Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Ctcfl'

379263

Institutional Source

Beutler Lab

Gene Symbol

Ctcfl

Ensembl Gene

ENSMUSG00000070495

Gene Name

CCCTC-binding factor like

Synonyms

Boris, OTTMUSG00000016680

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

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

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172935402-172961318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172937191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 576 (A576T)

Ref Sequence

ENSEMBL: ENSMUSP00000135932 (fasta)

Gene Model

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

AlphaFold

A2APF3

Predicted Effect

probably benign
Transcript: ENSMUST00000094287
AA Change: A576T

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: A576T

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: A576T

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: A576T

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

Meta Mutation Damage Score

0.0980

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C1ra	A	G	6: 124,499,293 (GRCm39)	D493G	probably damaging	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,007,342 (GRCm39)	H453L	probably damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or10j2	A	T	1: 173,098,546 (GRCm39)	D268V	probably damaging	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Ppfia4	A	T	1: 134,260,239 (GRCm39)	I8N	probably damaging	Het
Pprc1	A	G	19: 46,052,758 (GRCm39)	T759A	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	probably damaging	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
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'- ATCTCACTGACTCTCTGGCTGG -3'
(R):5'- ACACATGCAGAGCTCAGAG -3'

Sequencing Primer
(F):5'- ACTCTCTGGCTGGGGTTAACAG -3'
(R):5'- TCAGAGCAGGACTTACCGG -3'

Posted On

2016-04-15