Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Art3'

8138

Institutional Source

Beutler Lab

Gene Symbol

Art3

Ensembl Gene

ENSMUSG00000034842

Gene Name

ADP-ribosyltransferase 3

Synonyms

4930569O04Rik

MMRRC Submission

038306-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0011 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

92479686-92562487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92551471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 17 (Y17N)

Ref Sequence

ENSEMBL: ENSMUSP00000114826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113083] [ENSMUST00000117108] [ENSMUST00000118106] [ENSMUST00000119587] [ENSMUST00000120193] [ENSMUST00000120416] [ENSMUST00000121096] [ENSMUST00000152041]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113083
AA Change: Y277N

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: Y277N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	4.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117108
AA Change: Y277N

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: Y277N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	1.9e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118106
AA Change: Y277N

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
AA Change: Y277N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	9e-66	PFAM
low complexity region	298	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119587

SMART Domains

Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	4e-65	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120193
AA Change: Y277N

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
AA Change: Y277N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	8.4e-66	PFAM
low complexity region	298	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120416
AA Change: Y277N

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: Y277N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	3.1e-65	PFAM
low complexity region	298	309	N/A	INTRINSIC
low complexity region	366	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121096
AA Change: Y277N

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: Y277N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	251	1.8e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152041
AA Change: Y17N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000126281
AA Change: Y215N

SMART Domains

Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
AA Change: Y215N

Domain	Start	End	E-Value	Type
Pfam:ART	1	190	3e-53	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000138003
AA Change: Y57N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129222

Meta Mutation Damage Score

0.3359

Coding Region Coverage

1x: 78.3%
3x: 67.8%
10x: 41.6%
20x: 22.3%

Validation Efficiency

92% (85/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Brip1	C	A	11: 86,077,824 (GRCm39)	K201N	possibly damaging	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Chia1	A	G	3: 106,038,290 (GRCm39)		probably benign	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Ift70a2	T	A	2: 75,806,561 (GRCm39)	R650S	probably damaging	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Krt35	T	A	11: 99,984,502 (GRCm39)	Q331L	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Msh2	T	C	17: 87,987,521 (GRCm39)		probably benign	Het
Ncoa1	A	C	12: 4,372,896 (GRCm39)	F57L	possibly damaging	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Pcdhgb8	T	C	18: 37,897,335 (GRCm39)	S802P	probably benign	Het
Ralgapa1	A	G	12: 55,833,048 (GRCm39)	S152P	probably damaging	Het
Rasgef1b	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Rdh19	T	A	10: 127,692,780 (GRCm39)	L149Q	probably damaging	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	probably benign	Het

Other mutations in Art3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01526:Art3	APN	5	92,562,199 (GRCm39)	missense	probably damaging	0.99
IGL01674:Art3	APN	5	92,551,473 (GRCm39)	nonsense	probably null
R0011:Art3	UTSW	5	92,551,471 (GRCm39)	missense	probably damaging	0.99
R1861:Art3	UTSW	5	92,560,094 (GRCm39)	intron	probably benign
R4131:Art3	UTSW	5	92,540,421 (GRCm39)	missense	probably benign	0.01
R4726:Art3	UTSW	5	92,559,002 (GRCm39)	missense	probably benign	0.10
R4810:Art3	UTSW	5	92,562,108 (GRCm39)	missense	possibly damaging	0.84
R4959:Art3	UTSW	5	92,551,478 (GRCm39)	missense	probably damaging	1.00
R4973:Art3	UTSW	5	92,551,478 (GRCm39)	missense	probably damaging	1.00
R5592:Art3	UTSW	5	92,540,679 (GRCm39)	missense	probably damaging	1.00
R5678:Art3	UTSW	5	92,540,409 (GRCm39)	missense	probably damaging	0.99
R5813:Art3	UTSW	5	92,560,100 (GRCm39)	utr 3 prime	probably benign
R5924:Art3	UTSW	5	92,560,091 (GRCm39)	intron	probably benign
R6480:Art3	UTSW	5	92,540,676 (GRCm39)	missense	probably damaging	1.00
R7452:Art3	UTSW	5	92,540,539 (GRCm39)	missense	probably damaging	1.00
R7549:Art3	UTSW	5	92,551,514 (GRCm39)	missense	probably benign	0.01
R7772:Art3	UTSW	5	92,551,472 (GRCm39)	missense	probably damaging	0.99
R7947:Art3	UTSW	5	92,540,359 (GRCm39)	missense	possibly damaging	0.88
R9022:Art3	UTSW	5	92,540,393 (GRCm39)	missense	probably benign	0.17
R9412:Art3	UTSW	5	92,541,013 (GRCm39)	missense	probably damaging	1.00
R9700:Art3	UTSW	5	92,562,120 (GRCm39)	missense	unknown
R9766:Art3	UTSW	5	92,562,138 (GRCm39)	missense	unknown
Z1177:Art3	UTSW	5	92,560,065 (GRCm39)	missense	unknown

Posted On

2012-11-20