Mutagenetix > Incidental Mutation

Incidental Mutation 'R9766:Art3'

733263

Institutional Source

Beutler Lab

Gene Symbol

Art3

Ensembl Gene

ENSMUSG00000034842

Gene Name

ADP-ribosyltransferase 3

Synonyms

4930569O04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92479686-92562487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92562138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 379 (C379R)

Ref Sequence

ENSEMBL: ENSMUSP00000113493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038514] [ENSMUST00000113083] [ENSMUST00000117108] [ENSMUST00000118106] [ENSMUST00000119587] [ENSMUST00000120193] [ENSMUST00000120416] [ENSMUST00000121096] [ENSMUST00000152041]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038514

SMART Domains

Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826

Domain	Start	End	E-Value	Type
low complexity region	5	109	N/A	INTRINSIC
Pfam:Nup54	303	441	4.8e-49	PFAM
PDB:3T98\|C	445	494	2e-26	PDB

Predicted Effect

silent
Transcript: ENSMUST00000113083

SMART Domains

Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842

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

Predicted Effect

silent
Transcript: ENSMUST00000117108

SMART Domains

Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842

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: L353P

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

SMART Domains

Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
AA Change: L353P

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

silent
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

unknown
Transcript: ENSMUST00000120193
AA Change: L343P

SMART Domains

Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
AA Change: L343P

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

unknown
Transcript: ENSMUST00000120416
AA Change: C379R

SMART Domains

Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
AA Change: C379R

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

silent
Transcript: ENSMUST00000121096

SMART Domains

Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842

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

Predicted Effect

silent
Transcript: ENSMUST00000126281

SMART Domains

Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842

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

Predicted Effect

silent
Transcript: ENSMUST00000138003

Predicted Effect

probably benign
Transcript: ENSMUST00000152041

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,788 (GRCm39)	V59A	probably benign	Het
Aatk	A	T	11: 119,902,565 (GRCm39)	H610Q	probably benign	Het
Acox1	G	A	11: 116,071,867 (GRCm39)	A187V	probably damaging	Het
Acsbg3	A	G	17: 57,189,177 (GRCm39)	Y195C	probably benign	Het
AI661453	C	T	17: 47,757,570 (GRCm39)	R76W	probably damaging	Het
Anapc1	C	T	2: 128,500,221 (GRCm39)	R808Q	probably damaging	Het
Ankrd26	T	C	6: 118,500,067 (GRCm39)	T1135A	possibly damaging	Het
Arhgap17	A	G	7: 122,921,148 (GRCm39)	V113A	probably benign	Het
Bltp3a	T	C	17: 28,105,799 (GRCm39)	L775P	probably damaging	Het
Bmp5	A	G	9: 75,800,982 (GRCm39)	I371V	probably damaging	Het
Ccdc88b	T	A	19: 6,833,096 (GRCm39)	E281V	probably damaging	Het
Ces1e	A	T	8: 93,946,031 (GRCm39)	Y171N	probably damaging	Het
Cib3	A	T	8: 72,961,034 (GRCm39)	F68I	possibly damaging	Het
Crtac1	A	T	19: 42,402,557 (GRCm39)	L17Q	possibly damaging	Het
Crybg3	A	T	16: 59,376,207 (GRCm39)	S1682R	probably benign	Het
Ddx60	G	A	8: 62,465,312 (GRCm39)	G1323D	probably damaging	Het
Dock3	A	C	9: 106,788,483 (GRCm39)	D161E	probably benign	Het
Dpep3	A	C	8: 106,705,369 (GRCm39)	L127R	probably damaging	Het
Dus2	A	G	8: 106,772,568 (GRCm39)	D226G	probably damaging	Het
Ebna1bp2	T	C	4: 118,480,821 (GRCm39)	V184A	possibly damaging	Het
Edem1	T	A	6: 108,823,648 (GRCm39)	I348N	probably damaging	Het
Efcab8	A	T	2: 153,656,362 (GRCm39)	M599L	unknown	Het
Eif2ak4	A	T	2: 118,261,313 (GRCm39)	K618*	probably null	Het
Fbxw27	T	C	9: 109,602,215 (GRCm39)	K253E	possibly damaging	Het
Fgf5	A	G	5: 98,423,113 (GRCm39)	E166G	possibly damaging	Het
Flot1	G	T	17: 36,141,555 (GRCm39)	E321*	probably null	Het
Gm14443	T	C	2: 175,012,248 (GRCm39)	E66G	probably benign	Het
Gprc6a	G	A	10: 51,491,884 (GRCm39)	P622S	probably damaging	Het
Gsta2	A	T	9: 78,244,876 (GRCm39)	Y79*	probably null	Het
Hecw2	A	G	1: 53,904,287 (GRCm39)	S1154P	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Kcnd2	T	C	6: 21,216,367 (GRCm39)	S24P	probably benign	Het
Knl1	A	G	2: 118,900,381 (GRCm39)	D694G	probably damaging	Het
L1td1	T	C	4: 98,624,753 (GRCm39)	I316T	probably benign	Het
Lrsam1	G	T	2: 32,818,077 (GRCm39)	Q660K	probably benign	Het
Muc16	T	A	9: 18,548,153 (GRCm39)	T6047S	probably benign	Het
Muc16	T	A	9: 18,552,383 (GRCm39)	T4637S	probably benign	Het
Myo5a	T	C	9: 75,078,914 (GRCm39)	Y891H	probably damaging	Het
Nkd2	G	T	13: 73,995,131 (GRCm39)	D22E	possibly damaging	Het
Patl2	A	T	2: 121,954,212 (GRCm39)	V453E	probably damaging	Het
Pcnx2	A	G	8: 126,488,313 (GRCm39)	Y1744H	probably damaging	Het
Phf8-ps	T	G	17: 33,285,647 (GRCm39)	N385T	probably damaging	Het
Pira2	T	A	7: 3,845,517 (GRCm39)	H289L	possibly damaging	Het
Pitpnm1	T	C	19: 4,158,117 (GRCm39)	I569T	probably benign	Het
Ppp4r4	T	C	12: 103,562,735 (GRCm39)	V568A	probably benign	Het
Ptf1a	G	A	2: 19,451,062 (GRCm39)	G131S	probably benign	Het
Rasgrf2	G	T	13: 92,160,188 (GRCm39)	H396N	probably damaging	Het
Rfx1	C	T	8: 84,814,376 (GRCm39)	T315M	probably damaging	Het
Rnf207	C	A	4: 152,400,402 (GRCm39)	R148L	probably damaging	Het
Scn11a	T	G	9: 119,584,181 (GRCm39)	N1478T	probably damaging	Het
Sdr39u1	C	T	14: 56,135,194 (GRCm39)	V250I	probably benign	Het
Serinc3	T	C	2: 163,471,095 (GRCm39)	T276A	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stambp	C	A	6: 83,534,469 (GRCm39)	A273S	probably benign	Het
Taf2	T	C	15: 54,910,881 (GRCm39)		probably null	Het
Tex26	A	T	5: 149,386,642 (GRCm39)	Y232F	probably damaging	Het
Tmem258	T	C	19: 10,184,578 (GRCm39)	L55P	probably damaging	Het
Trappc8	A	G	18: 20,979,630 (GRCm39)	I755T	possibly damaging	Het
Ubr4	T	C	4: 139,194,595 (GRCm39)	Y1163H	unknown	Het
Usp14	G	A	18: 10,005,630 (GRCm39)	T254I	probably benign	Het
Vcan	A	G	13: 89,839,247 (GRCm39)	L2099P	probably benign	Het
Wdfy3	C	T	5: 102,042,866 (GRCm39)	V1962I	possibly damaging	Het
Zfp407	T	C	18: 84,577,574 (GRCm39)	T1180A	probably benign	Het
Zfp644	C	A	5: 106,784,691 (GRCm39)	G619C	probably 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
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
Z1177:Art3	UTSW	5	92,560,065 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAAGCATGAAGCCGCATGTG -3'
(R):5'- CTTTTATACAGTCAAGTCTGTCCAAGG -3'

Sequencing Primer
(F):5'- AAGCCGCATGTGTGTGTGC -3'
(R):5'- GTCAAGTCTGTCCAAGGAAAAC -3'

Posted On

2022-11-14