Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Dap3'

209416

Institutional Source

Beutler Lab

Gene Symbol

Dap3

Ensembl Gene

ENSMUSG00000068921

Gene Name

death associated protein 3

Synonyms

DAP-3, 4921514D13Rik

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1885 (G1)

Quality Score

207

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: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102 (GRCm38)	M393I	probably benign	Het
Adcy10	A	G	1: 165,398,377 (GRCm39)	I1491M	probably benign	Het
Adcy3	T	A	12: 4,184,951 (GRCm39)	V209E	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Apobec3	A	T	15: 79,781,906 (GRCm39)	H82L	probably damaging	Het
Atg9b	A	T	5: 24,593,252 (GRCm39)	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,904,661 (GRCm39)	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,721,280 (GRCm39)	A205D	probably benign	Het
B4galnt3	T	C	6: 120,200,601 (GRCm39)	E223G	probably damaging	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Caprin2	A	T	6: 148,779,383 (GRCm39)		probably null	Het
Cblif	G	A	19: 11,729,688 (GRCm39)	A216T	probably benign	Het
Ccdc80	A	C	16: 44,917,083 (GRCm39)	D613A	probably benign	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cebpz	A	T	17: 79,239,545 (GRCm39)	D625E	probably benign	Het
Coq6	C	A	12: 84,419,238 (GRCm39)	N388K	probably damaging	Het
Cracd	A	G	5: 77,004,589 (GRCm39)	T317A	unknown	Het
D430041D05Rik	T	C	2: 104,060,800 (GRCm39)	M1365V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dpysl4	T	G	7: 138,676,723 (GRCm39)	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,854,144 (GRCm39)	Q550K	probably benign	Het
Epas1	A	G	17: 87,112,723 (GRCm39)	D107G	probably damaging	Het
Esrp2	A	G	8: 106,858,453 (GRCm39)	V636A	possibly damaging	Het
Etl4	T	A	2: 20,748,795 (GRCm39)	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,423,111 (GRCm39)	V264A	probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fer	T	A	17: 64,445,909 (GRCm39)	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,109,204 (GRCm39)	V575I	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gipc3	T	C	10: 81,177,181 (GRCm39)	I130V	probably benign	Het
Iqsec3	G	A	6: 121,405,326 (GRCm39)		probably benign	Het
Kdm5d	G	T	Y: 940,781 (GRCm39)		probably null	Het
Kl	A	G	5: 150,876,959 (GRCm39)	R260G	possibly damaging	Het
Kras	T	C	6: 145,177,843 (GRCm39)	E143G	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Ksr1	T	C	11: 78,927,347 (GRCm39)	T329A	probably damaging	Het
Marchf6	A	G	15: 31,502,952 (GRCm39)	V83A	probably benign	Het
Mettl2	T	C	11: 105,022,446 (GRCm39)	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mlh1	C	A	9: 111,087,624 (GRCm39)	S24I	probably benign	Het
Mmel1	G	A	4: 154,975,333 (GRCm39)	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Myh3	A	G	11: 66,977,453 (GRCm39)	K368E	probably benign	Het
Myo16	T	A	8: 10,372,656 (GRCm39)	N118K	probably damaging	Het
Myo5c	A	G	9: 75,157,043 (GRCm39)	S160G	probably damaging	Het
Nat1	A	T	8: 67,943,653 (GRCm39)	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nwd1	T	C	8: 73,431,622 (GRCm39)	S1207P	probably benign	Het
Or2y17	T	C	11: 49,231,662 (GRCm39)	L101P	probably 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
Or5w22	T	C	2: 87,363,168 (GRCm39)	S264P	probably damaging	Het
Paqr8	A	T	1: 21,005,704 (GRCm39)	H286L	probably damaging	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pes1	A	G	11: 3,919,482 (GRCm39)	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Robo2	T	C	16: 73,713,033 (GRCm39)	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Skic3	A	T	13: 76,261,166 (GRCm39)	R112S	probably benign	Het
Skic3	A	G	13: 76,278,354 (GRCm39)	Q556R	probably benign	Het
Slc2a4	C	T	11: 69,835,833 (GRCm39)	V339I	probably benign	Het
Slc39a6	G	A	18: 24,734,539 (GRCm39)		probably null	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Snx33	T	C	9: 56,833,121 (GRCm39)	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,849,821 (GRCm39)	D769A	probably damaging	Het
Stmn2	A	T	3: 8,606,964 (GRCm39)	E28V	probably damaging	Het
Syt9	A	G	7: 107,035,736 (GRCm39)	D251G	probably damaging	Het
Tjap1	T	C	17: 46,573,347 (GRCm39)	T37A	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tprg1	A	G	16: 25,231,641 (GRCm39)	T206A	probably benign	Het
Ubqlnl	A	T	7: 103,799,272 (GRCm39)	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r12	C	T	5: 109,239,942 (GRCm39)	G207E	probably damaging	Het
Xrn2	T	G	2: 146,891,281 (GRCm39)	L697*	probably null	Het
Zfp764	A	G	7: 127,004,211 (GRCm39)	F307L	probably benign	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het
Zranb2	A	T	3: 157,248,793 (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
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
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'- CCATCAGAAGCAACATGTTTCC -3'
(R):5'- TGATTTCCAAATCTAACCCAAGCTC -3'

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

Posted On

2014-06-30