Incidental Mutation 'R4302:Tfcp2'
ID 322470
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 041089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4302 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100395893-100449889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100412730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 307 (N307K)
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: N307K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: N307K

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
AA Change: N307K

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229696
AA Change: N307K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230363
Predicted Effect probably benign
Transcript: ENSMUST00000231174
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,540,279 (GRCm39) Y1445C probably damaging Het
Arhgef12 G A 9: 42,929,645 (GRCm39) Q217* probably null Het
Bcas1 A G 2: 170,260,547 (GRCm39) V44A probably benign Het
Cfap251 T C 5: 123,431,873 (GRCm39) I549T probably benign Het
Clic4 A G 4: 134,953,350 (GRCm39) V98A probably benign Het
Col6a3 A T 1: 90,735,336 (GRCm39) I771N probably damaging Het
Creb3l1 T C 2: 91,823,664 (GRCm39) I183V probably damaging Het
Dnhd1 T A 7: 105,343,161 (GRCm39) W1502R probably damaging Het
Dync2h1 A T 9: 7,077,880 (GRCm39) S2941T probably benign Het
Gm973 A G 1: 59,590,399 (GRCm39) Y302C possibly damaging Het
Hcfc1 A G X: 72,992,972 (GRCm39) S1398P probably benign Het
Igsf10 T C 3: 59,226,171 (GRCm39) I2501V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Man2a2 T A 7: 80,001,487 (GRCm39) E1140V possibly damaging Het
Mgam A G 6: 40,740,019 (GRCm39) D1664G probably benign Het
Mill2 A T 7: 18,590,456 (GRCm39) T179S probably damaging Het
Ncf4 T C 15: 78,144,962 (GRCm39) probably benign Het
Nol12 T C 15: 78,824,341 (GRCm39) S154P probably damaging Het
Nup58 A G 14: 60,484,875 (GRCm39) S50P probably benign Het
Or11j4 T C 14: 50,630,903 (GRCm39) I230T probably benign Het
Or12d16-ps1 T A 17: 37,706,377 (GRCm39) N315K probably benign Het
Or7g30 A G 9: 19,352,295 (GRCm39) T29A probably benign Het
Pdss1 T C 2: 22,805,517 (GRCm39) I265T probably damaging Het
Piezo2 T C 18: 63,257,801 (GRCm39) probably null Het
Rad50 T A 11: 53,592,832 (GRCm39) N106I probably benign Het
Rhpn2 A G 7: 35,090,270 (GRCm39) T631A probably benign Het
Rps11 T C 7: 44,772,368 (GRCm39) M80V probably benign Het
Rrm1 T C 7: 102,097,031 (GRCm39) Y104H probably benign Het
Sgsm3 T A 15: 80,894,502 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,365,154 (GRCm39) L162F probably benign Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Stk24 A G 14: 121,529,494 (GRCm39) L386S probably benign Het
Trbv21 T A 6: 41,179,702 (GRCm39) V6D probably benign Het
Trip11 A T 12: 101,860,027 (GRCm39) D282E probably damaging Het
Ttn G T 2: 76,706,811 (GRCm39) probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r38 A G 7: 9,100,562 (GRCm39) probably null Het
Vps8 T A 16: 21,314,664 (GRCm39) L158Q 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
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
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'- TGGTCTCTACTATACCTCAAGGC -3'
(R):5'- CCTTCCCCTGAAGTTACTGAG -3'

Sequencing Primer
(F):5'- TGGTCCCTAGTACACCTCCAGG -3'
(R):5'- CCCCTGAAGTTACTGAGTTAATTAGC -3'
Posted On 2015-06-20