Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03329:Gpbp1'

416818

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpbp1

Ensembl Gene

ENSMUSG00000032745

Gene Name

GC-rich promoter binding protein 1

Synonyms

1700034P14Rik, D230035M11Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03329

Quality Score

Status

Chromosome

Chromosomal Location

111425680-111490111 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 111453253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047627] [ENSMUST00000091236] [ENSMUST00000136471] [ENSMUST00000231096]

AlphaFold

Q6NXH3

Predicted Effect

probably benign
Transcript: ENSMUST00000047627

SMART Domains

Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745

Domain	Start	End	E-Value	Type
low complexity region	232	243	N/A	INTRINSIC
Pfam:Vasculin	395	491	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091236

SMART Domains

Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745

Domain	Start	End	E-Value	Type
low complexity region	212	223	N/A	INTRINSIC
Pfam:Vasculin	374	471	1.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129638

Predicted Effect

probably benign
Transcript: ENSMUST00000136471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156221

Predicted Effect

probably benign
Transcript: ENSMUST00000231096

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 was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,298,047	D2598G	probably benign	Het
Abcf2	T	G	5: 24,571,248		probably null	Het
Acsl1	T	A	8: 46,492,994	C55S	possibly damaging	Het
Adam22	T	A	5: 8,149,210	M249L	possibly damaging	Het
Alk	A	G	17: 71,899,164		probably benign	Het
Ambn	T	G	5: 88,461,668	S78R	probably benign	Het
Apbb1ip	T	A	2: 22,867,717	V449D	possibly damaging	Het
Atp13a5	A	T	16: 29,334,065	Y194*	probably null	Het
Cacul1	A	T	19: 60,543,051	F260Y	probably damaging	Het
Cfap46	A	G	7: 139,601,165	I2640T	probably damaging	Het
Chd7	T	C	4: 8,841,108	S1446P	probably damaging	Het
Clcn2	G	A	16: 20,712,152	T276I	probably damaging	Het
Dcbld1	T	G	10: 52,319,625	Y310D	probably damaging	Het
Dennd4c	G	A	4: 86,777,876	V157I	probably damaging	Het
Dennd5b	G	T	6: 148,998,260	T1213K	possibly damaging	Het
Dusp8	A	T	7: 142,084,360	L177*	probably null	Het
Erbb4	T	C	1: 68,328,122	S479G	probably benign	Het
Hmcn1	T	A	1: 150,732,910	Q1507L	probably damaging	Het
Inppl1	G	T	7: 101,824,380	T1021K	possibly damaging	Het
Klk1b9	A	G	7: 43,979,414	E114G	probably benign	Het
Klre1	T	C	6: 129,585,697		probably benign	Het
Lancl1	T	C	1: 67,021,050	Y72C	probably damaging	Het
Lexm	G	T	4: 106,607,404	R353S	possibly damaging	Het
Lilra6	A	G	7: 3,914,648		probably benign	Het
Magi2	T	C	5: 20,466,128	V490A	possibly damaging	Het
Myo3b	T	A	2: 70,254,459	N720K	probably damaging	Het
Olfr1018	A	C	2: 85,823,385	D138A	probably benign	Het
Olfr857	T	C	9: 19,713,301	V158A	probably benign	Het
Ppp2r3a	T	A	9: 101,126,431		probably benign	Het
Rbm47	T	C	5: 66,026,693	D189G	probably damaging	Het
Scn2a	G	A	2: 65,764,629	D1941N	probably benign	Het
Sgpp2	T	C	1: 78,390,563	I111T	probably benign	Het
Sh3bp2	T	C	5: 34,559,202	V319A	probably benign	Het
Slc12a3	A	C	8: 94,365,891	Q980P	possibly damaging	Het
Slc39a8	G	T	3: 135,884,713	G389V	probably damaging	Het
Slc5a3	T	C	16: 92,077,460	I135T	probably damaging	Het
Smu1	A	G	4: 40,739,568	V414A	possibly damaging	Het
Tlr12	A	G	4: 128,616,852	F535S	possibly damaging	Het
Trim47	A	G	11: 116,106,428	V501A	probably damaging	Het
Vmn1r16	A	T	6: 57,323,618	N6K	probably damaging	Het
Vwce	G	A	19: 10,659,996	C711Y	possibly damaging	Het
Wdr25	C	T	12: 108,898,336	L136F	probably benign	Het
Xpo1	A	G	11: 23,284,306	Q437R	probably benign	Het
Zfp169	C	A	13: 48,490,794		probably benign	Het
Zfp607b	A	T	7: 27,703,870	I584F	probably damaging	Het
Zzef1	T	A	11: 72,917,273		probably benign	Het

Other mutations in Gpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gpbp1	APN	13	111440750	missense	probably damaging	0.96
IGL01360:Gpbp1	APN	13	111426541	utr 3 prime	probably benign
IGL01609:Gpbp1	APN	13	111439202	missense	possibly damaging	0.62
IGL01747:Gpbp1	APN	13	111453050	missense	probably damaging	0.99
IGL02614:Gpbp1	APN	13	111436473	missense	probably benign	0.01
R0315:Gpbp1	UTSW	13	111436538	missense	possibly damaging	0.50
R0510:Gpbp1	UTSW	13	111440745	missense	possibly damaging	0.58
R1549:Gpbp1	UTSW	13	111436579	missense	probably benign	0.00
R1582:Gpbp1	UTSW	13	111436532	splice site	probably null
R1762:Gpbp1	UTSW	13	111440774	missense	probably benign	0.02
R2074:Gpbp1	UTSW	13	111453407	missense	probably benign	0.18
R2276:Gpbp1	UTSW	13	111466978	splice site	probably null
R3685:Gpbp1	UTSW	13	111466871	missense	probably benign	0.06
R4307:Gpbp1	UTSW	13	111448983	makesense	probably null
R4408:Gpbp1	UTSW	13	111448964	missense	possibly damaging	0.63
R4840:Gpbp1	UTSW	13	111440630	critical splice donor site	probably null
R4952:Gpbp1	UTSW	13	111440750	missense	probably damaging	0.96
R5152:Gpbp1	UTSW	13	111453281	intron	probably benign
R5376:Gpbp1	UTSW	13	111426642	missense	probably damaging	1.00
R6143:Gpbp1	UTSW	13	111466855	missense	probably damaging	0.98
R6378:Gpbp1	UTSW	13	111433612	missense	probably damaging	1.00
R6516:Gpbp1	UTSW	13	111453102	missense	probably benign	0.05
R6687:Gpbp1	UTSW	13	111438085	missense	possibly damaging	0.78
R6745:Gpbp1	UTSW	13	111453385	missense	probably benign	0.05
R7186:Gpbp1	UTSW	13	111440699	missense	possibly damaging	0.89
R7310:Gpbp1	UTSW	13	111453390	missense	probably benign	0.02
R7669:Gpbp1	UTSW	13	111439124	missense	probably benign	0.16
R7881:Gpbp1	UTSW	13	111439199	missense	possibly damaging	0.45
R8994:Gpbp1	UTSW	13	111466850	critical splice donor site	probably null
R9142:Gpbp1	UTSW	13	111426499	missense	unknown

Posted On

2016-08-02