Incidental Mutation 'R9080:Tfcp2'
ID 689985
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9080 (G1)
Quality Score 118.592
Status Not validated
Chromosome 15
Chromosomal Location 100395893-100449889 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA to GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA at 100395968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000009877] [ENSMUST00000061457] [ENSMUST00000229696]
AlphaFold Q9ERA0
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: ENSMUST00000061457
SMART Domains Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:CSRNP_N 61 280 5e-106 PFAM
low complexity region 330 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229696
Predicted Effect probably null
Transcript: ENSMUST00000231174
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,155,973 (GRCm39) I13T unknown Het
Adad1 G T 3: 37,119,398 (GRCm39) V160L probably benign Het
Adamts6 T A 13: 104,449,427 (GRCm39) M279K probably damaging Het
Adgra2 T C 8: 27,604,529 (GRCm39) S535P probably benign Het
Akr1c13 C T 13: 4,241,172 (GRCm39) probably benign Het
Anapc1 A G 2: 128,464,426 (GRCm39) I1690T possibly damaging Het
Ccdc138 A G 10: 58,397,884 (GRCm39) M575V probably damaging Het
Cfap100 T C 6: 90,383,183 (GRCm39) N330S unknown Het
Col12a1 T C 9: 79,517,133 (GRCm39) D2849G probably benign Het
Cox11 G A 11: 90,535,246 (GRCm39) M232I probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cspp1 G A 1: 10,183,919 (GRCm39) S848N probably benign Het
Cxcr5 A G 9: 44,424,563 (GRCm39) S365P probably damaging Het
Dclre1c A T 2: 3,458,589 (GRCm39) M389L probably benign Het
Dlc1 T C 8: 37,052,006 (GRCm39) D124G probably benign Het
Dtx3 A T 10: 127,027,137 (GRCm39) S346T possibly damaging Het
Exosc10 A G 4: 148,649,121 (GRCm39) D337G probably damaging Het
Fpr1 G A 17: 18,097,212 (GRCm39) A259V probably benign Het
Gm11232 A T 4: 71,676,070 (GRCm39) M25K probably benign Het
Gm4950 A G 18: 51,998,922 (GRCm39) V11A possibly damaging Het
Gsap C T 5: 21,399,410 (GRCm39) T37I possibly damaging Het
Igfbp2 T A 1: 72,891,157 (GRCm39) C252S probably damaging Het
Ing2 T C 8: 48,121,808 (GRCm39) T247A possibly damaging Het
Ints1 C T 5: 139,739,300 (GRCm39) V2028M probably benign Het
Itfg1 A G 8: 86,466,874 (GRCm39) F400L possibly damaging Het
Itga6 A G 2: 71,673,633 (GRCm39) Y889C probably benign Het
Kcnh3 A G 15: 99,139,667 (GRCm39) E882G probably damaging Het
Limch1 T A 5: 67,174,992 (GRCm39) C515S probably benign Het
Lrrc74a G T 12: 86,795,908 (GRCm39) V294F possibly damaging Het
Megf8 A G 7: 25,041,131 (GRCm39) E1120G probably damaging Het
Nbea A T 3: 55,912,516 (GRCm39) Y1090* probably null Het
Nckap1 A G 2: 80,350,726 (GRCm39) Y794H probably damaging Het
Nfib T C 4: 82,623,754 (GRCm39) M25V Het
Ogfod2 A G 5: 124,253,007 (GRCm39) E339G probably damaging Het
Olah T A 2: 3,349,389 (GRCm39) E64V probably damaging Het
Or2a14 T A 6: 43,130,830 (GRCm39) V197D possibly damaging Het
Or9a4 T A 6: 40,548,563 (GRCm39) L81H probably damaging Het
Pdcd6ip T A 9: 113,520,624 (GRCm39) K120M probably damaging Het
Pex1 A G 5: 3,655,476 (GRCm39) I134V probably damaging Het
Plekhm2 T C 4: 141,359,039 (GRCm39) H576R probably damaging Het
Ptpn13 T A 5: 103,637,494 (GRCm39) H127Q probably damaging Het
Rmnd5b C T 11: 51,515,055 (GRCm39) probably null Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sec16b C A 1: 157,393,300 (GRCm39) Q995K probably benign Het
Serpinb6d T A 13: 33,855,107 (GRCm39) S260R probably benign Het
Slc47a1 C T 11: 61,264,219 (GRCm39) G67S possibly damaging Het
Slco6d1 T C 1: 98,348,983 (GRCm39) V18A probably benign Het
Tiam2 T G 17: 3,464,519 (GRCm39) C83G probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tln2 C T 9: 67,253,843 (GRCm39) G743R probably damaging Het
Tnks CCCGCCGCCGCCGCCGCCGCCG CCCGCCGCCGCCGCCGCCG 8: 35,432,466 (GRCm39) probably benign Het
Ttn G A 2: 76,536,843 (GRCm39) T34994I probably benign Het
Ube2q2l T A 6: 136,377,720 (GRCm39) D370V probably damaging Het
Uggt2 T A 14: 119,295,017 (GRCm39) E536D probably benign Het
Usp54 T C 14: 20,612,308 (GRCm39) E836G probably damaging Het
Vmn1r41 C T 6: 89,724,138 (GRCm39) T63M unknown Het
Vmn2r72 A C 7: 85,387,464 (GRCm39) I700S probably damaging Het
Xrcc4 T C 13: 90,149,097 (GRCm39) N141S probably damaging Het
Zfp638 T C 6: 83,844,155 (GRCm39) V6A unknown 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
R6091:Tfcp2 UTSW 15 100,410,194 (GRCm39) missense probably damaging 1.00
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
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'- ACGTGTCAAATGACTTGTAGGTG -3'
(R):5'- GAACCATTCAGCAGCAGGAC -3'

Sequencing Primer
(F):5'- CAAATGACTTGTAGGTGTGTCCCAG -3'
(R):5'- ACAGCCACCAGTCCATCTCTTTG -3'
Posted On 2021-11-19