Incidental Mutation 'IGL01936:Ctcf'
ID180673
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctcf
Ensembl Gene ENSMUSG00000005698
Gene NameCCCTC-binding factor
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01936
Quality Score
Status
Chromosome8
Chromosomal Location105636568-105682922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105670232 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 363 (V363A)
Ref Sequence ENSEMBL: ENSMUSP00000005841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005841]
Predicted Effect probably benign
Transcript: ENSMUST00000005841
AA Change: V363A

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: V363A

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 L926F probably damaging Het
Asgr2 A T 11: 70,098,051 probably null Het
C3ar1 T A 6: 122,851,235 T8S probably benign Het
Caskin2 T C 11: 115,804,717 I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 probably null Het
Cfap45 T G 1: 172,534,049 M231R probably damaging Het
Clcn7 A C 17: 25,155,376 N464H probably benign Het
Col20a1 T A 2: 181,009,368 probably benign Het
Col7a1 T A 9: 108,967,999 probably benign Het
Cops7a T C 6: 124,962,416 D90G probably benign Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Dcaf1 T A 9: 106,859,601 F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 E1009* probably null Het
Epg5 C A 18: 77,985,101 R1286S probably damaging Het
Etv1 T C 12: 38,835,061 probably benign Het
Exosc7 T C 9: 123,135,891 probably benign Het
Fam227a T C 15: 79,612,546 D610G possibly damaging Het
Fat4 T A 3: 38,979,774 M2525K probably benign Het
Gimap5 G T 6: 48,753,065 A190S probably damaging Het
Glcci1 T A 6: 8,579,596 S79T probably damaging Het
Gm10093 T C 17: 78,492,129 V183A probably damaging Het
Gpnmb C T 6: 49,047,450 T233I probably null Het
Hyls1 T C 9: 35,562,067 I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 Y107C probably damaging Het
Il20ra T A 10: 19,755,843 V264D probably damaging Het
Jph1 A T 1: 17,097,384 V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 V813E probably damaging Het
Kntc1 T A 5: 123,811,376 F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 R241W probably damaging Het
Lgr5 T C 10: 115,452,414 N703S probably damaging Het
Map4k1 A T 7: 28,988,607 M227L possibly damaging Het
Mbnl1 T A 3: 60,613,519 M268K possibly damaging Het
Mcm2 C A 6: 88,891,726 G350C probably damaging Het
Myh2 A T 11: 67,191,773 T1390S possibly damaging Het
Npat T A 9: 53,558,226 probably benign Het
Nr2e1 T A 10: 42,567,973 D251V possibly damaging Het
Olfr1425 C T 19: 12,074,057 V192I probably benign Het
Olfr1461 C A 19: 13,165,403 P130T probably damaging Het
Olfr54 A G 11: 51,027,335 N111S probably benign Het
Plekha5 T A 6: 140,524,895 H87Q probably damaging Het
Polr3a A G 14: 24,479,188 V368A probably damaging Het
Psmb8 T A 17: 34,200,194 L154Q probably damaging Het
Rab40c A C 17: 25,884,670 C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 T183I probably benign Het
Ruvbl2 T C 7: 45,428,698 E117G probably damaging Het
Serpinb3b T A 1: 107,154,638 M299L probably benign Het
Smpdl3a A G 10: 57,802,434 H111R probably damaging Het
Sspo C A 6: 48,475,887 P2843H probably damaging Het
Stk39 T C 2: 68,314,564 T389A probably benign Het
Synrg T A 11: 84,019,705 F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 S229N probably benign Het
Thsd1 G A 8: 22,252,231 C305Y probably damaging Het
Ticrr C A 7: 79,694,549 D1387E probably benign Het
Tmem145 G T 7: 25,311,391 A383S probably damaging Het
Tmprss4 A G 9: 45,179,420 V187A probably damaging Het
Unc13c T A 9: 73,693,242 M1407L probably benign Het
Vps39 C T 2: 120,323,128 G655D probably benign Het
Wwtr1 T C 3: 57,574,820 probably benign Het
Xrn1 T C 9: 96,048,344 S1535P probably damaging Het
Other mutations in Ctcf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Ctcf APN 8 105677336 missense unknown
IGL01068:Ctcf APN 8 105681485 unclassified probably benign
IGL02010:Ctcf APN 8 105664965 missense probably damaging 1.00
IGL02545:Ctcf APN 8 105664381 missense probably benign 0.39
IGL02617:Ctcf APN 8 105677210 splice site probably benign
R0255:Ctcf UTSW 8 105664039 missense possibly damaging 0.76
R0348:Ctcf UTSW 8 105676157 nonsense probably null
R0497:Ctcf UTSW 8 105675040 splice site probably benign
R1238:Ctcf UTSW 8 105671277 splice site probably benign
R1903:Ctcf UTSW 8 105675988 splice site probably null
R2508:Ctcf UTSW 8 105671384 missense probably damaging 1.00
R4035:Ctcf UTSW 8 105664157 missense possibly damaging 0.52
R4448:Ctcf UTSW 8 105680293 intron probably benign
R5106:Ctcf UTSW 8 105681498 unclassified probably benign
R6370:Ctcf UTSW 8 105664220 missense probably benign 0.05
R6378:Ctcf UTSW 8 105663791 missense possibly damaging 0.70
R6392:Ctcf UTSW 8 105664133 missense probably damaging 0.97
R6737:Ctcf UTSW 8 105664508 missense probably benign 0.02
R7725:Ctcf UTSW 8 105663836 missense probably damaging 1.00
Posted On2014-05-07