Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02453:Dap3'

293729

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 #

IGL02453

Quality Score

Status

Chromosome

Chromosomal Location

88828110-88858488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88835634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 240 (V240A)

Ref Sequence

ENSEMBL: ENSMUSP00000103115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090938] [ENSMUST00000107491] [ENSMUST00000172942] [ENSMUST00000173021] [ENSMUST00000173135] [ENSMUST00000174402] [ENSMUST00000174077]

AlphaFold

Q9ER88

Predicted Effect

probably benign
Transcript: ENSMUST00000090938
AA Change: V240A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921
AA Change: V240A

Domain	Start	End	E-Value	Type
Pfam:DAP3	97	392	2.1e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107491
AA Change: V240A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921
AA Change: V240A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:DAP3	63	133	4.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173021

SMART Domains

Protein: ENSMUSP00000133314
Gene: ENSMUSG00000068921

Domain	Start	End	E-Value	Type
Pfam:DAP3	92	200	2.4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173094

SMART Domains

Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921

Domain	Start	End	E-Value	Type
Pfam:DAP3	9	140	6.5e-48	PFAM
Pfam:DAP3	134	251	4.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173135
AA Change: V235A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921
AA Change: V235A

Domain	Start	End	E-Value	Type
Pfam:DAP3	92	387	8e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173711

Predicted Effect

probably benign
Transcript: ENSMUST00000174571

SMART Domains

Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921

Domain	Start	End	E-Value	Type
Pfam:DAP3	1	102	4.7e-36	PFAM
Pfam:DAP3	99	213	7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174402

SMART Domains

Protein: ENSMUSP00000133395
Gene: ENSMUSG00000068921

Domain	Start	End	E-Value	Type
Pfam:DAP3	79	165	1.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174077

SMART Domains

Protein: ENSMUSP00000134433
Gene: ENSMUSG00000068921

Domain	Start	End	E-Value	Type
Pfam:DAP3	92	212	7.1e-44	PFAM

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,950,075 (GRCm39)		probably null	Het
Actr1b	A	G	1: 36,741,588 (GRCm39)	S51P	probably damaging	Het
Cdhr3	T	C	12: 33,092,502 (GRCm39)	Y703C	probably damaging	Het
Col9a1	A	T	1: 24,218,438 (GRCm39)	L54F	unknown	Het
Crim1	A	G	17: 78,651,913 (GRCm39)	K546E	probably damaging	Het
Dmtf1l	G	T	X: 125,722,223 (GRCm39)	S294*	probably null	Het
Dmtf1l	T	C	X: 125,722,686 (GRCm39)	I140V	possibly damaging	Het
Hadha	T	C	5: 30,349,304 (GRCm39)		probably benign	Het
Imp3	G	T	9: 56,845,293 (GRCm39)	R168L	probably benign	Het
Or1b1	A	T	2: 36,995,209 (GRCm39)	V151E	probably benign	Het
Otop2	T	A	11: 115,215,455 (GRCm39)	Y125*	probably null	Het
Pacs1	A	G	19: 5,185,033 (GRCm39)	W931R	probably damaging	Het
Rasgrf1	A	T	9: 89,826,813 (GRCm39)	M141L	possibly damaging	Het
Ryr3	C	A	2: 112,512,073 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,476,520 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,396,432 (GRCm39)	M173K	possibly damaging	Het
Tmem63a	G	A	1: 180,790,634 (GRCm39)	V431M	probably benign	Het
Vmn2r114	T	A	17: 23,530,108 (GRCm39)	T100S	probably benign	Het
Wdr45	T	C	X: 7,593,520 (GRCm39)		probably null	Het

Other mutations in Dap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2015-04-16