Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00536:Pura'

13230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pura

Ensembl Gene

ENSMUSG00000043991

Gene Name

purine rich element binding protein A

Synonyms

ssCRE-BP, Pur-alpha, Pur alpha, CAGER-1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00536

Quality Score

Status

Chromosome

Chromosomal Location

36414150-36425588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36420943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 243 (M243I)

Ref Sequence

ENSEMBL: ENSMUSP00000059404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051301]

AlphaFold

P42669

Predicted Effect

probably benign
Transcript: ENSMUST00000051301
AA Change: M243I

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059404
Gene: ENSMUSG00000043991
AA Change: M243I

Domain	Start	End	E-Value	Type
low complexity region	6	56	N/A	INTRINSIC
PUR	59	121	3.08e-28	SMART
PUR	141	209	6.26e-29	SMART
PUR	217	278	3.6e-29	SMART
low complexity region	292	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209540

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are overtly normal within the first few weeks of life but later manifest severe neurological defects and die shortly after weaning. Neuroanatomical abnormalities are also observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,370,242 (GRCm39)	C506Y	probably damaging	Het
Bahcc1	A	G	11: 120,175,871 (GRCm39)	E1899G	probably damaging	Het
Celsr3	C	T	9: 108,706,391 (GRCm39)	T958I	probably benign	Het
Dock11	T	C	X: 35,258,087 (GRCm39)	V644A	probably benign	Het
Dyrk2	C	A	10: 118,696,097 (GRCm39)	R387L	probably damaging	Het
Fam234b	A	G	6: 135,202,202 (GRCm39)	Y308C	probably damaging	Het
Ik	A	T	18: 36,889,921 (GRCm39)	R517*	probably null	Het
Lipo4	T	A	19: 33,493,086 (GRCm39)	Y49F	probably damaging	Het
Rsph4a	T	C	10: 33,787,652 (GRCm39)		probably benign	Het
Scaf4	G	T	16: 90,054,250 (GRCm39)	P213Q	unknown	Het
Slc39a12	A	T	2: 14,400,879 (GRCm39)		probably benign	Het
Tex11	C	T	X: 100,076,165 (GRCm39)	C156Y	probably null	Het
Vdac2	G	A	14: 21,888,511 (GRCm39)	G138S	probably benign	Het
Zan	C	T	5: 137,444,944 (GRCm39)	V1772I	unknown	Het
Zscan2	C	T	7: 80,525,164 (GRCm39)	T295M	probably damaging	Het

Other mutations in Pura

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02326:Pura	APN	18	36,420,831 (GRCm39)	missense	probably damaging	1.00
R0900:Pura	UTSW	18	36,420,720 (GRCm39)	missense	probably damaging	1.00
R2259:Pura	UTSW	18	36,420,803 (GRCm39)	missense	possibly damaging	0.59
R6718:Pura	UTSW	18	36,420,696 (GRCm39)	missense	probably damaging	1.00
R7494:Pura	UTSW	18	36,420,942 (GRCm39)	missense	probably damaging	0.97
R9365:Pura	UTSW	18	36,420,913 (GRCm39)	missense	possibly damaging	0.94
W0251:Pura	UTSW	18	36,420,843 (GRCm39)	missense	probably benign	0.01
X0027:Pura	UTSW	18	36,420,681 (GRCm39)	missense	possibly damaging	0.88

Posted On

2012-12-06