Incidental Mutation 'R7180:Ctcfl'
ID 568512
Institutional Source Beutler Lab
Gene Symbol Ctcfl
Ensembl Gene ENSMUSG00000070495
Gene Name CCCTC-binding factor like
Synonyms Boris, OTTMUSG00000016680
MMRRC Submission 045233-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.302) question?
Stock # R7180 (G1)
Quality Score 168.009
Status Validated
Chromosome 2
Chromosomal Location 172935402-172961318 bp(-) (GRCm39)
Type of Mutation splice site (55 bp from exon)
DNA Base Change (assembly) A to T at 172947770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094287] [ENSMUST00000179693]
AlphaFold A2APF3
Predicted Effect probably null
Transcript: ENSMUST00000094287
SMART Domains Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495

DomainStartEndE-ValueType
low complexity region 194 202 N/A INTRINSIC
ZnF_C2H2 257 279 1.79e-2 SMART
ZnF_C2H2 285 307 1.07e0 SMART
ZnF_C2H2 313 336 4.47e-3 SMART
ZnF_C2H2 342 364 1.79e-2 SMART
ZnF_C2H2 370 392 5.81e-2 SMART
ZnF_C2H2 398 421 1.36e-2 SMART
ZnF_C2H2 428 451 6.23e-2 SMART
ZnF_C2H2 458 480 1.89e-1 SMART
ZnF_C2H2 486 508 8.94e-3 SMART
ZnF_C2H2 514 537 2.32e-1 SMART
ZnF_C2H2 546 572 5.2e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000179693
SMART Domains Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495

DomainStartEndE-ValueType
low complexity region 194 202 N/A INTRINSIC
ZnF_C2H2 257 279 1.79e-2 SMART
ZnF_C2H2 285 307 1.07e0 SMART
ZnF_C2H2 313 336 4.47e-3 SMART
ZnF_C2H2 342 364 1.79e-2 SMART
ZnF_C2H2 370 392 5.81e-2 SMART
ZnF_C2H2 398 421 1.36e-2 SMART
ZnF_C2H2 428 451 6.23e-2 SMART
ZnF_C2H2 458 480 1.89e-1 SMART
ZnF_C2H2 486 508 8.94e-3 SMART
ZnF_C2H2 514 537 2.32e-1 SMART
ZnF_C2H2 546 572 5.2e0 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A C 4: 49,381,803 (GRCm39) Y196* probably null Het
Agrn C T 4: 156,256,296 (GRCm39) R1405H probably benign Het
Agtpbp1 G A 13: 59,613,852 (GRCm39) H1030Y probably benign Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Ap1g2 G C 14: 55,341,908 (GRCm39) P218R probably damaging Het
Ap2a1 C T 7: 44,573,228 (GRCm39) probably null Het
Apc2 T A 10: 80,146,990 (GRCm39) D681E possibly damaging Het
Arhgef5 T A 6: 43,252,142 (GRCm39) N964K possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
Ccnf T A 17: 24,442,889 (GRCm39) M773L probably benign Het
Ces1e A C 8: 93,941,772 (GRCm39) S234A probably damaging Het
Ces1g T A 8: 94,029,576 (GRCm39) E552V probably benign Het
Dkk2 T A 3: 131,791,953 (GRCm39) S54T probably damaging Het
Dll1 A G 17: 15,595,131 (GRCm39) S49P probably benign Het
Dscam C A 16: 96,626,764 (GRCm39) A382S probably damaging Het
Eif4a3l1 T A 6: 136,306,535 (GRCm39) I332N probably damaging Het
Eif5b A T 1: 38,088,155 (GRCm39) M1020L probably damaging Het
Elp1 A T 4: 56,796,535 (GRCm39) S118R probably damaging Het
Enpp4 T C 17: 44,412,928 (GRCm39) D202G probably benign Het
Eps8 A T 6: 137,456,072 (GRCm39) I803N possibly damaging Het
Etv2 C A 7: 30,335,074 (GRCm39) G28V probably damaging Het
Fadd A T 7: 144,134,522 (GRCm39) V121E probably damaging Het
Fam149b T C 14: 20,431,853 (GRCm39) Y545H probably benign Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Flg2 T C 3: 93,110,140 (GRCm39) S723P unknown Het
Gm4884 C T 7: 40,693,633 (GRCm39) T534I possibly damaging Het
Gpbar1 A T 1: 74,317,792 (GRCm39) I12F possibly damaging Het
Gpr151 A T 18: 42,712,021 (GRCm39) L219* probably null Het
Hdgfl2 T A 17: 56,404,532 (GRCm39) probably null Het
Hectd4 A G 5: 121,446,405 (GRCm39) M200V probably benign Het
Idua A G 5: 108,828,761 (GRCm39) N335S probably benign Het
Ifit1bl1 A T 19: 34,571,302 (GRCm39) F385Y probably damaging Het
Ift172 T C 5: 31,411,606 (GRCm39) D1624G probably damaging Het
Igsf9b A T 9: 27,233,964 (GRCm39) T388S possibly damaging Het
Insyn2b A G 11: 34,369,873 (GRCm39) K526E probably damaging Het
Jak2 A G 19: 29,259,811 (GRCm39) I237V probably benign Het
Kat5 C A 19: 5,653,989 (GRCm39) K398N probably damaging Het
Lmbrd2 T A 15: 9,175,283 (GRCm39) V398E possibly damaging Het
Lrp1 T C 10: 127,392,834 (GRCm39) N2744D probably damaging Het
Lrrd1 T C 5: 3,901,459 (GRCm39) I588T probably damaging Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Magi1 T A 6: 93,792,731 (GRCm39) D169V probably benign Het
Mpdz T C 4: 81,253,988 (GRCm39) E1048G probably damaging Het
Myh9 T C 15: 77,692,110 (GRCm39) I150V probably benign Het
Nckap1 A T 2: 80,337,236 (GRCm39) M1006K probably benign Het
Nkain1 C T 4: 130,533,925 (GRCm38) V132I probably benign Het
Npy6r A T 18: 44,409,223 (GRCm39) M215L probably benign Het
Nr3c2 A T 8: 77,635,592 (GRCm39) Q231L probably damaging Het
Obox5 C T 7: 15,491,849 (GRCm39) P88L probably benign Het
Or10a48 A G 7: 108,425,186 (GRCm39) S7P probably damaging Het
Or9k7 T C 10: 130,046,811 (GRCm39) T63A probably benign Het
P2rx7 A G 5: 122,818,883 (GRCm39) D435G possibly damaging Het
Pdzd2 T A 15: 12,376,209 (GRCm39) S1309C probably damaging Het
Pex5l C T 3: 33,078,840 (GRCm39) probably null Het
Pip T A 6: 41,824,565 (GRCm39) C18S probably damaging Het
Pla2g7 C T 17: 43,909,967 (GRCm39) T157M probably damaging Het
Plce1 A G 19: 38,768,229 (GRCm39) Y2168C probably damaging Het
Rgs2 T C 1: 143,877,886 (GRCm39) T137A probably benign Het
Rpl32 T A 6: 115,784,768 (GRCm39) I31F possibly damaging Het
Ryr2 T C 13: 11,701,864 (GRCm39) Y2931C probably damaging Het
Slc4a4 G A 5: 89,194,095 (GRCm39) E192K probably damaging Het
Slc4a7 G A 14: 14,765,580 (GRCm38) A521T probably damaging Het
Smchd1 T C 17: 71,701,818 (GRCm39) E1058G probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssc5d A G 7: 4,939,600 (GRCm39) T679A probably benign Het
Tas2r130 A C 6: 131,607,211 (GRCm39) S195A probably benign Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Terf2ip G T 8: 112,738,052 (GRCm39) probably benign Het
Tm6sf2 G A 8: 70,528,656 (GRCm39) R136K probably benign Het
Tmprss15 A G 16: 78,764,886 (GRCm39) L858P probably damaging Het
Topaz1 A G 9: 122,626,770 (GRCm39) D1466G possibly damaging Het
Trip4 A T 9: 65,764,627 (GRCm39) L446Q probably damaging Het
Trpv3 G T 11: 73,168,818 (GRCm39) V93L probably benign Het
Ubl4b A T 3: 107,461,962 (GRCm39) H99Q probably damaging Het
Unc45a A T 7: 79,979,569 (GRCm39) probably null Het
Vmn1r47 G T 6: 89,999,335 (GRCm39) A156S probably damaging Het
Vmn2r33 T A 7: 7,566,896 (GRCm39) H72L probably benign Het
Zeb1 G A 18: 5,767,867 (GRCm39) V793M possibly damaging Het
Zfp628 C A 7: 4,924,063 (GRCm39) Q762K probably benign Het
Other mutations in Ctcfl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Ctcfl APN 2 172,936,527 (GRCm39) missense possibly damaging 0.82
IGL01418:Ctcfl APN 2 172,960,124 (GRCm39) missense probably benign 0.03
IGL01524:Ctcfl APN 2 172,959,177 (GRCm39) missense probably benign 0.08
IGL02610:Ctcfl APN 2 172,947,819 (GRCm39) splice site probably benign
IGL02961:Ctcfl APN 2 172,943,712 (GRCm39) missense possibly damaging 0.70
BB001:Ctcfl UTSW 2 172,955,449 (GRCm39) missense possibly damaging 0.71
BB011:Ctcfl UTSW 2 172,955,449 (GRCm39) missense possibly damaging 0.71
R0147:Ctcfl UTSW 2 172,960,340 (GRCm39) missense possibly damaging 0.75
R0148:Ctcfl UTSW 2 172,960,340 (GRCm39) missense possibly damaging 0.75
R0362:Ctcfl UTSW 2 172,960,236 (GRCm39) missense probably damaging 0.99
R1099:Ctcfl UTSW 2 172,954,153 (GRCm39) missense probably damaging 1.00
R1540:Ctcfl UTSW 2 172,954,141 (GRCm39) missense probably benign 0.36
R1892:Ctcfl UTSW 2 172,960,478 (GRCm39) missense probably benign 0.24
R2036:Ctcfl UTSW 2 172,943,778 (GRCm39) missense possibly damaging 0.95
R2060:Ctcfl UTSW 2 172,960,299 (GRCm39) missense probably benign 0.00
R2925:Ctcfl UTSW 2 172,936,489 (GRCm39) missense probably damaging 1.00
R4327:Ctcfl UTSW 2 172,955,299 (GRCm39) intron probably benign
R4837:Ctcfl UTSW 2 172,955,449 (GRCm39) missense probably benign 0.00
R4894:Ctcfl UTSW 2 172,959,196 (GRCm39) missense probably benign 0.19
R4909:Ctcfl UTSW 2 172,937,191 (GRCm39) missense probably benign 0.42
R5128:Ctcfl UTSW 2 172,959,189 (GRCm39) missense probably benign 0.00
R5247:Ctcfl UTSW 2 172,955,402 (GRCm39) missense probably damaging 1.00
R6263:Ctcfl UTSW 2 172,937,130 (GRCm39) missense probably benign 0.00
R6768:Ctcfl UTSW 2 172,959,084 (GRCm39) missense possibly damaging 0.84
R7045:Ctcfl UTSW 2 172,954,167 (GRCm39) missense probably damaging 1.00
R7256:Ctcfl UTSW 2 172,960,268 (GRCm39) missense probably benign 0.01
R7268:Ctcfl UTSW 2 172,949,588 (GRCm39) missense probably benign 0.26
R7378:Ctcfl UTSW 2 172,954,051 (GRCm39) missense probably damaging 1.00
R7560:Ctcfl UTSW 2 172,960,199 (GRCm39) missense probably damaging 0.96
R7657:Ctcfl UTSW 2 172,955,449 (GRCm39) missense possibly damaging 0.71
R7733:Ctcfl UTSW 2 172,958,985 (GRCm39) missense probably benign
R7924:Ctcfl UTSW 2 172,955,449 (GRCm39) missense possibly damaging 0.71
R7945:Ctcfl UTSW 2 172,960,451 (GRCm39) missense probably benign
R8022:Ctcfl UTSW 2 172,960,559 (GRCm39) missense probably benign 0.15
R8038:Ctcfl UTSW 2 172,943,698 (GRCm39) missense probably damaging 1.00
R8911:Ctcfl UTSW 2 172,937,121 (GRCm39) critical splice donor site probably null
R9031:Ctcfl UTSW 2 172,959,044 (GRCm39) missense probably benign 0.07
R9358:Ctcfl UTSW 2 172,960,581 (GRCm39) start codon destroyed possibly damaging 0.81
R9401:Ctcfl UTSW 2 172,947,881 (GRCm39) missense probably damaging 0.99
R9490:Ctcfl UTSW 2 172,960,548 (GRCm39) missense probably benign 0.00
Z1088:Ctcfl UTSW 2 172,960,137 (GRCm39) missense probably benign 0.01
Z1177:Ctcfl UTSW 2 172,943,829 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGGACTCTTAGCGCTCCCTAG -3'
(R):5'- GATGAAGTGCCGATACTGTCCC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TCCCGCTGGCTTCCATGAG -3'
Posted On 2019-08-15