Incidental Mutation 'IGL00790:Tfcp2'
ID14406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfcp2
Ensembl Gene ENSMUSG00000009733
Gene Nametranscription factor CP2
SynonymsTcfcp2, CP-2, D230015P20Rik, LBP1, UBP-1, CP2, LSF, LBP-1c, LBP-1d
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00790
Quality Score
Status
Chromosome15
Chromosomal Location100498012-100552008 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 100513178 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000009877] [ENSMUST00000229581] [ENSMUST00000229696]
Predicted Effect probably benign
Transcript: ENSMUST00000009877
SMART Domains Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733

DomainStartEndE-ValueType
Pfam:CP2 44 260 8.6e-60 PFAM
low complexity region 287 302 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229581
Predicted Effect probably benign
Transcript: ENSMUST00000229696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230363
Predicted Effect probably benign
Transcript: ENSMUST00000231174
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 encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no apparent alterations in overall behavior, hematopoiesis, globin chain synthesis, or immunological function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik A G 17: 33,067,387 V147A probably damaging Het
AC139131.1 T G 7: 12,494,232 M702R probably damaging Het
Ankrd12 A T 17: 65,984,180 N1419K probably benign Het
Arhgef18 A G 8: 3,429,553 E79G probably damaging Het
Art4 T A 6: 136,854,495 Q216L probably damaging Het
Bbs4 T C 9: 59,324,065 D407G probably benign Het
Cherp A G 8: 72,468,246 I277T probably damaging Het
Cnot2 A G 10: 116,507,071 M119T probably benign Het
Disp2 T A 2: 118,786,278 C73S probably damaging Het
Dock4 T C 12: 40,834,391 S1686P probably damaging Het
Dsc1 C T 18: 20,094,896 G468S probably damaging Het
Duox2 T A 2: 122,292,300 D551V possibly damaging Het
Gmip T A 8: 69,817,011 Y585* probably null Het
Gnal A G 18: 67,134,289 probably null Het
Idh1 T G 1: 65,166,122 Q228P possibly damaging Het
Igsf10 A T 3: 59,319,517 I2245N probably damaging Het
Mrgpra4 A T 7: 47,981,304 M183K possibly damaging Het
Npr2 T A 4: 43,641,612 V472D possibly damaging Het
Pcdh7 A T 5: 57,721,464 N787I probably damaging Het
Ppp1r10 A T 17: 35,924,859 N111I probably damaging Het
Ppp3ca A G 3: 136,935,181 N508D probably benign Het
Rgs17 A G 10: 5,862,624 Q25P possibly damaging Het
Slco6d1 T A 1: 98,421,200 probably benign Het
Tab3 T A X: 85,621,604 N591K probably damaging Het
Them5 A T 3: 94,343,409 D93V probably damaging Het
Thoc5 T G 11: 4,918,147 V275G probably damaging Het
Trmt1l T C 1: 151,442,712 probably null Het
Zdbf2 G T 1: 63,306,514 V1351F possibly damaging Het
Zfp14 G T 7: 30,038,887 Y224* probably null Het
Other mutations in Tfcp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Tfcp2 APN 15 100520678 missense probably damaging 1.00
IGL01819:Tfcp2 APN 15 100504439 missense probably benign 0.02
IGL02075:Tfcp2 APN 15 100513180 unclassified probably benign
IGL02370:Tfcp2 APN 15 100512304 missense probably damaging 1.00
IGL02608:Tfcp2 APN 15 100514110 missense possibly damaging 0.48
IGL03001:Tfcp2 APN 15 100528421 missense possibly damaging 0.47
R0153:Tfcp2 UTSW 15 100514827 missense probably damaging 1.00
R2879:Tfcp2 UTSW 15 100551320 unclassified probably null
R3103:Tfcp2 UTSW 15 100525600 missense probably damaging 1.00
R4302:Tfcp2 UTSW 15 100514849 missense possibly damaging 0.77
R4929:Tfcp2 UTSW 15 100528489 missense probably benign 0.29
R4965:Tfcp2 UTSW 15 100525650 missense probably damaging 1.00
R5196:Tfcp2 UTSW 15 100520714 missense probably damaging 1.00
R5407:Tfcp2 UTSW 15 100527874 splice site probably null
R6091:Tfcp2 UTSW 15 100512313 missense probably damaging 1.00
R6136:Tfcp2 UTSW 15 100512313 missense probably damaging 1.00
R7241:Tfcp2 UTSW 15 100518587 missense possibly damaging 0.95
R7808:Tfcp2 UTSW 15 100522429 missense probably damaging 1.00
X0011:Tfcp2 UTSW 15 100513080 critical splice donor site probably null
X0040:Tfcp2 UTSW 15 100518598 missense probably damaging 1.00
X0063:Tfcp2 UTSW 15 100512301 missense probably damaging 1.00
Posted On2012-12-06