Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01014:Art2a'

53661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Art2a

Ensembl Gene

ENSMUSG00000092517

Gene Name

ADP-ribosyltransferase 2a

Synonyms

Art2a-ps, Rt6, Rt6-1, Rt-6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL01014

Quality Score

Status

Chromosome

Chromosomal Location

101201660-101210072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101204115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 141 (C141F)

Ref Sequence

ENSEMBL: ENSMUSP00000134404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173420]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000173420
AA Change: C141F

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

SMART Domains

Protein: ENSMUSP00000134404
Gene: ENSMUSG00000092517
AA Change: C141F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ART	27	241	1.2e-89	PFAM
low complexity region	266	286	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,455,576 (GRCm39)	M401I	probably benign	Het
Adgra1	C	T	7: 139,455,577 (GRCm39)	H402Y	probably damaging	Het
Akap13	T	C	7: 75,400,381 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Aox1	T	C	1: 58,361,960 (GRCm39)	F722S	possibly damaging	Het
Arhgef39	G	A	4: 43,499,502 (GRCm39)	R36C	probably damaging	Het
Brwd1	A	G	16: 95,817,373 (GRCm39)	F1380L	probably benign	Het
Cadps2	A	T	6: 23,496,873 (GRCm39)	N102K	possibly damaging	Het
Ccdc30	C	A	4: 119,250,776 (GRCm39)	R22L	possibly damaging	Het
Ccdc74a	A	T	16: 17,467,661 (GRCm39)	T200S	possibly damaging	Het
Cd200	G	A	16: 45,215,063 (GRCm39)	T196I	probably benign	Het
Cd244a	A	G	1: 171,401,856 (GRCm39)	Y194C	probably damaging	Het
Cdh23	T	C	10: 60,143,301 (GRCm39)	T3009A	probably damaging	Het
Clec12b	T	A	6: 129,362,393 (GRCm39)	N21Y	probably damaging	Het
Cntln	A	G	4: 84,968,145 (GRCm39)	E788G	probably benign	Het
Col11a1	C	T	3: 113,917,458 (GRCm39)		probably benign	Het
Cttnbp2	T	A	6: 18,423,894 (GRCm39)	N810I	probably damaging	Het
Dhx15	A	T	5: 52,309,266 (GRCm39)	V719D	probably damaging	Het
Dnah6	A	G	6: 73,051,764 (GRCm39)		probably benign	Het
Dnajc13	A	G	9: 104,080,417 (GRCm39)	I888T	probably damaging	Het
Fasn	T	C	11: 120,708,055 (GRCm39)	K666E	probably damaging	Het
Gnas	C	T	2: 174,139,767 (GRCm39)		probably benign	Het
Lmntd2	T	C	7: 140,793,952 (GRCm39)	Q7R	probably damaging	Het
Lmo7	G	A	14: 102,157,993 (GRCm39)		probably benign	Het
Lrrc55	A	G	2: 85,026,559 (GRCm39)	I155T	possibly damaging	Het
Meis3	C	T	7: 15,912,872 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,742,187 (GRCm39)	V334M	probably damaging	Het
Myo3a	A	G	2: 22,337,284 (GRCm39)	I386V	probably benign	Het
Neb	C	A	2: 52,177,170 (GRCm39)	M1390I	probably benign	Het
Nmd3	G	A	3: 69,633,719 (GRCm39)	V69I	probably benign	Het
Nsmce3	G	T	7: 64,522,382 (GRCm39)	D95E	possibly damaging	Het
Or4c12	T	C	2: 89,773,604 (GRCm39)	Y285C	probably damaging	Het
Or4f58	A	G	2: 111,851,477 (GRCm39)	S241P	probably damaging	Het
Or5w16	T	C	2: 87,577,469 (GRCm39)	F310L	probably benign	Het
Pde4d	T	C	13: 110,086,036 (GRCm39)	V538A	probably damaging	Het
Pgap6	T	A	17: 26,335,983 (GRCm39)		probably benign	Het
Plxnb1	A	T	9: 108,935,102 (GRCm39)	H982L	probably benign	Het
Pold2	G	T	11: 5,822,293 (GRCm39)	Q459K	probably benign	Het
Ptpn14	G	A	1: 189,554,830 (GRCm39)	R130Q	probably damaging	Het
Rnf10	A	T	5: 115,395,042 (GRCm39)	L182Q	probably damaging	Het
Syne2	G	A	12: 75,952,051 (GRCm39)	D440N	probably damaging	Het
Tlcd1	G	A	11: 78,070,283 (GRCm39)		probably null	Het
Tpte	A	T	8: 22,810,898 (GRCm39)	Y185F	probably benign	Het

Other mutations in Art2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Art2a	APN	7	101,204,059 (GRCm39)	missense	probably damaging	1.00
R3004:Art2a	UTSW	7	101,203,972 (GRCm39)	missense	probably benign
R4585:Art2a	UTSW	7	101,203,956 (GRCm39)	nonsense	probably null
R4586:Art2a	UTSW	7	101,203,956 (GRCm39)	nonsense	probably null
R6063:Art2a	UTSW	7	101,204,413 (GRCm39)	missense	probably damaging	1.00
R6143:Art2a	UTSW	7	101,204,430 (GRCm39)	missense	possibly damaging	0.81
R6241:Art2a	UTSW	7	101,204,452 (GRCm39)	missense	probably benign	0.01
R6757:Art2a	UTSW	7	101,204,221 (GRCm39)	missense	probably benign	0.02
R7693:Art2a	UTSW	7	101,204,056 (GRCm39)	makesense	probably null
R7889:Art2a	UTSW	7	101,204,418 (GRCm39)	missense	not run

Posted On

2013-06-28