Incidental Mutation 'R6091:Tfcp2'
ID 485943
Institutional Source Beutler Lab
Gene Symbol Tfcp2
Ensembl Gene ENSMUSG00000009733
Gene Name transcription factor CP2
Synonyms LBP1, LSF, LBP-1c, LBP-1d, CP-2, UBP-1, Tcfcp2, CP2, D230015P20Rik
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6091 (G1)
Quality Score 203.009
Status Validated
Chromosome 15
Chromosomal Location 100395893-100449889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100410194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 391 (T391N)
Ref Sequence ENSEMBL: ENSMUSP00000155683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009877] [ENSMUST00000229581] [ENSMUST00000229696]
AlphaFold Q9ERA0
Predicted Effect possibly damaging
Transcript: ENSMUST00000009877
AA Change: T389N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: T389N

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 damaging
Transcript: ENSMUST00000229581
AA Change: T391N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000229696
AA Change: T391N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000231174
Meta Mutation Damage Score 0.5748 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in Tfcp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Tfcp2 APN 15 100,411,059 (GRCm39) unclassified probably benign
IGL00916:Tfcp2 APN 15 100,418,559 (GRCm39) missense probably damaging 1.00
IGL01819:Tfcp2 APN 15 100,402,320 (GRCm39) missense probably benign 0.02
IGL02075:Tfcp2 APN 15 100,411,061 (GRCm39) unclassified probably benign
IGL02370:Tfcp2 APN 15 100,410,185 (GRCm39) missense probably damaging 1.00
IGL02608:Tfcp2 APN 15 100,411,991 (GRCm39) missense possibly damaging 0.48
IGL03001:Tfcp2 APN 15 100,426,302 (GRCm39) missense possibly damaging 0.47
R0153:Tfcp2 UTSW 15 100,412,708 (GRCm39) missense probably damaging 1.00
R2879:Tfcp2 UTSW 15 100,449,201 (GRCm39) splice site probably null
R3103:Tfcp2 UTSW 15 100,423,481 (GRCm39) missense probably damaging 1.00
R4302:Tfcp2 UTSW 15 100,412,730 (GRCm39) missense possibly damaging 0.77
R4929:Tfcp2 UTSW 15 100,426,370 (GRCm39) missense probably benign 0.29
R4965:Tfcp2 UTSW 15 100,423,531 (GRCm39) missense probably damaging 1.00
R5196:Tfcp2 UTSW 15 100,418,595 (GRCm39) missense probably damaging 1.00
R5407:Tfcp2 UTSW 15 100,425,755 (GRCm39) splice site probably null
R6136:Tfcp2 UTSW 15 100,410,194 (GRCm39) missense probably damaging 1.00
R7241:Tfcp2 UTSW 15 100,416,468 (GRCm39) missense possibly damaging 0.95
R7808:Tfcp2 UTSW 15 100,420,310 (GRCm39) missense probably damaging 1.00
R8204:Tfcp2 UTSW 15 100,420,329 (GRCm39) missense possibly damaging 0.68
R8841:Tfcp2 UTSW 15 100,410,989 (GRCm39) missense probably damaging 1.00
R8931:Tfcp2 UTSW 15 100,402,298 (GRCm39) missense possibly damaging 0.58
R9053:Tfcp2 UTSW 15 100,396,092 (GRCm39) missense
R9080:Tfcp2 UTSW 15 100,395,968 (GRCm39) frame shift probably null
R9293:Tfcp2 UTSW 15 100,411,934 (GRCm39) missense probably benign
X0011:Tfcp2 UTSW 15 100,410,961 (GRCm39) critical splice donor site probably null
X0040:Tfcp2 UTSW 15 100,416,479 (GRCm39) missense probably damaging 1.00
X0063:Tfcp2 UTSW 15 100,410,182 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAATTGACAGGAACAGCTAGAAG -3'
(R):5'- AGCTTAAATGGCGCCTCCTG -3'

Sequencing Primer
(F):5'- GGATCTAGAATTCCAACTAACGCTG -3'
(R):5'- GCGCCTCCTGTTGCAAAGAATC -3'
Posted On 2017-08-16