Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01360:Gpbp1'

75707

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 #

IGL01360

Quality Score

Status

Chromosome

Chromosomal Location

111425680-111490111 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 111426541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123249 (fasta)

Gene Model

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

AlphaFold

Q6NXH3

Predicted Effect

unknown
Transcript: ENSMUST00000047627
AA Change: D478E

SMART Domains

Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: D478E

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

Predicted Effect

unknown
Transcript: ENSMUST00000091236
AA Change: D458E

SMART Domains

Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: D458E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136471

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	G	8: 36,512,559	I439V	probably benign	Het
Abca12	T	A	1: 71,286,489	I1517L	possibly damaging	Het
Akap12	A	T	10: 4,357,537	D1449V	probably benign	Het
Alg6	T	A	4: 99,742,406	Y161N	probably benign	Het
Arhgap45	A	T	10: 80,028,648		probably benign	Het
Arhgap5	A	T	12: 52,518,240	I665F	probably damaging	Het
Bbs4	A	G	9: 59,339,848	V123A	possibly damaging	Het
Carm1	C	T	9: 21,587,302	T480I	probably benign	Het
Catsperb	G	A	12: 101,625,254	V1032M	probably damaging	Het
Cdc42bpb	A	C	12: 111,342,075	I101S	probably damaging	Het
Copa	C	A	1: 172,087,588		probably null	Het
Cramp1l	T	C	17: 24,997,573	I189V	probably damaging	Het
Dhx33	G	A	11: 70,993,861	Q40*	probably null	Het
Egf	A	T	3: 129,740,020	F57Y	probably damaging	Het
Flt4	T	C	11: 49,643,506	I1168T	probably benign	Het
Gm12794	A	T	4: 101,940,468	D21V	possibly damaging	Het
Gm14178	A	G	11: 99,747,443	S37P	unknown	Het
Herc1	T	C	9: 66,483,699	S3980P	probably benign	Het
Itga6	T	C	2: 71,787,326		probably null	Het
Itgb4	T	C	11: 115,990,940	S772P	probably damaging	Het
Kcng4	C	A	8: 119,625,677	G498V	probably benign	Het
Lrp1	T	G	10: 127,545,820	D3795A	possibly damaging	Het
Lrrk2	T	A	15: 91,700,569		probably null	Het
Mettl25	A	T	10: 105,823,197	H408Q	probably damaging	Het
Mki67	T	C	7: 135,705,776	E457G	probably damaging	Het
Mpl	G	A	4: 118,455,661	T158I	possibly damaging	Het
Mtg2	C	T	2: 180,084,077	T160I	probably damaging	Het
Mtif2	A	G	11: 29,530,110	I59V	probably benign	Het
Ncapg	C	A	5: 45,674,385	S191*	probably null	Het
Nup214	T	C	2: 32,038,178		probably benign	Het
Olfr1154	T	C	2: 87,903,527	T50A	probably benign	Het
Phf3	T	A	1: 30,808,728	T1245S	probably damaging	Het
Piezo2	T	C	18: 63,117,699	D443G	probably damaging	Het
Ptchd4	C	A	17: 42,317,045	H132Q	probably benign	Het
Pum1	T	C	4: 130,728,170		probably benign	Het
Slc30a7	A	T	3: 115,990,116	V136E	probably damaging	Het
Slc5a10	A	G	11: 61,715,136	V116A	probably damaging	Het
Sos2	A	T	12: 69,590,800	S1046T	probably benign	Het
Svep1	A	G	4: 58,116,554	S899P	possibly damaging	Het
Tfr2	G	A	5: 137,571,691	V120I	probably benign	Het
Tnfrsf18	A	T	4: 156,028,036	R117*	probably null	Het
Vmn1r77	T	G	7: 12,041,388	F30L	probably benign	Het
Vmn2r112	T	C	17: 22,618,622	M688T	probably benign	Het
Vmn2r93	T	A	17: 18,305,248	D389E	possibly damaging	Het
Zpld1	T	G	16: 55,226,385	N407T	probably benign	Het
Zranb3	C	T	1: 127,959,885	W935*	probably null	Het
Zyx	G	A	6: 42,350,444	R59Q	probably damaging	Het

Other mutations in Gpbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gpbp1	APN	13	111440750	missense	probably damaging	0.96
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
IGL03329:Gpbp1	APN	13	111453253	splice site	probably benign
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

2013-10-07