Incidental Mutation 'IGL00916:Tfcp2'
ID29050
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 #IGL00916
Quality Score
Status
Chromosome15
Chromosomal Location100498012-100552008 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 100520678 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 201 (H201P)
Ref Sequence ENSEMBL: ENSMUSP00000155581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009877] [ENSMUST00000229265] [ENSMUST00000229581] [ENSMUST00000229696]
Predicted Effect probably benign
Transcript: ENSMUST00000009877
AA Change: H201P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: H201P

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: ENSMUST00000229265
AA Change: H4P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably damaging
Transcript: ENSMUST00000229581
AA Change: H201P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229696
AA Change: H201P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230363
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Ano4 T C 10: 88,998,098 I459V probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Eapp T C 12: 54,692,808 T75A possibly damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mreg T A 1: 72,164,132 T96S probably benign Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Ndufa13 A G 8: 69,894,419 probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rgs2 T A 1: 144,002,229 I78F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tnfaip2 T G 12: 111,453,549 I705R probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Tfcp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Tfcp2 APN 15 100513178 unclassified probably benign
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 On2013-04-17