Incidental Mutation 'IGL00799:Ctcf'
ID 9920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctcf
Ensembl Gene ENSMUSG00000005698
Gene Name CCCTC-binding factor
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00799
Quality Score
Status
Chromosome 8
Chromosomal Location 106363200-106409554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106403968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 608 (D608G)
Ref Sequence ENSEMBL: ENSMUSP00000005841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005841]
AlphaFold Q61164
Predicted Effect unknown
Transcript: ENSMUST00000005841
AA Change: D608G
SMART Domains Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: D608G

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: ENSMUST00000132679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156436
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 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A T 4: 144,281,843 (GRCm39) H316Q probably benign Het
Boc G T 16: 44,313,318 (GRCm39) D515E probably benign Het
Cenpe T A 3: 134,934,678 (GRCm39) probably null Het
Dab2ip A G 2: 35,597,787 (GRCm39) I99V probably benign Het
Ecpas T A 4: 58,828,047 (GRCm39) I981F possibly damaging Het
Ehd2 C T 7: 15,697,392 (GRCm39) A139T possibly damaging Het
Fam151b C A 13: 92,614,361 (GRCm39) K42N probably damaging Het
Gapvd1 A T 2: 34,589,872 (GRCm39) D1002E probably benign Het
Gusb T C 5: 130,028,222 (GRCm39) Y290C probably damaging Het
Hoxd10 A G 2: 74,522,786 (GRCm39) S155G probably benign Het
Hp A G 8: 110,302,250 (GRCm39) probably null Het
Ift122 T C 6: 115,854,497 (GRCm39) S112P probably damaging Het
Iqgap2 A G 13: 95,794,452 (GRCm39) probably benign Het
Mtbp T A 15: 55,480,904 (GRCm39) L290* probably null Het
Nr5a2 T A 1: 136,818,536 (GRCm39) D330V probably damaging Het
R3hdm1 T A 1: 128,102,700 (GRCm39) L157Q probably damaging Het
Rad21 A T 15: 51,839,521 (GRCm39) D116E possibly damaging Het
Slc23a3 A T 1: 75,109,925 (GRCm39) I114N possibly damaging Het
Syne1 A G 10: 5,347,878 (GRCm38) I1140L probably benign Het
Other mutations in Ctcf
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6392:Ctcf UTSW 8 106,390,765 (GRCm39) missense probably damaging 0.97
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
Posted On 2012-12-06