44G probably damaging Het
Arhgap35 A T 7: 16,231,580 (GRCm39) *1500R probably null Het
Arid1b A G 17: 5,385,322 (GRCm39) Y1413C probably damaging Het
Atf6 A G 1: 170,616,252 (GRCm39) probably benign Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccdc187 G A 2: 26,166,443 (GRCm39) R712W possibly damaging Het
Clpb T C 7: 101,428,427 (GRCm39) S396P probably damaging Het
Cntnap5a A G 1: 116,339,813 (GRCm39) probably benign Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Eprs1 T G 1: 185,150,563 (GRCm39) F1355C probably benign Het
Faim2 A G 15: 99,418,243 (GRCm39) probably benign Het
Fancg A G 4: 43,007,121 (GRCm39) probably benign Het
Fbxo42 T A 4: 140,926,845 (GRCm39) I375N probably damaging Het
Gabrr3 A T 16: 59,268,371 (GRCm39) D328V probably damaging Het
Gm5849 T A 3: 90,685,107 (GRCm39) D26V probably damaging Het
Gm6563 T C 19: 23,653,234 (GRCm39) L8P possibly damaging Het
Gpld1 A G 13: 25,174,019 (GRCm39) N815D possibly damaging Het
Hrob A G 11: 102,146,125 (GRCm39) I134V probably benign Het
Idh2 T A 7: 79,748,856 (GRCm39) I142F probably damaging Het
Kcnh7 A C 2: 62,552,269 (GRCm39) N907K probably benign Het
Mcm3ap A G 10: 76,306,894 (GRCm39) T336A possibly damaging Het
Or4c15 A T 2: 88,760,048 (GRCm39) S204T possibly damaging Het
Or52i2 T C 7: 102,319,651 (GRCm39) S175P possibly damaging Het
Or5b3 C A 19: 13,388,850 (GRCm39) Q306K probably benign Het
Pilrb1 C A 5: 137,855,492 (GRCm39) R133L possibly damaging Het
Pitpnm3 C A 11: 72,011,012 (GRCm39) probably benign Het
Prkdc C T 16: 15,617,880 (GRCm39) T3237I possibly damaging Het
Pspc1 A G 14: 57,009,153 (GRCm39) probably benign Het
Rasgrp4 G A 7: 28,847,831 (GRCm39) E414K probably damaging Het
Rgs12 T A 5: 35,122,463 (GRCm39) L82Q probably damaging Het
Sh3gl3 T C 7: 81,923,087 (GRCm39) V117A probably benign Het
Shisa5 G A 9: 108,885,062 (GRCm39) A112T probably damaging Het
Tasor2 A T 13: 3,634,820 (GRCm39) H662Q probably benign Het
Tedc1 A G 12: 113,126,941 (GRCm39) E401G probably benign Het
Tsc22d1 T C 14: 76,656,341 (GRCm39) M940T probably benign Het
Vmn1r129 A T 7: 21,094,663 (GRCm39) V185E probably damaging Het
Zfp982 C A 4: 147,597,052 (GRCm39) D136E possibly damaging 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
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
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 2016-08-02