Incidental Mutation 'IGL02961:Ctcfl'
ID 365334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctcfl
Ensembl Gene ENSMUSG00000070495
Gene Name CCCTC-binding factor like
Synonyms Boris, OTTMUSG00000016680
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.302) question?
Stock # IGL02961
Quality Score
Status
Chromosome 2
Chromosomal Location 172935402-172961318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172943712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 546 (H546L)
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: H546L

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: H546L

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 possibly damaging
Transcript: ENSMUST00000179693
AA Change: H546L

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: H546L

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
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,671,731 (GRCm39) V2288A probably damaging Het
Agbl4 T A 4: 110,437,318 (GRCm39) N76K probably damaging Het
AI182371 A T 2: 34,976,124 (GRCm39) V258E possibly damaging Het
Alg1 T A 16: 5,052,861 (GRCm39) N80K probably benign Het
Ambra1 A G 2: 91,741,793 (GRCm39) M963V possibly damaging Het
Avil C A 10: 126,844,175 (GRCm39) Q245K probably benign Het
Caml A G 13: 55,779,695 (GRCm39) N256S probably benign Het
Ccdc102a A C 8: 95,629,978 (GRCm39) I521S possibly damaging Het
Ccm2l A G 2: 152,920,521 (GRCm39) T393A probably benign Het
Cdh16 A G 8: 105,341,837 (GRCm39) V91A probably damaging Het
Chd7 A G 4: 8,751,542 (GRCm39) D13G probably damaging Het
Chsy1 T A 7: 65,821,530 (GRCm39) D588E probably benign Het
Cilp T A 9: 65,185,891 (GRCm39) V662E possibly damaging Het
Cog8 A G 8: 107,782,885 (GRCm39) probably benign Het
Cpb2 T C 14: 75,502,823 (GRCm39) V134A probably benign Het
Dclre1c A G 2: 3,438,070 (GRCm39) D136G probably damaging Het
Dnah2 T A 11: 69,409,240 (GRCm39) E379D probably damaging Het
Extl3 A G 14: 65,294,408 (GRCm39) Y808H possibly damaging Het
Gm7247 T A 14: 51,602,812 (GRCm39) N49K probably damaging Het
Insr T C 8: 3,308,785 (GRCm39) I84V probably benign Het
Ipo7 C T 7: 109,646,223 (GRCm39) P541S probably benign Het
Kcnc3 T C 7: 44,240,916 (GRCm39) S203P probably damaging Het
Myo5a A G 9: 75,122,402 (GRCm39) D1732G probably benign Het
Or10q3 T A 19: 11,847,695 (GRCm39) N295I probably damaging Het
Or52d1 C A 7: 103,756,357 (GRCm39) Y290* probably null Het
Or5p68 T C 7: 107,945,334 (GRCm39) I285V probably benign Het
Or5w22 A G 2: 87,363,028 (GRCm39) Y217C probably damaging Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Pde3a T A 6: 141,405,426 (GRCm39) L426* probably null Het
Pkd1 T A 17: 24,797,089 (GRCm39) D8E possibly damaging Het
Polr3a A T 14: 24,517,108 (GRCm39) Y714* probably null Het
Pramel16 T C 4: 143,675,717 (GRCm39) T370A probably damaging Het
Prb1c A T 6: 132,338,371 (GRCm39) F282L unknown Het
Rasgrf1 T C 9: 89,863,702 (GRCm39) V556A possibly damaging Het
Rev3l T C 10: 39,703,941 (GRCm39) Y1996H possibly damaging Het
Rttn T C 18: 89,071,697 (GRCm39) L1248P probably damaging Het
Slc11a1 T C 1: 74,416,332 (GRCm39) L53P probably damaging Het
Slc22a27 T C 19: 7,903,886 (GRCm39) R84G probably damaging Het
Sptbn4 A G 7: 27,097,392 (GRCm39) L1302P probably damaging Het
Srm T C 4: 148,678,586 (GRCm39) V271A possibly damaging Het
Sycp2 A G 2: 178,022,655 (GRCm39) I492T probably benign Het
Tmprss13 A G 9: 45,256,301 (GRCm39) T472A probably damaging Het
Togaram1 A G 12: 65,013,484 (GRCm39) D245G probably damaging Het
Vmn1r184 A T 7: 25,967,075 (GRCm39) I274L probably benign Het
Vmn1r21 T C 6: 57,820,974 (GRCm39) M157V probably benign Het
Wdr90 C A 17: 26,067,649 (GRCm39) E1420* probably null Het
Zfp518a A T 19: 40,903,462 (GRCm39) R1130S 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
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
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
Posted On 2015-12-18