Mutagenetix > Incidental Mutation

Incidental Mutation 'R8768:Dap3'

664205

Institutional Source

Beutler Lab

Gene Symbol

Dap3

Ensembl Gene

ENSMUSG00000068921

Gene Name

death associated protein 3

Synonyms

DAP-3, 4921514D13Rik

MMRRC Submission

068623-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88828110-88858488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88834334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 294 (M294T)

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 damaging
Transcript: ENSMUST00000090938
AA Change: M294T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921
AA Change: M294T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107491
AA Change: M294T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921
AA Change: M294T

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

SMART Domains

Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921
AA Change: M152T

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 damaging
Transcript: ENSMUST00000173135
AA Change: M289T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921
AA Change: M289T

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

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

SMART Domains

Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921
AA Change: M114T

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

Meta Mutation Damage Score

0.8105

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (76/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,740,588 (GRCm39)	C222S	probably benign	Het
Actrt3	T	G	3: 30,651,992 (GRCm39)	R367S	probably damaging	Het
Alg1	T	C	16: 5,060,416 (GRCm39)	V379A	probably damaging	Het
Ankrd36	A	G	11: 5,593,763 (GRCm39)	E456G	probably benign	Het
Arhgef33	G	T	17: 80,681,148 (GRCm39)	A763S	possibly damaging	Het
Armc5	T	G	7: 127,841,783 (GRCm39)	V597G	probably benign	Het
Asb10	G	T	5: 24,738,690 (GRCm39)	R456S	probably damaging	Het
Asph	A	G	4: 9,453,417 (GRCm39)	F702L	probably damaging	Het
Atf7	T	A	15: 102,449,324 (GRCm39)	T326S	probably benign	Het
Atxn7l2	T	C	3: 108,114,250 (GRCm39)	N171D	probably benign	Het
BC049715	T	A	6: 136,816,979 (GRCm39)	M73K	possibly damaging	Het
C2cd6	A	G	1: 59,105,312 (GRCm39)	V322A	probably benign	Het
Cadps2	A	C	6: 23,382,938 (GRCm39)	C807W	probably damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Ccdc89	T	C	7: 90,075,793 (GRCm39)	M1T	probably null	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Csmd3	T	A	15: 47,561,572 (GRCm39)	I1335F		Het
Dbh	A	G	2: 27,060,328 (GRCm39)	D168G	probably benign	Het
Dchs2	C	A	3: 83,253,592 (GRCm39)	A2334E	probably benign	Het
Dcun1d4	T	A	5: 73,678,310 (GRCm39)	Y102N	probably benign	Het
Dhtkd1	T	C	2: 5,903,533 (GRCm39)	T918A	probably benign	Het
Dmgdh	C	T	13: 93,825,118 (GRCm39)	T147I	possibly damaging	Het
Dmxl2	T	G	9: 54,301,105 (GRCm39)	K2335N	possibly damaging	Het
Efna5	T	C	17: 63,188,125 (GRCm39)	M1V	probably null	Het
Fpr-rs3	T	C	17: 20,844,944 (GRCm39)	N66D	probably damaging	Het
Gas2l2	C	A	11: 83,313,999 (GRCm39)	A438S	probably benign	Het
Hivep3	T	C	4: 119,989,521 (GRCm39)	S1991P	probably damaging	Het
Hsp90b1	A	T	10: 86,541,169 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,878,102 (GRCm39)	N875K	probably damaging	Het
Jag1	A	C	2: 136,943,521 (GRCm39)	M225R	possibly damaging	Het
Jag1	T	C	2: 136,932,708 (GRCm39)		probably benign	Het
Kcnn2	C	T	18: 45,692,502 (GRCm39)	S26L	possibly damaging	Het
Kctd2	T	C	11: 115,311,279 (GRCm39)	S96P	probably damaging	Het
Klhl25	A	G	7: 75,516,359 (GRCm39)	N422D	probably damaging	Het
Lhx8	A	T	3: 154,027,886 (GRCm39)	V222E	possibly damaging	Het
Lrig1	A	T	6: 94,631,840 (GRCm39)	V120D	possibly damaging	Het
Manba	T	A	3: 135,256,995 (GRCm39)	S553T	probably damaging	Het
Mllt10	T	A	2: 18,167,583 (GRCm39)	S503T	probably damaging	Het
Nxpe4	A	G	9: 48,304,050 (GRCm39)	N46D	probably benign	Het
Or1l4b	C	T	2: 37,037,016 (GRCm39)	S264L	probably benign	Het
Or8b50	A	C	9: 38,518,441 (GRCm39)	K227Q	probably benign	Het
Pdzd2	C	T	15: 12,437,252 (GRCm39)	E450K	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Plch2	C	A	4: 155,083,324 (GRCm39)	G538V	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,897 (GRCm39)	I235N	probably damaging	Het
Prdm15	A	T	16: 97,638,888 (GRCm39)	D57E	probably benign	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptger4	T	A	15: 5,272,138 (GRCm39)	R185S	probably benign	Het
Ptp4a2	T	A	4: 129,740,299 (GRCm39)	M121K	probably damaging	Het
Ptpre	T	G	7: 135,283,306 (GRCm39)	F659V	possibly damaging	Het
Rad54l2	T	G	9: 106,596,809 (GRCm39)	D199A	probably benign	Het
Rap1gds1	T	C	3: 138,647,521 (GRCm39)	M556V	probably benign	Het
Scaf8	T	C	17: 3,243,349 (GRCm39)	V711A	probably benign	Het
Sesn3	G	A	9: 14,225,964 (GRCm39)	C233Y	probably damaging	Het
Slc45a1	T	A	4: 150,714,206 (GRCm39)	I680F	probably damaging	Het
Slco1a6	C	T	6: 142,078,897 (GRCm39)	V133M	probably benign	Het
Syt6	T	C	3: 103,492,850 (GRCm39)	L119P	probably benign	Het
Szt2	A	C	4: 118,226,613 (GRCm39)	S2974R	unknown	Het
Taok1	A	T	11: 77,444,712 (GRCm39)	H454Q	probably damaging	Het
Tbx10	G	A	19: 4,047,303 (GRCm39)	V136M	probably damaging	Het
Tespa1	A	G	10: 130,198,027 (GRCm39)	T350A	probably benign	Het
Tnks1bp1	T	A	2: 84,900,980 (GRCm39)	Y1562*	probably null	Het
Trank1	T	A	9: 111,218,344 (GRCm39)	F1908Y	probably benign	Het
Trav6d-4	A	T	14: 52,991,243 (GRCm39)	H96L	possibly damaging	Het
Tspoap1	T	C	11: 87,669,197 (GRCm39)	I1490T	probably benign	Het
Ttc21a	T	C	9: 119,770,286 (GRCm39)	F119S	probably damaging	Het
Ttll3	T	G	6: 113,385,949 (GRCm39)	M594R	probably damaging	Het
Ttn	T	A	2: 76,798,790 (GRCm39)	R495*	probably null	Het
Twf1	A	C	15: 94,479,110 (GRCm39)	L250V	probably damaging	Het
Ubr4	A	T	4: 139,149,076 (GRCm39)	E458D		Het
Unc50	T	C	1: 37,476,244 (GRCm39)	F135L	probably benign	Het
Vwa3a	T	A	7: 120,375,299 (GRCm39)	I371N	probably damaging	Het
Zfp180	T	C	7: 23,805,161 (GRCm39)	S527P	probably damaging	Het
Zfp512	T	A	5: 31,630,882 (GRCm39)	I408N	probably damaging	Het
Zfp57	A	G	17: 37,317,077 (GRCm39)	T52A	probably benign	Het
Zranb2	A	G	3: 157,247,327 (GRCm39)		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
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
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'- CAGAGTGAGCCCATCATATCTTG -3'
(R):5'- CGGAGGAAGTATGTTCATGTGCTAG -3'

Sequencing Primer
(F):5'- TATGAGCTCCAGGACAGCCATG -3'
(R):5'- ATGTTCATGTGCTAGGGTTATAGC -3'

Posted On

2021-03-08