Mutagenetix > Incidental Mutation

Incidental Mutation 'R0665:Dap3'

61976

Institutional Source

Beutler Lab

Gene Symbol

Dap3

Ensembl Gene

ENSMUSG00000068921

Gene Name

death associated protein 3

Synonyms

DAP-3, 4921514D13Rik

MMRRC Submission

038850-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0665 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

88828110-88858488 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 88838304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 78 (C78*)

Ref Sequence

ENSEMBL: ENSMUSP00000133395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090938] [ENSMUST00000107491] [ENSMUST00000172942] [ENSMUST00000173021] [ENSMUST00000173135] [ENSMUST00000174077] [ENSMUST00000174402] [ENSMUST00000174491]

AlphaFold

Q9ER88

Predicted Effect

probably null
Transcript: ENSMUST00000090938
AA Change: C96*

SMART Domains

Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921
AA Change: C96*

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

Predicted Effect

probably null
Transcript: ENSMUST00000107491
AA Change: C96*

SMART Domains

Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921
AA Change: C96*

Domain	Start	End	E-Value	Type
Pfam:DAP3	97	306	1e-67	PFAM
Pfam:DAP3	300	362	6.6e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000172942
AA Change: C62*

SMART Domains

Protein: ENSMUSP00000134145
Gene: ENSMUSG00000068921
AA Change: C62*

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

Predicted Effect

probably null
Transcript: ENSMUST00000173021
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000133314
Gene: ENSMUSG00000068921
AA Change: C91*

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

Predicted Effect

probably null
Transcript: ENSMUST00000173094
AA Change: C7*

SMART Domains

Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921
AA Change: C7*

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 null
Transcript: ENSMUST00000173135
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921
AA Change: C91*

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

Predicted Effect

probably null
Transcript: ENSMUST00000174077
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000134433
Gene: ENSMUSG00000068921
AA Change: C91*

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

Predicted Effect

probably null
Transcript: ENSMUST00000174402
AA Change: C78*

SMART Domains

Protein: ENSMUSP00000133395
Gene: ENSMUSG00000068921
AA Change: C78*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174491

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,631,554 (GRCm39)	Y304C	probably damaging	Het
B3galt2	T	C	1: 143,522,191 (GRCm39)	V109A	possibly damaging	Het
Chml	T	A	1: 175,515,461 (GRCm39)	E153D	probably benign	Het
Dnah8	T	C	17: 30,955,129 (GRCm39)	F2053L	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Espnl	T	G	1: 91,262,409 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,908,698 (GRCm39)	A2435T	probably benign	Het
Flnc	G	A	6: 29,455,530 (GRCm39)	V2027M	probably damaging	Het
Gtf2h2	C	T	13: 100,617,562 (GRCm39)	G200E	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnk10	T	C	12: 98,406,944 (GRCm39)	I251V	probably benign	Het
Kri1	G	A	9: 21,192,936 (GRCm39)		probably benign	Het
Lcmt1	G	A	7: 123,002,094 (GRCm39)	D120N	probably damaging	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Or12e1	A	G	2: 87,022,652 (GRCm39)	Y207C	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or5w13	C	T	2: 87,524,152 (GRCm39)	V25I	probably benign	Het
Phyhd1	A	G	2: 30,171,040 (GRCm39)	H241R	probably damaging	Het
Ppp2r5d	A	T	17: 46,997,330 (GRCm39)	N287K	probably damaging	Het
Ralgds	A	G	2: 28,435,218 (GRCm39)	H458R	probably damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trpc6	A	C	9: 8,634,123 (GRCm39)	T401P	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAATCAGCCAGTCATGTCTTGCAC -3'
(R):5'- TGGTATGGATTTTATTCCTGCCGTCAC -3'

Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- CTCAGCTATCAACTAAAATGCATGG -3'

Posted On

2013-07-30