Mutagenetix > Incidental Mutation

Incidental Mutation 'R9043:Art5'

687841

Institutional Source

Beutler Lab

Gene Symbol

Art5

Ensembl Gene

ENSMUSG00000070424

Gene Name

ADP-ribosyltransferase 5

Synonyms

Yac-2

MMRRC Submission

068870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101746086-101752052 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to C at 101748699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000102550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033300] [ENSMUST00000084843] [ENSMUST00000094128] [ENSMUST00000106934] [ENSMUST00000106935] [ENSMUST00000106937] [ENSMUST00000123372] [ENSMUST00000124189] [ENSMUST00000139104] [ENSMUST00000209809] [ENSMUST00000210211]

AlphaFold

P70352

Predicted Effect

probably benign
Transcript: ENSMUST00000033300

SMART Domains

Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ART	39	269	2e-99	PFAM
low complexity region	288	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084843

SMART Domains

Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	150	1.4e-54	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
low complexity region	403	415	N/A	INTRINSIC
low complexity region	416	428	N/A	INTRINSIC
ANK	439	469	1.58e3	SMART
low complexity region	484	496	N/A	INTRINSIC
ANK	522	551	1.74e0	SMART
Pfam:TRP_2	557	619	1e-24	PFAM
Pfam:Ion_trans	716	1024	1.7e-24	PFAM
Pfam:PKD_channel	774	1019	2.4e-12	PFAM
low complexity region	1070	1081	N/A	INTRINSIC
low complexity region	1093	1104	N/A	INTRINSIC
coiled coil region	1122	1162	N/A	INTRINSIC
low complexity region	1220	1236	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000094128
AA Change: M1R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: M1R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	255	3.6e-96	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106934
AA Change: M1R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: M1R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	117	3.7e-29	PFAM
Pfam:ART	114	157	6.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106935
AA Change: M1R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424
AA Change: M1R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	146	2.1e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106937
AA Change: M1R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: M1R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ART	29	255	1.9e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123372

SMART Domains

Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	152	5.2e-29	PFAM
low complexity region	254	267	N/A	INTRINSIC
low complexity region	275	280	N/A	INTRINSIC
low complexity region	297	311	N/A	INTRINSIC
internal_repeat_1	324	345	2.69e-6	PROSPERO
low complexity region	346	379	N/A	INTRINSIC
internal_repeat_1	380	401	2.69e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000124189

SMART Domains

Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
low complexity region	42	54	N/A	INTRINSIC
ANK	65	95	1.58e3	SMART
low complexity region	110	122	N/A	INTRINSIC
ANK	148	177	1.74e0	SMART
Pfam:TRP_2	183	245	9.1e-29	PFAM
transmembrane domain	345	367	N/A	INTRINSIC
Pfam:PKD_channel	398	645	1.4e-12	PFAM
Pfam:Ion_trans	422	638	1e-31	PFAM
low complexity region	696	707	N/A	INTRINSIC
low complexity region	719	730	N/A	INTRINSIC
coiled coil region	748	788	N/A	INTRINSIC
low complexity region	846	862	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139104

SMART Domains

Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	3.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155078

SMART Domains

Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425

Domain	Start	End	E-Value	Type
Pfam:XRCC1_N	1	62	4.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209809

Predicted Effect

probably benign
Transcript: ENSMUST00000210211

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	A	8: 88,309,238 (GRCm39)	S134T	possibly damaging	Het
Aadacl4	T	A	4: 144,349,790 (GRCm39)	L349Q	probably damaging	Het
Ankrd29	T	C	18: 12,428,970 (GRCm39)	N33S	probably damaging	Het
Arid3b	T	C	9: 57,699,900 (GRCm39)	S536G	possibly damaging	Het
Arvcf	T	A	16: 18,218,452 (GRCm39)	C545S	probably damaging	Het
Atpsckmt	A	G	15: 31,617,101 (GRCm39)	T189A	probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
Cdh23	T	G	10: 60,151,478 (GRCm39)	D2469A	probably benign	Het
Cep350	T	A	1: 155,773,228 (GRCm39)	T1781S	probably damaging	Het
Cfap65	T	A	1: 74,943,847 (GRCm39)	T1555S	possibly damaging	Het
Chga	G	A	12: 102,529,054 (GRCm39)	E344K	possibly damaging	Het
Ckap2l	A	T	2: 129,126,892 (GRCm39)	L429M	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
Cyp3a11	T	C	5: 145,805,995 (GRCm39)	D124G	probably benign	Het
Dgkq	A	T	5: 108,801,061 (GRCm39)	V527D	probably damaging	Het
Dnah3	T	C	7: 119,551,272 (GRCm39)	I37V	probably benign	Het
Dnah9	T	A	11: 65,845,680 (GRCm39)	E3068V		Het
Dusp23	T	C	1: 172,460,184 (GRCm39)	E89G	probably null	Het
Fam187a	A	G	11: 102,776,685 (GRCm39)	Y163C	possibly damaging	Het
Gabrg2	T	A	11: 41,865,662 (GRCm39)	I106F	probably damaging	Het
Gpc2	A	G	5: 138,277,193 (GRCm39)	I78T	probably benign	Het
Gpr149	A	C	3: 62,511,360 (GRCm39)	L213R	probably damaging	Het
Grm1	A	T	10: 10,565,056 (GRCm39)	L1084*	probably null	Het
Gypa	A	G	8: 81,222,946 (GRCm39)	T17A	unknown	Het
Gys2	A	T	6: 142,376,059 (GRCm39)	F534L	probably damaging	Het
Iqce	A	T	5: 140,651,810 (GRCm39)	M721K	probably benign	Het
Klrc2	T	A	6: 129,635,741 (GRCm39)	Y129F	probably damaging	Het
Krt14	T	C	11: 100,095,464 (GRCm39)	S314G	possibly damaging	Het
L3mbtl3	T	C	10: 26,156,152 (GRCm39)	Q685R	unknown	Het
Lamb3	A	T	1: 193,007,919 (GRCm39)	K206*	probably null	Het
Lgr5	A	G	10: 115,314,343 (GRCm39)	I198T	probably damaging	Het
Mapk10	A	T	5: 103,074,025 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,271,231 (GRCm39)	D463N	probably damaging	Het
Med15	A	T	16: 17,470,582 (GRCm39)	W742R	probably benign	Het
Meis1	T	A	11: 18,831,916 (GRCm39)	Q374L	possibly damaging	Het
Nrxn3	T	C	12: 89,227,252 (GRCm39)	C296R	probably damaging	Het
Ntaq1	A	G	15: 58,014,004 (GRCm39)	Y67C	possibly damaging	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Oca2	T	A	7: 55,927,189 (GRCm39)		probably null	Het
Or5b110-ps1	A	T	19: 13,260,074 (GRCm39)	M116K	probably damaging	Het
Or5b12	T	A	19: 12,897,667 (GRCm39)	E2V	probably benign	Het
Or5d36	T	A	2: 87,900,983 (GRCm39)	T248S	possibly damaging	Het
Or9k2b	A	T	10: 130,016,154 (GRCm39)	H198Q	probably benign	Het
Pacs1	A	G	19: 5,188,964 (GRCm39)	I806T	probably benign	Het
Pax2	T	A	19: 44,804,499 (GRCm39)	S257T	probably benign	Het
Pbxip1	A	T	3: 89,350,794 (GRCm39)	T72S	probably benign	Het
Pcdhb14	T	C	18: 37,581,851 (GRCm39)	I319T	probably damaging	Het
Pcdhga2	C	A	18: 37,802,963 (GRCm39)	A269E	possibly damaging	Het
Pdzph1	A	C	17: 59,280,535 (GRCm39)	N582K	probably benign	Het
Plk2	A	T	13: 110,533,194 (GRCm39)	I186F	probably damaging	Het
Pzp	A	T	6: 128,471,742 (GRCm39)	C895S	probably damaging	Het
Rasa2	A	T	9: 96,484,770 (GRCm39)	V148D	probably damaging	Het
Rgsl1	A	T	1: 153,717,567 (GRCm39)	I14N	possibly damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,349,739 (GRCm39)	R3867G		Het
Rpap3	A	G	15: 97,584,443 (GRCm39)	Y334H	possibly damaging	Het
Scara3	A	C	14: 66,169,070 (GRCm39)	N182K	probably damaging	Het
Sh3bp1	A	G	15: 78,791,449 (GRCm39)	E412G	possibly damaging	Het
Sh3tc2	T	A	18: 62,122,961 (GRCm39)	I574N	possibly damaging	Het
Slc16a11	T	C	11: 70,106,520 (GRCm39)	Y253H	probably damaging	Het
Slc38a4	A	T	15: 96,906,805 (GRCm39)	V311E	possibly damaging	Het
Slc4a7	T	C	14: 14,775,048 (GRCm38)	L826P	probably damaging	Het
Spag9	T	G	11: 93,951,085 (GRCm39)	V83G		Het
Sspo	T	G	6: 48,470,214 (GRCm39)	V4560G	probably benign	Het
Stxbp2	T	A	8: 3,684,478 (GRCm39)	F144I		Het
Tafa2	T	C	10: 123,540,294 (GRCm39)	V50A	probably damaging	Het
Tdh	T	C	14: 63,730,278 (GRCm39)	I334V	probably benign	Het
Tesk2	C	A	4: 116,660,148 (GRCm39)	S451Y	probably benign	Het
Tjp1	A	T	7: 64,962,679 (GRCm39)	V1166E	probably benign	Het
Tmeff2	G	A	1: 51,018,779 (GRCm39)	V254M	unknown	Het
Tmem126a	A	G	7: 90,100,749 (GRCm39)		probably null	Het
Togaram2	C	G	17: 71,993,699 (GRCm39)	P2A	probably benign	Het
Trappc14	G	A	5: 138,259,889 (GRCm39)	T389I	possibly damaging	Het
Tssk4	C	T	14: 55,889,211 (GRCm39)	R246W	probably damaging	Het
Tubal3	C	T	13: 3,982,708 (GRCm39)	R163*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vezt	T	C	10: 93,820,027 (GRCm39)	N446S	probably damaging	Het
Vim	A	T	2: 13,579,249 (GRCm39)	T3S	unknown	Het
Vmn2r45	A	G	7: 8,474,904 (GRCm39)	L708P	possibly damaging	Het
Yes1	A	G	5: 32,810,312 (GRCm39)	Y157C	probably damaging	Het
Zfp358	A	G	8: 3,545,810 (GRCm39)	T131A	probably benign	Het
Zfp426	C	T	9: 20,386,308 (GRCm39)	V58M	probably damaging	Het
Zfp692	T	C	11: 58,198,550 (GRCm39)	S47P	probably damaging	Het
Zfp719	A	T	7: 43,239,605 (GRCm39)	T398S	possibly damaging	Het

Other mutations in Art5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Art5	APN	7	101,747,123 (GRCm39)	missense	probably null
IGL02507:Art5	APN	7	101,748,699 (GRCm39)	start codon destroyed	probably null	0.83
IGL03143:Art5	APN	7	101,747,104 (GRCm39)	missense	probably damaging	1.00
Buonarotti	UTSW	7	101,747,377 (GRCm39)	missense	probably damaging	1.00
R0632:Art5	UTSW	7	101,747,164 (GRCm39)	missense	probably damaging	1.00
R1215:Art5	UTSW	7	101,747,116 (GRCm39)	missense	probably damaging	0.99
R2151:Art5	UTSW	7	101,747,407 (GRCm39)	missense	possibly damaging	0.71
R2152:Art5	UTSW	7	101,747,407 (GRCm39)	missense	possibly damaging	0.71
R2153:Art5	UTSW	7	101,747,407 (GRCm39)	missense	possibly damaging	0.71
R4533:Art5	UTSW	7	101,747,545 (GRCm39)	missense	probably benign
R4719:Art5	UTSW	7	101,747,701 (GRCm39)	splice site	probably null
R5042:Art5	UTSW	7	101,748,672 (GRCm39)	missense	probably damaging	0.99
R5098:Art5	UTSW	7	101,747,177 (GRCm39)	missense	probably damaging	0.98
R5341:Art5	UTSW	7	101,747,306 (GRCm39)	missense	probably benign	0.01
R6037:Art5	UTSW	7	101,747,591 (GRCm39)	missense	probably benign	0.01
R6037:Art5	UTSW	7	101,747,591 (GRCm39)	missense	probably benign	0.01
R6262:Art5	UTSW	7	101,747,338 (GRCm39)	missense	probably benign	0.00
R6850:Art5	UTSW	7	101,747,302 (GRCm39)	missense	possibly damaging	0.60
R7186:Art5	UTSW	7	101,746,536 (GRCm39)	missense	probably benign
R7270:Art5	UTSW	7	101,747,080 (GRCm39)	missense	probably damaging	1.00
R7381:Art5	UTSW	7	101,747,377 (GRCm39)	missense	probably damaging	1.00
R7729:Art5	UTSW	7	101,747,711 (GRCm39)	missense	possibly damaging	0.51
R8061:Art5	UTSW	7	101,747,456 (GRCm39)	missense	possibly damaging	0.92
R8112:Art5	UTSW	7	101,747,218 (GRCm39)	missense	probably benign
R8700:Art5	UTSW	7	101,748,862 (GRCm39)	unclassified	probably benign
R9093:Art5	UTSW	7	101,747,396 (GRCm39)	missense	probably benign	0.00
R9605:Art5	UTSW	7	101,746,412 (GRCm39)	missense	probably benign
X0061:Art5	UTSW	7	101,747,587 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TTCCTGAGAAGAGGACTGGG -3'
(R):5'- GTCATAGACTAGGGCTGACATGG -3'

Sequencing Primer
(F):5'- GAGGAGGGAAGAGCCTCTTG -3'
(R):5'- GGGACAATAAAGTCTGAAGCCACATC -3'

Posted On

2021-11-19