Incidental Mutation 'R0148:Ctcfl'
ID 60858
Institutional Source Beutler Lab
Gene Symbol Ctcfl
Ensembl Gene ENSMUSG00000070495
Gene Name CCCTC-binding factor like
Synonyms Boris, OTTMUSG00000016680
MMRRC Submission 038432-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.302) question?
Stock # R0148 (G1)
Quality Score 178
Status Not validated
Chromosome 2
Chromosomal Location 172935402-172961318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172960340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 81 (D81G)
Ref Sequence ENSEMBL: ENSMUSP00000135932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094287] [ENSMUST00000179693]
AlphaFold A2APF3
Predicted Effect possibly damaging
Transcript: ENSMUST00000094287
AA Change: D81G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: D81G

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 noncoding transcript
Transcript: ENSMUST00000142165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144256
Predicted Effect possibly damaging
Transcript: ENSMUST00000179693
AA Change: D81G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: D81G

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 86% (30/35)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Agtr1a T C 13: 30,565,927 (GRCm39) S331P probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Bahcc1 A T 11: 120,159,230 (GRCm39) Q152H probably damaging Het
Bend3 T A 10: 43,387,946 (GRCm39) Y780N probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Efl1 T C 7: 82,320,878 (GRCm39) S104P probably damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fbln1 G A 15: 85,115,027 (GRCm39) R193H probably damaging Het
Fbxw21 A G 9: 108,977,085 (GRCm39) probably null Het
Fgf17 C T 14: 70,876,313 (GRCm39) R49Q probably damaging Het
Flnb T C 14: 7,939,077 (GRCm38) S2307P probably benign Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Git1 A G 11: 77,396,554 (GRCm39) T601A probably benign Het
Gm10722 T "C,A" 9: 3,001,405 (GRCm39) probably null Het
Gm5142 C T 14: 59,416,119 (GRCm39) R13H possibly damaging Het
Gria2 A C 3: 80,615,038 (GRCm39) W481G probably damaging Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Il4ra T A 7: 125,174,709 (GRCm39) C306S probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Lama3 G A 18: 12,581,329 (GRCm39) C596Y probably damaging Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Marchf6 C T 15: 31,490,758 (GRCm39) V293M probably damaging Het
Med12l A G 3: 58,945,075 (GRCm39) D100G probably damaging Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mrpl53 T C 6: 83,086,518 (GRCm39) L74P probably damaging Het
Mvp C T 7: 126,589,037 (GRCm39) V577M probably damaging Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nipsnap3b C T 4: 53,017,088 (GRCm39) A104V possibly damaging Het
Nlrp14 A G 7: 106,781,928 (GRCm39) Y375C probably benign Het
Nod1 A G 6: 54,915,202 (GRCm39) Y764H probably damaging Het
Or13d1 A T 4: 52,971,232 (GRCm39) I204F probably benign Het
Or2w25 G A 11: 59,504,320 (GRCm39) V177M probably damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Peg10 C A 6: 4,755,711 (GRCm39) R96S possibly damaging Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rilp A T 11: 75,401,059 (GRCm39) H29L probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Ryr1 C A 7: 28,751,460 (GRCm39) R3706L probably damaging Het
Ryr2 T C 13: 11,729,434 (GRCm39) D2396G probably damaging Het
Slc45a2 T C 15: 11,025,954 (GRCm39) S435P probably damaging Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tep1 A T 14: 51,062,246 (GRCm39) D2535E possibly damaging Het
Tkt T A 14: 30,294,177 (GRCm39) I529N probably damaging Het
Trp53i11 T G 2: 93,028,080 (GRCm39) V39G probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Usp3 A G 9: 66,447,449 (GRCm39) V219A possibly damaging Het
Usp4 T A 9: 108,268,870 (GRCm39) probably null Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Xkr6 T C 14: 64,056,998 (GRCm39) V303A unknown Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfhx2 A G 14: 55,310,354 (GRCm39) Y731H possibly damaging 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
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
R7180:Ctcfl UTSW 2 172,947,770 (GRCm39) splice site probably null
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'- TCACGCAATGCTGAAGGCTGAG -3'
(R):5'- TCTGCACCCCATAAAGATTGCACG -3'

Sequencing Primer
(F):5'- CTGAAGGCTGAGCTGGG -3'
(R):5'- TGGGTACTTCACCCAGATCAAAG -3'
Posted On 2013-07-24