Mutagenetix > Incidental Mutation

Incidental Mutation 'R9605:Art5'

726429

Institutional Source

Beutler Lab

Gene Symbol

Art5

Ensembl Gene

ENSMUSG00000070424

Gene Name

ADP-ribosyltransferase 5

Synonyms

Yac-2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101746086-101752052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101746412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 280 (E280G)

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 benign
Transcript: ENSMUST00000094128
AA Change: E280G

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

SMART Domains

Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: E280G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106934
AA Change: E182G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: E182G

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 benign
Transcript: ENSMUST00000106935
AA Change: E135G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424
AA Change: E135G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106937
AA Change: E280G

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

SMART Domains

Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: E280G

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: 99.6%
20x: 98.8%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aatk	T	C	11: 119,902,209 (GRCm39)	E729G	possibly damaging	Het
Acaa2	A	G	18: 74,932,230 (GRCm39)	T290A	probably benign	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adgre1	A	G	17: 57,718,083 (GRCm39)	N365S	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Aebp2	A	G	6: 140,593,736 (GRCm39)	Q462R	probably damaging	Het
Afg2a	C	T	3: 37,505,930 (GRCm39)	P670S	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Bloc1s3	A	G	7: 19,241,457 (GRCm39)	S24P	possibly damaging	Het
C2	T	A	17: 35,081,958 (GRCm39)	N720I	possibly damaging	Het
Caprin2	T	C	6: 148,744,332 (GRCm39)	D1031G	probably damaging	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Cd19	T	A	7: 126,010,057 (GRCm39)	E398D	possibly damaging	Het
Cdca8	T	C	4: 124,830,384 (GRCm39)	E31G	probably damaging	Het
Ceacam5	G	A	7: 17,493,520 (GRCm39)	V848M	probably damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cspg4b	T	C	13: 113,456,503 (GRCm39)	S850P		Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dock1	T	A	7: 134,384,141 (GRCm39)	F671I	possibly damaging	Het
Dtna	T	A	18: 23,764,454 (GRCm39)	V541D	probably damaging	Het
Eef2k	T	C	7: 120,491,170 (GRCm39)	F552S	probably damaging	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fbp1	A	C	13: 63,019,023 (GRCm39)	V175G	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Fnip1	G	T	11: 54,381,713 (GRCm39)	R288L	probably benign	Het
Ghr	G	A	15: 3,362,993 (GRCm39)	P160S	probably damaging	Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Kif19b	A	T	5: 140,455,461 (GRCm39)	T356S	probably benign	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
N4bp2	T	C	5: 65,963,879 (GRCm39)	S643P	probably benign	Het
Nbl1	T	A	4: 138,812,608 (GRCm39)	T75S	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nqo2	T	A	13: 34,156,361 (GRCm39)	V25E	possibly damaging	Het
Oma1	G	T	4: 103,210,726 (GRCm39)	V411L	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or5v1	T	A	17: 37,810,331 (GRCm39)	I263N	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Plec	A	T	15: 76,065,213 (GRCm39)	L1619Q	unknown	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Pphln1-ps1	A	G	16: 13,495,087 (GRCm39)	D62G	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Prkcg	A	T	7: 3,359,360 (GRCm39)	M136L	probably benign	Het
Ptprn2	T	C	12: 117,125,278 (GRCm39)	L604P	probably benign	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc46a2	A	T	4: 59,914,056 (GRCm39)	V289E	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Sox30	A	G	11: 45,875,640 (GRCm39)	N464S	possibly damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Srrm3	A	G	5: 135,881,105 (GRCm39)	D135G	probably damaging	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Syt11	T	A	3: 88,669,325 (GRCm39)	Q189L	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Trpc4	C	A	3: 54,225,550 (GRCm39)	H966Q	probably benign	Het
Ttbk1	A	T	17: 46,784,516 (GRCm39)	D316E	possibly damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Xirp1	A	T	9: 119,847,274 (GRCm39)	D536E	possibly damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	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
R9043:Art5	UTSW	7	101,748,699 (GRCm39)	start codon destroyed	probably null	0.98
R9093:Art5	UTSW	7	101,747,396 (GRCm39)	missense	probably benign	0.00
X0061:Art5	UTSW	7	101,747,587 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ATGGCCTCAGATCTCCAACTCTG -3'
(R):5'- TGCTTTGAGGAGAAGACCCC -3'

Sequencing Primer
(F):5'- TGGCTCCTAGGACTGGAAC -3'
(R):5'- CCGGGGTCTTACTATGCTATCTG -3'

Posted On

2022-10-06