Mutagenetix > Incidental Mutation

Incidental Mutation 'R1887:Dap3'

209620

Institutional Source

Beutler Lab

Gene Symbol

Dap3

Ensembl Gene

ENSMUSG00000068921

Gene Name

death associated protein 3

Synonyms

DAP-3, 4921514D13Rik

MMRRC Submission

039908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88828110-88858488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88838281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 86 (L86P)

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 damaging
Transcript: ENSMUST00000090938
AA Change: L104P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088456
Gene: ENSMUSG00000068921
AA Change: L104P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107491
AA Change: L104P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103115
Gene: ENSMUSG00000068921
AA Change: L104P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172942
AA Change: L70P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134145
Gene: ENSMUSG00000068921
AA Change: L70P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173021
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133314
Gene: ENSMUSG00000068921
AA Change: L99P

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

Predicted Effect

unknown
Transcript: ENSMUST00000173094
AA Change: L15P

SMART Domains

Protein: ENSMUSP00000133486
Gene: ENSMUSG00000068921
AA Change: L15P

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: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134422
Gene: ENSMUSG00000068921
AA Change: L99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174077
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134433
Gene: ENSMUSG00000068921
AA Change: L99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174402
AA Change: L86P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133395
Gene: ENSMUSG00000068921
AA Change: L86P

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

Predicted Effect

unknown
Transcript: ENSMUST00000174571
AA Change: L4P

SMART Domains

Protein: ENSMUSP00000133349
Gene: ENSMUSG00000068921
AA Change: L4P

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: ENSMUST00000174491

Coding Region Coverage

1x: 97.1%
3x: 96.1%
10x: 93.2%
20x: 86.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
4930544D05Rik	A	G	11: 70,507,249 (GRCm39)	E98G	probably damaging	Het
Abca8a	A	T	11: 109,980,768 (GRCm39)	M90K	probably damaging	Het
Adamts9	A	G	6: 92,849,769 (GRCm39)		probably null	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Akr1c18	T	A	13: 4,193,287 (GRCm39)	N126I	probably benign	Het
Ankmy2	T	A	12: 36,220,467 (GRCm39)	M51K	possibly damaging	Het
Antkmt	C	A	17: 26,010,319 (GRCm39)		probably null	Het
Apc	A	G	18: 34,405,521 (GRCm39)	E159G	probably damaging	Het
Arhgef28	G	T	13: 98,282,081 (GRCm39)	S4R	probably damaging	Het
Atg2b	G	A	12: 105,620,351 (GRCm39)	T784M	probably benign	Het
Atp11a	A	G	8: 12,862,324 (GRCm39)	N59D	probably damaging	Het
Cacna1h	T	C	17: 25,595,861 (GRCm39)	Y1875C	probably benign	Het
Capza1	A	T	3: 104,747,096 (GRCm39)		probably null	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdcp2	T	C	4: 106,959,899 (GRCm39)	F105L	probably damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cep152	A	T	2: 125,462,225 (GRCm39)	M58K	probably benign	Het
Comtd1	A	G	14: 21,897,809 (GRCm39)	L108P	probably damaging	Het
Cyp2b13	A	G	7: 25,788,075 (GRCm39)	Y401C	probably damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Eea1	T	A	10: 95,854,073 (GRCm39)		probably null	Het
Eeig1	T	A	2: 32,450,140 (GRCm39)	N129K	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,221,380 (GRCm39)	V157A	probably damaging	Het
Fat3	T	A	9: 15,878,357 (GRCm39)	I3375F	probably damaging	Het
Fmod	A	G	1: 133,968,551 (GRCm39)	E197G	possibly damaging	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gpatch1	A	T	7: 35,002,813 (GRCm39)	N232K	probably damaging	Het
H2-Q4	A	G	17: 35,599,113 (GRCm39)	R128G	possibly damaging	Het
Hc	T	C	2: 34,924,623 (GRCm39)	I435V	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Il23r	A	T	6: 67,450,785 (GRCm39)	D231E	possibly damaging	Het
Irag1	A	G	7: 110,523,740 (GRCm39)		probably null	Het
Kcnt2	T	A	1: 140,511,985 (GRCm39)	S1023T	probably damaging	Het
Klc2	A	G	19: 5,158,640 (GRCm39)	V618A	probably benign	Het
Lzts1	T	C	8: 69,591,485 (GRCm39)	D221G	probably damaging	Het
Mdn1	G	C	4: 32,742,540 (GRCm39)	R3926P	probably damaging	Het
Med24	A	G	11: 98,609,642 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,754,098 (GRCm39)	L869Q	probably damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlrp5	T	A	7: 23,116,909 (GRCm39)	V211D	probably damaging	Het
Nr1h4	A	T	10: 89,290,729 (GRCm39)	M433K	possibly damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or8k22	A	G	2: 86,163,617 (GRCm39)	F28L	possibly damaging	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pik3cd	T	A	4: 149,737,091 (GRCm39)	I902F	probably damaging	Het
Pip5kl1	A	G	2: 32,468,517 (GRCm39)	T198A	probably damaging	Het
Prkdc	T	C	16: 15,647,499 (GRCm39)	V3641A	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Rpl37	C	T	15: 5,148,072 (GRCm39)	T83M	possibly damaging	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Serinc5	A	T	13: 92,838,214 (GRCm39)	D340V	possibly damaging	Het
Stambpl1	A	G	19: 34,213,808 (GRCm39)	I346V	probably benign	Het
Syna	G	A	5: 134,588,106 (GRCm39)	S281L	probably benign	Het
Tcstv2a	G	T	13: 120,725,604 (GRCm39)	K89N	probably damaging	Het
Tet2	T	C	3: 133,193,094 (GRCm39)	T447A	possibly damaging	Het
Tgfbr3	A	G	5: 107,284,874 (GRCm39)	F592L	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Ttc6	T	A	12: 57,720,044 (GRCm39)	S872T	probably benign	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ubr4	T	C	4: 139,182,871 (GRCm39)	L419P	probably damaging	Het
Ush2a	C	A	1: 188,132,177 (GRCm39)	Q800K	probably benign	Het
Vmn2r115	T	C	17: 23,565,007 (GRCm39)	I298T	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,288 (GRCm39)	T320A	possibly damaging	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	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
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'- TCAGAAGCAACATGTTTCCCAC -3'
(R):5'- TGATTTCCAAATCTAACCCAAGCTC -3'

Sequencing Primer
(F):5'- ACATGTTTCCCACCAACAGCATTTC -3'
(R):5'- GCTCTCAGACCTGGACACAG -3'

Posted On

2014-06-30