Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Ctcfl'

564249

Institutional Source

Beutler Lab

Gene Symbol

Ctcfl

Ensembl Gene

ENSMUSG00000070495

Gene Name

CCCTC-binding factor like

Synonyms

Boris, OTTMUSG00000016680

MMRRC Submission

045317-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172935402-172961318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 172960268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 105 (A105E)

Ref Sequence

ENSEMBL: ENSMUSP00000091845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094287] [ENSMUST00000179693]

AlphaFold

A2APF3

Predicted Effect

probably benign
Transcript: ENSMUST00000094287
AA Change: A105E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: A105E

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000179693
AA Change: A105E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: A105E

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,659,923 (GRCm39)	Y790H	probably damaging	Het
Bend3	A	C	10: 43,369,667 (GRCm39)	S7R	probably benign	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,431,997 (GRCm39)	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,288,851 (GRCm39)	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,490 (GRCm39)	S1406P	probably benign	Het
Cep290	A	G	10: 100,382,360 (GRCm39)	T208A	probably damaging	Het
Cep85l	A	C	10: 53,172,351 (GRCm39)	C569W	probably damaging	Het
Ces5a	G	A	8: 94,226,154 (GRCm39)	T527I	probably benign	Het
Clca3a2	T	A	3: 144,796,608 (GRCm39)	I200F	probably damaging	Het
Cmas	G	A	6: 142,716,312 (GRCm39)	D251N	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dctn6	A	T	8: 34,557,962 (GRCm39)	I170N	probably damaging	Het
Dnah2	T	C	11: 69,321,920 (GRCm39)	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,724,988 (GRCm39)	V465I	possibly damaging	Het
Dzip1	T	C	14: 119,123,058 (GRCm39)	T646A	probably benign	Het
Etv4	T	A	11: 101,675,151 (GRCm39)		probably null	Het
Exoc3l2	T	C	7: 19,218,628 (GRCm39)	V549A	unknown	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
Fry	T	G	5: 150,390,251 (GRCm39)	I179S		Het
Galntl5	A	G	5: 25,400,298 (GRCm39)	H109R	probably benign	Het
Garem1	C	A	18: 21,281,811 (GRCm39)	G182W	probably damaging	Het
Gm5916	A	T	9: 36,032,285 (GRCm39)	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,615,709 (GRCm39)	F271I	probably benign	Het
Hivep2	G	T	10: 14,004,845 (GRCm39)	S481I	probably benign	Het
Homez	T	A	14: 55,094,877 (GRCm39)	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,210,722 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,678,957 (GRCm39)	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,617,212 (GRCm39)		probably null	Het
Kif5b	A	G	18: 6,225,340 (GRCm39)	V230A	probably damaging	Het
Ldlr	T	A	9: 21,657,040 (GRCm39)	V719E	probably benign	Het
Lsm7	G	A	10: 80,689,565 (GRCm39)	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,710,988 (GRCm39)	D90E	probably benign	Het
Mmrn1	A	G	6: 60,953,098 (GRCm39)	K460E	probably damaging	Het
Myh10	A	C	11: 68,681,515 (GRCm39)	N1061H	probably damaging	Het
Nepn	A	G	10: 52,277,089 (GRCm39)	Q275R	probably benign	Het
Noc3l	A	T	19: 38,800,800 (GRCm39)	D227E	probably benign	Het
Nploc4	G	T	11: 120,319,376 (GRCm39)	S61R	probably benign	Het
Nr4a2	T	C	2: 57,002,381 (GRCm39)	Y24C	probably damaging	Het
Nup160	T	A	2: 90,553,699 (GRCm39)	I1143N	probably damaging	Het
Or14a256	G	T	7: 86,264,873 (GRCm39)	H327N	probably benign	Het
Or4a15	A	T	2: 89,192,838 (GRCm39)	Y312N	probably benign	Het
Or8c17	T	A	9: 38,180,004 (GRCm39)	M57K	probably damaging	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap1	A	T	1: 54,532,366 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,633 (GRCm39)	H229R	probably damaging	Het
Plcl1	A	G	1: 55,737,377 (GRCm39)	Q906R	probably benign	Het
Ppfia3	T	C	7: 44,991,167 (GRCm39)	N1018S	probably benign	Het
Pramel24	T	A	4: 143,452,849 (GRCm39)	D93E	probably benign	Het
Prkd1	A	G	12: 50,435,125 (GRCm39)	V534A	possibly damaging	Het
Pygm	A	T	19: 6,435,926 (GRCm39)	I126F	probably benign	Het
Rag1	T	C	2: 101,472,415 (GRCm39)	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 92,032,637 (GRCm39)	Q560*	probably null	Het
Rbp3	A	T	14: 33,684,540 (GRCm39)	I1190F	possibly damaging	Het
Reln	T	C	5: 22,183,921 (GRCm39)	K1693E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsph3a	A	G	17: 8,165,002 (GRCm39)	T121A	probably benign	Het
Rufy3	A	G	5: 88,762,806 (GRCm39)	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,502,591 (GRCm39)	Q3548*	probably null	Het
Sardh	A	T	2: 27,108,824 (GRCm39)	V637D	probably benign	Het
Spata16	T	C	3: 26,722,016 (GRCm39)	V179A	probably benign	Het
Spopfm2	T	C	3: 94,083,667 (GRCm39)	E48G	probably benign	Het
Tbc1d30	G	A	10: 121,124,870 (GRCm39)	T319I	probably damaging	Het
Tlr2	T	A	3: 83,744,913 (GRCm39)	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,109,237 (GRCm39)		probably null	Het
Vmn1r113	T	A	7: 20,521,370 (GRCm39)	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,434,036 (GRCm39)	Y210S	probably damaging	Het
Zbbx	A	T	3: 74,947,205 (GRCm39)	H670Q	probably benign	Het

Other mutations in Ctcfl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7180:Ctcfl	UTSW	2	172,947,770 (GRCm39)	splice site	probably null
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'- GCTGTGCTTTCGTCCAAGTC -3'
(R):5'- TGAAGCCTGGAGACCTAGAG -3'

Sequencing Primer
(F):5'- TCGTCCAAGTCTGGTGTTAAC -3'
(R):5'- TTGTCAAGGAGGTGGAGGCC -3'

Posted On

2019-06-26