Incidental Mutation 'IGL02614:Gpbp1'
ID300604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpbp1
Ensembl Gene ENSMUSG00000032745
Gene NameGC-rich promoter binding protein 1
Synonyms1700034P14Rik, D230035M11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02614
Quality Score
Status
Chromosome13
Chromosomal Location111425680-111490111 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111436473 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 382 (I382V)
Ref Sequence ENSEMBL: ENSMUSP00000048240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047627] [ENSMUST00000091236] [ENSMUST00000136471] [ENSMUST00000231096]
Predicted Effect probably benign
Transcript: ENSMUST00000047627
AA Change: I382V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000048240
Gene: ENSMUSG00000032745
AA Change: I382V

DomainStartEndE-ValueType
low complexity region 232 243 N/A INTRINSIC
Pfam:Vasculin 395 491 1.9e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091236
AA Change: I362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088777
Gene: ENSMUSG00000032745
AA Change: I362V

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,896,368 probably benign Het
Acadsb A G 7: 131,424,628 T67A probably benign Het
Aff2 A G X: 69,864,087 D1225G possibly damaging Het
Atp2a2 T C 5: 122,489,303 D133G probably benign Het
Cacul1 A T 19: 60,563,223 M187K possibly damaging Het
Ccdc129 A T 6: 55,968,277 D661V probably damaging Het
Celf4 A G 18: 25,504,150 Y263H probably damaging Het
Cmbl G T 15: 31,589,684 V187F probably damaging Het
Epha1 T C 6: 42,360,557 N896S probably benign Het
Fbxo27 G A 7: 28,696,776 probably null Het
Galnt16 T C 12: 80,576,563 S166P probably damaging Het
Gm1110 A G 9: 26,920,714 V47A probably benign Het
Gmnn A G 13: 24,760,154 probably benign Het
Gpr87 C A 3: 59,179,317 V256L probably damaging Het
Il4ra C A 7: 125,575,790 S390* probably null Het
Lrrc47 T C 4: 154,018,935 probably null Het
Lrriq4 A T 3: 30,655,639 L362F probably damaging Het
Lrrtm4 A T 6: 80,021,844 N79Y probably benign Het
Nr1i2 T A 16: 38,253,756 H165L probably damaging Het
Olfr1511 T C 14: 52,390,170 E201G probably damaging Het
Phf11a T A 14: 59,279,368 T214S possibly damaging Het
Prr14l A T 5: 32,830,543 I536K possibly damaging Het
Rpn1 T A 6: 88,102,105 I510N probably benign Het
Sall4 A T 2: 168,755,885 L20Q probably null Het
Sema3f T C 9: 107,682,511 E759G probably benign Het
Slc5a1 T C 5: 33,154,601 S446P probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Ttn T C 2: 76,711,987 T31806A possibly damaging Het
Ubr1 T C 2: 120,870,979 probably benign Het
Vac14 T G 8: 110,635,118 L214R probably damaging Het
Vmn2r58 T C 7: 41,837,129 K781E probably damaging Het
Vmn2r92 T C 17: 18,167,241 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp609 G A 9: 65,702,790 P964S probably damaging Het
Other mutations in Gpbp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 unclassified 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
Posted On2015-04-16