Incidental Mutation 'R6392:Ctcf'
ID 515810
Institutional Source Beutler Lab
Gene Symbol Ctcf
Ensembl Gene ENSMUSG00000005698
Gene Name CCCTC-binding factor
Synonyms
MMRRC Submission 044541-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6392 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106363200-106409554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106390765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 124 (V124A)
Ref Sequence ENSEMBL: ENSMUSP00000005841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005841]
AlphaFold Q61164
Predicted Effect probably damaging
Transcript: ENSMUST00000005841
AA Change: V124A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: V124A

DomainStartEndE-ValueType
low complexity region 116 131 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
low complexity region 250 264 N/A INTRINSIC
ZnF_C2H2 266 288 1.22e-4 SMART
ZnF_C2H2 294 316 7.26e-3 SMART
ZnF_C2H2 322 345 6.88e-4 SMART
ZnF_C2H2 351 373 5.14e-3 SMART
ZnF_C2H2 379 401 2.09e-3 SMART
ZnF_C2H2 407 430 2.02e-1 SMART
ZnF_C2H2 437 460 9.44e-2 SMART
ZnF_C2H2 467 489 7.67e-2 SMART
ZnF_C2H2 495 517 3.34e-2 SMART
ZnF_C2H2 523 546 2.53e-2 SMART
ZnF_C2H2 555 575 1.23e1 SMART
low complexity region 592 657 N/A INTRINSIC
low complexity region 700 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132679
Meta Mutation Damage Score 0.1499 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.1%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele die prior at implantation. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,825,526 (GRCm39) I330F probably damaging Het
Abcc9 A G 6: 142,627,825 (GRCm39) S402P probably damaging Het
Ada A G 2: 163,570,137 (GRCm39) L292P probably damaging Het
Adam34l A T 8: 44,079,038 (GRCm39) N395K probably benign Het
Adra1d T C 2: 131,403,529 (GRCm39) D187G probably damaging Het
AI467606 C A 7: 126,691,717 (GRCm39) Y97* probably null Het
Arid2 A G 15: 96,259,483 (GRCm39) E245G probably damaging Het
Ccdc78 C G 17: 26,007,148 (GRCm39) Q213E probably damaging Het
Cntnap1 G T 11: 101,077,472 (GRCm39) D1045Y probably damaging Het
Cutc T C 19: 43,748,489 (GRCm39) S129P possibly damaging Het
Dhx36 T C 3: 62,401,790 (GRCm39) I308V probably benign Het
Disp2 T C 2: 118,621,230 (GRCm39) V654A probably damaging Het
Esm1 G A 13: 113,346,283 (GRCm39) probably benign Het
Extl1 C T 4: 134,091,945 (GRCm39) V303I probably benign Het
Ezh1 G T 11: 101,094,630 (GRCm39) D387E probably damaging Het
Fbf1 T A 11: 116,043,775 (GRCm39) probably null Het
Fbxl12 T C 9: 20,550,472 (GRCm39) H84R probably damaging Het
Fbxo6 C T 4: 148,230,462 (GRCm39) V267I probably benign Het
Helz G T 11: 107,493,167 (GRCm39) A197S possibly damaging Het
Ikbke T C 1: 131,202,883 (GRCm39) probably null Het
Kbtbd13 A G 9: 65,297,619 (GRCm39) F439S possibly damaging Het
Kif7 G A 7: 79,351,934 (GRCm39) R943W probably damaging Het
Lrp12 C T 15: 39,735,415 (GRCm39) C839Y probably damaging Het
Matr3 A G 18: 35,717,894 (GRCm39) D364G probably benign Het
Ncam1 T C 9: 49,434,875 (GRCm39) K624E probably damaging Het
Nup205 T C 6: 35,166,820 (GRCm39) S280P possibly damaging Het
Or4a66 A T 2: 88,531,011 (GRCm39) Y221N probably damaging Het
Or52a33 A C 7: 103,288,889 (GRCm39) C153G probably benign Het
Pira2 A T 7: 3,846,901 (GRCm39) S214T possibly damaging Het
Prss3b T C 6: 41,009,306 (GRCm39) Y176C probably damaging Het
Ptpn4 T A 1: 119,700,853 (GRCm39) I30F probably benign Het
Rnf144a T C 12: 26,360,779 (GRCm39) I253V possibly damaging Het
Sh3pxd2b T A 11: 32,373,302 (GRCm39) L823Q possibly damaging Het
Sh3rf3 A T 10: 58,842,898 (GRCm39) D288V probably damaging Het
Shprh T A 10: 11,054,485 (GRCm39) Y1031* probably null Het
Sidt1 T C 16: 44,111,657 (GRCm39) T173A possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Ssh3 C T 19: 4,315,399 (GRCm39) R309H probably benign Het
Tagap G T 17: 8,152,893 (GRCm39) G693W probably damaging Het
Tango2 T A 16: 18,119,403 (GRCm39) I143F probably damaging Het
Thsd7a T C 6: 12,468,928 (GRCm39) H550R probably damaging Het
Tmem131 T A 1: 36,920,423 (GRCm39) Q92H probably benign Het
Tnfrsf21 T C 17: 43,327,979 (GRCm39) L31P probably benign Het
Ttn A T 2: 76,730,487 (GRCm39) probably benign Het
Ubash3b T C 9: 40,926,268 (GRCm39) D493G probably damaging Het
Unc13a C T 8: 72,090,453 (GRCm39) G1411D possibly damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfc3h1 A T 10: 115,237,653 (GRCm39) R477S probably damaging Het
Zfp87 C T 13: 67,664,986 (GRCm39) R492K probably benign Het
Other mutations in Ctcf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Ctcf APN 8 106,403,968 (GRCm39) missense unknown
IGL01068:Ctcf APN 8 106,408,117 (GRCm39) unclassified probably benign
IGL01936:Ctcf APN 8 106,396,864 (GRCm39) missense probably benign 0.21
IGL02010:Ctcf APN 8 106,391,597 (GRCm39) missense probably damaging 1.00
IGL02545:Ctcf APN 8 106,391,013 (GRCm39) missense probably benign 0.39
IGL02617:Ctcf APN 8 106,403,842 (GRCm39) splice site probably benign
R0255:Ctcf UTSW 8 106,390,671 (GRCm39) missense possibly damaging 0.76
R0348:Ctcf UTSW 8 106,402,789 (GRCm39) nonsense probably null
R0497:Ctcf UTSW 8 106,401,672 (GRCm39) splice site probably benign
R1238:Ctcf UTSW 8 106,397,909 (GRCm39) splice site probably benign
R1903:Ctcf UTSW 8 106,402,620 (GRCm39) splice site probably null
R2508:Ctcf UTSW 8 106,398,016 (GRCm39) missense probably damaging 1.00
R4035:Ctcf UTSW 8 106,390,789 (GRCm39) missense possibly damaging 0.52
R4448:Ctcf UTSW 8 106,406,925 (GRCm39) intron probably benign
R5106:Ctcf UTSW 8 106,408,130 (GRCm39) unclassified probably benign
R6370:Ctcf UTSW 8 106,390,852 (GRCm39) missense probably benign 0.05
R6378:Ctcf UTSW 8 106,390,423 (GRCm39) missense possibly damaging 0.70
R6737:Ctcf UTSW 8 106,391,140 (GRCm39) missense probably benign 0.02
R7725:Ctcf UTSW 8 106,390,468 (GRCm39) missense probably damaging 1.00
R7791:Ctcf UTSW 8 106,391,571 (GRCm39) missense possibly damaging 0.47
R7895:Ctcf UTSW 8 106,390,690 (GRCm39) missense possibly damaging 0.95
R8396:Ctcf UTSW 8 106,393,379 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GGATGTCAACAGCAGTGTACAG -3'
(R):5'- AGCTAGAGTCTTCCTGAGGAGG -3'

Sequencing Primer
(F):5'- TGGAACAGCTGGATCCTACC -3'
(R):5'- TCCTGAGGAGGAAGCTCG -3'
Posted On 2018-05-04