Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Purb'

213830

Institutional Source

Beutler Lab

Gene Symbol

Purb

Ensembl Gene

ENSMUSG00000094483

Gene Name

purine rich element binding protein B

Synonyms

Cager-2, 2310015K15Rik, D11Bwg0414e

MMRRC Submission

039957-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

R1939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6417599-6425917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6424943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 315 (E315G)

Ref Sequence

ENSEMBL: ENSMUSP00000136957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179343]

AlphaFold

O35295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175144

Predicted Effect

unknown
Transcript: ENSMUST00000179343
AA Change: E315G

SMART Domains

Protein: ENSMUSP00000136957
Gene: ENSMUSG00000094483
AA Change: E315G

Domain	Start	End	E-Value	Type
low complexity region	11	39	N/A	INTRINSIC
PUR	45	107	1.11e-29	SMART
PUR	130	206	1.23e-27	SMART
PUR	231	292	6.56e-23	SMART
low complexity region	304	323	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

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]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,331,130 (GRCm39)	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,207,186 (GRCm39)		probably null	Het
4933409G03Rik	T	C	2: 68,419,328 (GRCm39)	S26P	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acot3	A	G	12: 84,105,325 (GRCm39)	N264S	probably benign	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam22	A	T	5: 8,380,015 (GRCm39)	F94L	probably damaging	Het
Adarb2	T	C	13: 8,253,358 (GRCm39)		probably null	Het
Aldh1b1	A	G	4: 45,802,755 (GRCm39)	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,715,548 (GRCm39)	V1331D	probably damaging	Het
Atf2	G	A	2: 73,676,563 (GRCm39)	P184S	probably damaging	Het
Atp8b3	A	T	10: 80,361,220 (GRCm39)	C785*	probably null	Het
Birc6	T	C	17: 74,977,332 (GRCm39)	S4362P	probably damaging	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,895,073 (GRCm39)	H115R	probably benign	Het
Col23a1	A	G	11: 51,442,816 (GRCm39)	D159G	unknown	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Dnase2a	G	T	8: 85,637,524 (GRCm39)	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Engase	T	A	11: 118,370,012 (GRCm39)	N97K	probably damaging	Het
Fam83b	A	T	9: 76,400,362 (GRCm39)	M247K	probably damaging	Het
Fer	T	C	17: 64,280,123 (GRCm39)	S65P	probably damaging	Het
Fgf10	A	G	13: 118,925,688 (GRCm39)	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm904	T	C	13: 50,798,772 (GRCm39)		probably null	Het
Gpat2	T	A	2: 127,277,879 (GRCm39)	*802K	probably null	Het
Hcfc2	G	T	10: 82,538,284 (GRCm39)	R107L	probably damaging	Het
Itga8	T	G	2: 12,305,657 (GRCm39)	D111A	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lgals8	T	G	13: 12,474,069 (GRCm39)	I10L	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Mcpt1	A	T	14: 56,256,546 (GRCm39)	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,322,920 (GRCm39)	F384S	probably damaging	Het
Mrgprb5	A	T	7: 47,818,686 (GRCm39)	N16K	probably benign	Het
Myo15b	A	G	11: 115,778,529 (GRCm39)	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,794,801 (GRCm39)	I53R	possibly damaging	Het
Nav1	A	T	1: 135,393,636 (GRCm39)	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,459,379 (GRCm39)	Y54C	probably damaging	Het
Or10j3b	G	T	1: 173,043,499 (GRCm39)	A94S	probably benign	Het
Or5p58	A	G	7: 107,694,348 (GRCm39)	V143A	probably benign	Het
Or6c217	A	C	10: 129,737,970 (GRCm39)	M203R	probably damaging	Het
Or8b35	A	G	9: 37,904,385 (GRCm39)	N199S	probably benign	Het
Or8c15	T	A	9: 38,120,725 (GRCm39)	Y72*	probably null	Het
Osbpl8	A	T	10: 111,125,672 (GRCm39)	H784L	probably benign	Het
Osr1	T	G	12: 9,629,687 (GRCm39)	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,772,921 (GRCm39)	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,889,927 (GRCm39)	T400A	probably damaging	Het
Pms1	A	C	1: 53,236,135 (GRCm39)	L715R	probably damaging	Het
Prkd1	T	C	12: 50,441,777 (GRCm39)	N254S	probably benign	Het
Prkdc	T	C	16: 15,653,777 (GRCm39)	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,769,560 (GRCm39)	N435S	probably benign	Het
Rap1b	A	T	10: 117,654,491 (GRCm39)	N116K	probably damaging	Het
Rmc1	T	C	18: 12,313,562 (GRCm39)	L15P	probably damaging	Het
Rp1l1	A	G	14: 64,267,042 (GRCm39)	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,816,834 (GRCm39)	I114F	probably damaging	Het
Semp2l1	T	C	1: 32,584,627 (GRCm39)	I428V	probably damaging	Het
Sh3bp2	A	G	5: 34,708,963 (GRCm39)	N19D	probably damaging	Het
Slc16a4	A	G	3: 107,208,317 (GRCm39)	M276V	probably benign	Het
Slc17a1	A	G	13: 24,059,864 (GRCm39)	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581 (GRCm38)	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,078,956 (GRCm39)	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St3gal6	A	T	16: 58,293,924 (GRCm39)		probably null	Het
Tdp2	A	G	13: 25,025,260 (GRCm39)	D343G	probably benign	Het
Tecpr2	T	A	12: 110,899,603 (GRCm39)	L657Q	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,248,426 (GRCm39)	F28I	probably damaging	Het
Trim32	G	A	4: 65,532,303 (GRCm39)	V287I	probably benign	Het
Trpd52l3	T	C	19: 29,981,289 (GRCm39)	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 106,566,670 (GRCm39)	I169V	probably benign	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,830,765 (GRCm39)	Q18L	probably null	Het
Ttll8	A	T	15: 88,799,689 (GRCm39)	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ucp3	T	C	7: 100,129,871 (GRCm39)	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,453,532 (GRCm39)	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,339,852 (GRCm39)	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,305,976 (GRCm39)	D393G	probably benign	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp976	C	A	7: 42,263,105 (GRCm39)	C244F	unknown	Het
Zmym5	A	G	14: 57,036,577 (GRCm39)	V190A	probably damaging	Het

Other mutations in Purb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0764:Purb	UTSW	11	6,425,661 (GRCm39)	missense	probably damaging	1.00
R4666:Purb	UTSW	11	6,425,615 (GRCm39)	missense	probably damaging	1.00
R5512:Purb	UTSW	11	6,425,702 (GRCm39)	missense	probably damaging	0.99
R6028:Purb	UTSW	11	6,425,150 (GRCm39)	missense	probably damaging	1.00
R9478:Purb	UTSW	11	6,425,424 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTTCCTTGGAACTTAACTGC -3'
(R):5'- CAACAAGTACGGGGTGTTCC -3'

Sequencing Primer
(F):5'- AGTTCCTTGGAACTTAACTGCTTTTC -3'
(R):5'- TTCCTGCGAGTGAGCGAG -3'

Posted On

2014-07-14