Mutagenetix > Incidental Mutation

Incidental Mutation 'R7580:Purg'

586690

Institutional Source

Beutler Lab

Gene Symbol

Purg

Ensembl Gene

ENSMUSG00000049184

Gene Name

purine-rich element binding protein G

Synonyms

4930486B15Rik

MMRRC Submission

045664-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33876353-33907495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33906661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 317 (Y317C)

Ref Sequence

ENSEMBL: ENSMUSP00000077205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078058]

AlphaFold

Q8R4E6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078058
AA Change: Y317C

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077205
Gene: ENSMUSG00000049184
AA Change: Y317C

Domain	Start	End	E-Value	Type
low complexity region	3	27	N/A	INTRINSIC
PUR	62	130	3.39e-16	SMART
PUR	173	247	1.25e-19	SMART
PUR	264	317	2.1e-2	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,993,040 (GRCm39)	Y213F	probably damaging	Het
Adamdec1	A	G	14: 68,802,980 (GRCm39)	S462P	probably benign	Het
Adamtsl1	T	A	4: 85,972,301 (GRCm39)	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836 (GRCm39)	E123K	probably benign	Het
Brip1	A	G	11: 86,048,427 (GRCm39)	L305P	probably damaging	Het
Cage1	T	A	13: 38,206,700 (GRCm39)	I382F	possibly damaging	Het
Cfap52	T	A	11: 67,837,146 (GRCm39)	K205I	probably damaging	Het
Cmtr2	T	A	8: 110,948,309 (GRCm39)	N206K	probably damaging	Het
Defb34	G	A	8: 19,176,426 (GRCm39)	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,428,296 (GRCm39)	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,816,423 (GRCm39)	A325V	probably benign	Het
Dnah8	A	G	17: 30,994,077 (GRCm39)	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,183,130 (GRCm39)	I96K	probably damaging	Het
Endov	C	T	11: 119,390,692 (GRCm39)		probably benign	Het
Fer1l6	A	T	15: 58,430,245 (GRCm39)	Q224L	probably benign	Het
Fmo2	T	C	1: 162,704,613 (GRCm39)	N431S	possibly damaging	Het
Gata3	A	C	2: 9,867,943 (GRCm39)	V337G	probably damaging	Het
Gtse1	G	A	15: 85,746,432 (GRCm39)	V83M	probably damaging	Het
Hgd	C	A	16: 37,439,241 (GRCm39)	P224H	possibly damaging	Het
Kcnh6	T	C	11: 105,908,374 (GRCm39)	V330A	probably damaging	Het
Kiz	C	G	2: 146,798,169 (GRCm39)	I631M	probably damaging	Het
Klhl18	T	C	9: 110,265,118 (GRCm39)	D366G	probably benign	Het
Lrmda	C	T	14: 22,069,925 (GRCm39)		probably benign	Het
Mc1r	G	T	8: 124,134,906 (GRCm39)	A220S	probably damaging	Het
Megf6	T	A	4: 154,355,201 (GRCm39)	C1505*	probably null	Het
Mmp20	C	T	9: 7,654,144 (GRCm39)	R355*	probably null	Het
Mmp28	T	A	11: 83,335,658 (GRCm39)	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,370,488 (GRCm39)	A70T	probably damaging	Het
Mtif3	T	G	5: 146,895,757 (GRCm39)	D110A	possibly damaging	Het
Mtss2	G	A	8: 111,464,268 (GRCm39)	R361H	possibly damaging	Het
Mvp	T	C	7: 126,591,483 (GRCm39)	D542G	probably damaging	Het
Nlrp5	T	C	7: 23,133,174 (GRCm39)	C940R	probably damaging	Het
Nmur2	C	T	11: 55,917,808 (GRCm39)	V394I	probably benign	Het
Nwd2	A	G	5: 63,965,624 (GRCm39)	H1736R	probably benign	Het
Or2n1c	T	C	17: 38,519,934 (GRCm39)	I266T	probably benign	Het
Pira13	A	T	7: 3,827,611 (GRCm39)	F182Y	unknown	Het
Ralgapa1	T	A	12: 55,765,013 (GRCm39)	M880L	probably benign	Het
Rap1gap	T	C	4: 137,447,293 (GRCm39)	F413L	possibly damaging	Het
Sart3	A	T	5: 113,892,440 (GRCm39)		probably null	Het
Scaf4	G	A	16: 90,026,740 (GRCm39)	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,819,735 (GRCm39)	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,065,330 (GRCm39)	V184L		Het
Slc5a11	C	T	7: 122,864,421 (GRCm39)	A339V	probably damaging	Het
Stab2	A	T	10: 86,705,028 (GRCm39)	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,387,056 (GRCm39)	D172N	probably benign	Het
Tasor	A	G	14: 27,188,243 (GRCm39)	I896M	probably benign	Het
Tasor2	G	A	13: 3,624,752 (GRCm39)	P1733S	probably damaging	Het
Thoc1	A	T	18: 9,986,343 (GRCm39)	K358N	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Ttll8	A	C	15: 88,818,132 (GRCm39)	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,461,784 (GRCm39)	Q159*	probably null	Het
Xrn1	A	G	9: 95,893,732 (GRCm39)	H967R	not run	Het
Zeb2	T	C	2: 44,884,544 (GRCm39)	D1049G	probably damaging	Het

Other mutations in Purg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Purg	APN	8	33,876,631 (GRCm39)	missense	probably damaging	0.99
R1116:Purg	UTSW	8	33,876,773 (GRCm39)	missense	probably benign	0.37
R1185:Purg	UTSW	8	33,876,897 (GRCm39)	nonsense	probably null
R1185:Purg	UTSW	8	33,876,897 (GRCm39)	nonsense	probably null
R1185:Purg	UTSW	8	33,876,897 (GRCm39)	nonsense	probably null
R2945:Purg	UTSW	8	33,876,671 (GRCm39)	missense	probably damaging	1.00
R3859:Purg	UTSW	8	33,876,587 (GRCm39)	missense	possibly damaging	0.75
R4016:Purg	UTSW	8	33,877,019 (GRCm39)	nonsense	probably null
R4296:Purg	UTSW	8	33,877,321 (GRCm39)	missense	probably damaging	1.00
R4854:Purg	UTSW	8	33,877,342 (GRCm39)	missense	possibly damaging	0.93
R5928:Purg	UTSW	8	33,876,980 (GRCm39)	missense	probably benign	0.00
R6337:Purg	UTSW	8	33,876,451 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AACTGGAGGGTTTGTTACATGC -3'
(R):5'- TTCCGCATAAGGGCAGTGTG -3'

Sequencing Primer
(F):5'- TCTGCTGGAAAGGTTTTCAATTATAC -3'
(R):5'- GCAGTGTGAATATGATGCCAATG -3'

Posted On

2019-10-24