Mutagenetix > Incidental Mutation

Incidental Mutation 'R4131:Art3'

314669

Institutional Source

Beutler Lab

Gene Symbol

Art3

Ensembl Gene

ENSMUSG00000034842

Gene Name

ADP-ribosyltransferase 3

Synonyms

4930569O04Rik

MMRRC Submission

040994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4131 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92479686-92562487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92540421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 55 (M55L)

Ref Sequence

ENSEMBL: ENSMUSP00000113493 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113083
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
AA Change: M55L

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: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
AA Change: M55L

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: M55L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
AA Change: M55L

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
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842
AA Change: M55L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120193
AA Change: M55L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
AA Change: M55L

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: M55L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: M55L

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: ENSMUST00000120781
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113008
Gene: ENSMUSG00000034842
AA Change: M55L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121096
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
AA Change: M55L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124509
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119113
Gene: ENSMUSG00000034842
AA Change: M55L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125462
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117995
Gene: ENSMUSG00000034842
AA Change: M55L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128246
AA Change: M55L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121620
Gene: ENSMUSG00000034842
AA Change: M55L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138687
AA Change: M55L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118746
Gene: ENSMUSG00000034842
AA Change: M55L

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
AA Change: M55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116218
Gene: ENSMUSG00000034842
AA Change: M55L

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: ENSMUST00000154245
AA Change: M55L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119283
Gene: ENSMUSG00000034842
AA Change: M55L

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: ENSMUST00000138003

Predicted Effect

probably benign
Transcript: ENSMUST00000126281

SMART Domains

Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,671 (GRCm39)	D277G	possibly damaging	Het
Abca12	A	G	1: 71,359,030 (GRCm39)		probably null	Het
Adam12	C	T	7: 133,514,653 (GRCm39)	V345I	probably damaging	Het
Arpp21	T	A	9: 111,984,376 (GRCm39)		probably benign	Het
C1d	C	T	11: 17,214,054 (GRCm39)		probably benign	Het
Ces1c	A	G	8: 93,827,312 (GRCm39)	M484T	probably damaging	Het
Cisd3	T	C	11: 97,579,257 (GRCm39)	V133A	possibly damaging	Het
Clpx	A	G	9: 65,223,937 (GRCm39)	I230V	possibly damaging	Het
Cmklr1	C	A	5: 113,752,545 (GRCm39)	R152L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Heca	A	G	10: 17,777,987 (GRCm39)	S537P	probably damaging	Het
Igha	C	A	12: 113,222,449 (GRCm39)		probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Klk1b3	T	A	7: 43,851,111 (GRCm39)	N181K	probably damaging	Het
Klra2	T	A	6: 131,205,180 (GRCm39)	R220S	probably benign	Het
Lama2	C	T	10: 26,917,170 (GRCm39)	V2252I	probably benign	Het
Megf10	G	A	18: 57,313,607 (GRCm39)	C17Y	probably damaging	Het
Nup35	G	A	2: 80,486,443 (GRCm39)		probably benign	Het
Or52n4b	C	G	7: 108,143,744 (GRCm39)	S2*	probably null	Het
Or8b37	T	A	9: 37,959,170 (GRCm39)	Y217*	probably null	Het
Pdzd9	A	T	7: 120,262,092 (GRCm39)	D123E	possibly damaging	Het
Phactr1	A	T	13: 43,190,953 (GRCm39)	Q141L	probably damaging	Het
Prelid2	T	G	18: 42,084,224 (GRCm39)	D6A	possibly damaging	Het
Psmd1	T	C	1: 86,006,422 (GRCm39)	S263P	probably damaging	Het
Rassf6	C	T	5: 90,757,646 (GRCm39)	D105N	probably damaging	Het
Ryr3	C	T	2: 112,757,328 (GRCm39)		probably null	Het
Sema4g	T	A	19: 44,987,358 (GRCm39)	F501L	probably benign	Het
Ssrp1	A	G	2: 84,874,791 (GRCm39)	E537G	probably null	Het
Try4	T	A	6: 41,282,335 (GRCm39)	Y218*	probably null	Het
Zbtb40	G	T	4: 136,722,707 (GRCm39)	S790R	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
R0011:Art3	UTSW	5	92,551,471 (GRCm39)	missense	probably damaging	0.99
R1861:Art3	UTSW	5	92,560,094 (GRCm39)	intron	probably benign
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

Predicted Primers

PCR Primer
(F):5'- GAATTTGACCCGCACCTCTC -3'
(R):5'- AAGGAAGTCTGCTCTTGAGC -3'

Sequencing Primer
(F):5'- TGTGATCCATAATTAAAAGGGCACG -3'
(R):5'- TGAGCCTCATTCACGTAGGC -3'

Posted On

2015-05-14