Mutagenetix > Incidental Mutation

Incidental Mutation 'R4585:Art2a-ps'

344016

Institutional Source

Beutler Lab

Gene Symbol

Art2a-ps

Ensembl Gene

ENSMUSG00000092517

Gene Name

ADP-ribosyltransferase 2a, pseudogene

Synonyms

Rt6-1, Rt6, Rt-6

MMRRC Submission

041806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101552453-101560865 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101554749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 194 (L194*)

Ref Sequence

ENSEMBL: ENSMUSP00000134404 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000173420
AA Change: L194*

SMART Domains

Protein: ENSMUSP00000134404
Gene: ENSMUSG00000092517
AA Change: L194*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 3,976,151	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,310,927	R58L	probably benign	Het
Aurkaip1	C	A	4: 155,832,634	A113D	possibly damaging	Het
Bsn	T	C	9: 108,110,463		probably benign	Het
Ccdc175	T	G	12: 72,175,179	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,110,920	T131A	probably benign	Het
Ccnt2	T	C	1: 127,803,029	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,337	Q224R	probably damaging	Het
Cic	A	T	7: 25,272,778	I645L	probably benign	Het
Cngb1	C	T	8: 95,297,128		probably null	Het
Col13a1	T	C	10: 61,887,245		probably null	Het
Corin	A	T	5: 72,329,699	V706D	probably damaging	Het
Crebrf	A	G	17: 26,762,255	K535R	probably damaging	Het
Cuzd1	G	A	7: 131,314,800	P310L	probably damaging	Het
Cxcr5	T	A	9: 44,514,145	I72F	probably benign	Het
Dapp1	T	C	3: 137,939,171	Q148R	probably benign	Het
Dcaf17	T	A	2: 71,088,580	S499R	probably benign	Het
Defb3	A	T	8: 19,295,156	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,727,999		probably null	Het
Dnah8	A	G	17: 30,751,567	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,347,778	F710V	probably damaging	Het
Ep400	G	A	5: 110,753,859	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157	Q14*	probably null	Het
Eral1	A	T	11: 78,078,304	N123K	probably damaging	Het
Ercc5	G	A	1: 44,158,857	V145I	probably benign	Het
Evc	A	G	5: 37,323,713	S263P	probably damaging	Het
Fancc	A	T	13: 63,347,564	M182K	probably benign	Het
Fbxl3	G	T	14: 103,083,090	A355E	probably damaging	Het
Glra3	C	A	8: 56,088,993	T257K	probably damaging	Het
Gm12789	A	G	4: 101,989,962	Y148C	possibly damaging	Het
Gm14393	C	A	2: 175,062,704		probably benign	Het
Gm19965	T	A	1: 116,821,778	N396K	probably benign	Het
Gm27013	A	T	6: 130,521,040		noncoding transcript	Het
Gmcl1	A	G	6: 86,722,623	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,865,751		probably null	Het
Gtf2a1	C	T	12: 91,562,926	V338I	possibly damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hist1h2ak	T	C	13: 21,753,712	N39S	possibly damaging	Het
Ints2	G	T	11: 86,249,275	R244S	probably damaging	Het
Itgb4	T	C	11: 115,993,325	V945A	probably damaging	Het
Itih2	C	T	2: 10,110,400	S387N	probably benign	Het
Klra2	T	A	6: 131,230,157	D163V	probably benign	Het
Lctl	T	C	9: 64,131,600	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,723,689	R43L	probably damaging	Het
Mogs	G	T	6: 83,118,638	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,789,271	T467S	probably benign	Het
Mtap	G	A	4: 89,172,274	V194I	probably benign	Het
Myoz1	A	G	14: 20,650,595	W185R	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Obox1	A	T	7: 15,556,227	N165I	possibly damaging	Het
Olfr1218	T	G	2: 89,055,154	I91L	possibly damaging	Het
Olfr3	C	T	2: 36,812,525	C189Y	probably damaging	Het
Olfr32	T	A	2: 90,138,214	E308D	probably benign	Het
Olfr781	A	G	10: 129,333,273	T131A	probably benign	Het
Pabpc6	A	G	17: 9,669,073	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,624,284	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,762,360	A161E	probably benign	Het
Pex1	A	G	5: 3,633,885	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,743,510	H563L	probably damaging	Het
Plekha2	C	A	8: 25,043,669	E291*	probably null	Het
Qser1	C	A	2: 104,786,793	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,315,024	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,842,596	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864	T598S	unknown	Het
Scn2a	T	A	2: 65,743,051		probably null	Het
Serpinb10	T	A	1: 107,547,049	C314S	probably benign	Het
Setbp1	A	C	18: 79,086,949	S23A	probably benign	Het
Sh3pxd2b	A	G	11: 32,396,479	D116G	possibly damaging	Het
Slc4a1	G	T	11: 102,361,419		probably benign	Het
Snx19	T	C	9: 30,440,195	L155P	probably damaging	Het
Sox2	A	G	3: 34,651,044	N210S	probably benign	Het
Spag6	T	C	2: 18,732,147		probably null	Het
Speer4b	A	T	5: 27,498,038	L154Q	probably null	Het
Strn3	T	A	12: 51,650,170	E259D	probably benign	Het
Tenm1	G	A	X: 42,537,979	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,207,951	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,982,530	Q492K	probably benign	Het
Ttn	T	C	2: 76,968,403	H509R	probably benign	Het
Utrn	T	A	10: 12,688,306	H1270L	probably benign	Het
Vopp1	G	A	6: 57,754,548	P153S	probably damaging	Het
Wdfy4	T	A	14: 33,087,955	I1770F	possibly damaging	Het
Zfp14	G	T	7: 30,038,916	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,732,952	Y651*	probably null	Het
Zfp735	G	T	11: 73,689,724	E16D	possibly damaging	Het

Other mutations in Art2a-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Art2a-ps	APN	7	101554908	missense	probably damaging	1.00
IGL01754:Art2a-ps	APN	7	101554852	missense	probably damaging	1.00
R3004:Art2a-ps	UTSW	7	101554765	missense	probably benign
R4586:Art2a-ps	UTSW	7	101554749	nonsense	probably null
R6063:Art2a-ps	UTSW	7	101555206	missense	probably damaging	1.00
R6143:Art2a-ps	UTSW	7	101555223	missense	possibly damaging	0.81
R6241:Art2a-ps	UTSW	7	101555245	missense	probably benign	0.01
R6757:Art2a-ps	UTSW	7	101555014	missense	probably benign	0.02
R7693:Art2a-ps	UTSW	7	101554849	makesense	probably null
R7889:Art2a-ps	UTSW	7	101555211	missense	not run

Predicted Primers

PCR Primer
(F):5'- CAGACCCAGTCTTACCTAAGCTG -3'
(R):5'- CTTCAGCTTTTGAGTGACCAGG -3'

Sequencing Primer
(F):5'- ACCTAAGCTGCTAACGTTGG -3'
(R):5'- ACCAGGGTTGTCGTTCAGTTTAC -3'

Posted On

2015-09-24