Mutagenetix > Incidental Mutation

Incidental Mutation 'R5592:Art3'

437565

Institutional Source

Beutler Lab

Gene Symbol

Art3

Ensembl Gene

ENSMUSG00000034842

Gene Name

ADP-ribosyltransferase 3

Synonyms

4930569O04Rik

MMRRC Submission

043144-MU

Accession Numbers

Essential gene?

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

Stock #

R5592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92479686-92562487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92540679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 141 (Y141N)

Ref Sequence

ENSEMBL: ENSMUSP00000119283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113083] [ENSMUST00000117108] [ENSMUST00000118106] [ENSMUST00000119587] [ENSMUST00000120193] [ENSMUST00000120416] [ENSMUST00000120781] [ENSMUST00000121096] [ENSMUST00000124509] [ENSMUST00000125462] [ENSMUST00000128246] [ENSMUST00000154245] [ENSMUST00000138687] [ENSMUST00000145072]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113083
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: Y141N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000117108
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: Y141N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118106
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
AA Change: Y141N

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 damaging
Transcript: ENSMUST00000119587
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842
AA Change: Y141N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120193
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
AA Change: Y141N

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 damaging
Transcript: ENSMUST00000120416
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: Y141N

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 damaging
Transcript: ENSMUST00000120781
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000113008
Gene: ENSMUSG00000034842
AA Change: Y141N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	215	1.2e-55	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000126281
AA Change: Y79N

SMART Domains

Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
AA Change: Y79N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121096
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: Y141N

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: ENSMUST00000124509
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000119113
Gene: ENSMUSG00000034842
AA Change: Y141N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	192	8.9e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125462
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000117995
Gene: ENSMUSG00000034842
AA Change: Y141N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	244	1.4e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128246
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000121620
Gene: ENSMUSG00000034842
AA Change: Y141N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	206	2e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154245
AA Change: Y141N

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

SMART Domains

Protein: ENSMUSP00000119283
Gene: ENSMUSG00000034842
AA Change: Y141N

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	178	4.9e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129222

Predicted Effect

probably benign
Transcript: ENSMUST00000138687

SMART Domains

Protein: ENSMUSP00000118746
Gene: ENSMUSG00000034842

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	65	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145072

SMART Domains

Protein: ENSMUSP00000116218
Gene: ENSMUSG00000034842

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ART	29	108	9.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138003

Meta Mutation Damage Score

0.9179

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	A	T	1: 85,654,332 (GRCm39)	F2I	probably damaging	Het
Adam17	C	T	12: 21,384,138 (GRCm39)	S454N	probably damaging	Het
Adcy1	A	T	11: 7,089,088 (GRCm39)	K501*	probably null	Het
Arhgap28	A	T	17: 68,165,267 (GRCm39)	M543K	probably damaging	Het
Ccdc38	C	T	10: 93,386,064 (GRCm39)	T60I	possibly damaging	Het
Crmp1	A	C	5: 37,422,609 (GRCm39)	I139L	probably benign	Het
Cul9	G	A	17: 46,831,517 (GRCm39)	L1566F	probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Drd1	A	T	13: 54,208,190 (GRCm39)	M1K	probably null	Het
Flii	T	G	11: 60,611,225 (GRCm39)	M449L	probably benign	Het
Galnt16	T	C	12: 80,635,293 (GRCm39)	V343A	probably damaging	Het
Gimap4	A	T	6: 48,668,092 (GRCm39)	E154D	probably damaging	Het
Glmp	T	G	3: 88,233,333 (GRCm39)		probably benign	Het
Glt1d1	A	T	5: 127,734,183 (GRCm39)	D119V	probably benign	Het
Gm5930	C	T	14: 44,568,886 (GRCm39)	M245I	probably benign	Het
Golgb1	T	A	16: 36,746,125 (GRCm39)	H2901Q	probably benign	Het
Krt12	C	T	11: 99,311,650 (GRCm39)	V184I	probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mier3	T	A	13: 111,843,195 (GRCm39)	Y182*	probably null	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mmp25	A	G	17: 23,859,176 (GRCm39)	V157A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ms4a6c	A	G	19: 11,458,496 (GRCm39)		probably benign	Het
Ms4a6c	A	G	19: 11,457,641 (GRCm39)		probably benign	Het
Muc19	T	C	15: 91,828,199 (GRCm39)		noncoding transcript	Het
Mucl3	T	C	17: 35,954,535 (GRCm39)	Y9C	probably damaging	Het
Mycbp2	C	A	14: 103,432,113 (GRCm39)	M2308I	probably benign	Het
Myo1a	G	T	10: 127,549,908 (GRCm39)	V463F	probably damaging	Het
Ogdh	A	T	11: 6,266,763 (GRCm39)		probably null	Het
Or52h9	A	T	7: 104,202,938 (GRCm39)	N271Y	probably benign	Het
Or5l14	A	G	2: 87,792,684 (GRCm39)	L184P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paip1	C	A	13: 119,587,334 (GRCm39)	D124E	probably damaging	Het
Pdcd11	T	A	19: 47,091,164 (GRCm39)	N379K	probably benign	Het
Pitpnm2	T	C	5: 124,280,212 (GRCm39)	E112G	probably damaging	Het
Prrg4	T	C	2: 104,663,123 (GRCm39)	Y161C	probably benign	Het
Rb1	A	G	14: 73,449,187 (GRCm39)	Y648H	probably damaging	Het
Rpa3	A	T	6: 8,257,694 (GRCm39)	M56K	probably benign	Het
Scarf1	A	T	11: 75,416,513 (GRCm39)	T652S	probably benign	Het
Slc16a5	A	G	11: 115,363,608 (GRCm39)	K423R	probably benign	Het
Sptan1	C	T	2: 29,876,731 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,875,863 (GRCm39)	I574T	probably benign	Het
Synm	A	G	7: 67,409,264 (GRCm39)	L38P	probably damaging	Het
Ubqln4	T	G	3: 88,464,171 (GRCm39)	M224R	probably damaging	Het
Uroc1	A	G	6: 90,332,326 (GRCm39)	N561S	probably damaging	Het
Vav1	A	G	17: 57,611,835 (GRCm39)	Y483C	probably benign	Het
Vps13a	G	A	19: 16,702,935 (GRCm39)	L673F	probably damaging	Het
Zfp418	G	T	7: 7,184,314 (GRCm39)	K92N	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACAATGCGGAGATCCAGTG -3'
(R):5'- CAGGTCTGGATGGTTAGCAC -3'

Sequencing Primer
(F):5'- GGAAGGCTCAGCTCTTCCTC -3'
(R):5'- AGCACCCGTTGGTTGTC -3'

Posted On

2016-10-26