Mutagenetix > Incidental Mutation

Incidental Mutation 'R5106:Ctcf'

392633

Institutional Source

Beutler Lab

Gene Symbol

Ctcf

Ensembl Gene

ENSMUSG00000005698

Gene Name

CCCTC-binding factor

Synonyms

MMRRC Submission

042694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5106 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

106363200-106409554 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 106408130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005841] [ENSMUST00000213019]

AlphaFold

Q61164

Predicted Effect

unknown
Transcript: ENSMUST00000005841
AA Change: V697A

SMART Domains

Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: V697A

Domain	Start	End	E-Value	Type
low complexity region	116	131	N/A	INTRINSIC
low complexity region	202	211	N/A	INTRINSIC
low complexity region	250	264	N/A	INTRINSIC
ZnF_C2H2	266	288	1.22e-4	SMART
ZnF_C2H2	294	316	7.26e-3	SMART
ZnF_C2H2	322	345	6.88e-4	SMART
ZnF_C2H2	351	373	5.14e-3	SMART
ZnF_C2H2	379	401	2.09e-3	SMART
ZnF_C2H2	407	430	2.02e-1	SMART
ZnF_C2H2	437	460	9.44e-2	SMART
ZnF_C2H2	467	489	7.67e-2	SMART
ZnF_C2H2	495	517	3.34e-2	SMART
ZnF_C2H2	523	546	2.53e-2	SMART
ZnF_C2H2	555	575	1.23e1	SMART
low complexity region	592	657	N/A	INTRINSIC
low complexity region	700	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156436

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Meta Mutation Damage Score

0.0757

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null allele die prior at implantation. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf2	G	A	11: 43,376,880 (GRCm39)	R84Q	possibly damaging	Het
Carmil2	T	A	8: 106,420,638 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,416,005 (GRCm39)	C107S	probably benign	Het
Cideb	T	C	14: 55,991,982 (GRCm39)	M191V	probably benign	Het
Cope	C	A	8: 70,763,097 (GRCm39)	R213S	possibly damaging	Het
Daam2	T	C	17: 49,783,489 (GRCm39)	Y647C	probably damaging	Het
Dlg2	T	C	7: 92,091,894 (GRCm39)	Y920H	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fdps	C	A	3: 89,006,710 (GRCm39)	R127L	probably damaging	Het
G6pd2	C	T	5: 61,967,695 (GRCm39)	T490I	probably benign	Het
Gm6401	A	G	14: 41,787,463 (GRCm39)	M121T	probably damaging	Het
Gnl2	T	C	4: 124,947,329 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf2a1l	A	G	17: 89,002,073 (GRCm39)	S310G	possibly damaging	Het
Igdcc4	T	C	9: 65,031,983 (GRCm39)	F500L	probably damaging	Het
Lgr4	A	T	2: 109,827,940 (GRCm39)	H207L	probably damaging	Het
Llcfc1	A	G	6: 41,662,310 (GRCm39)	M105V	probably benign	Het
Macroh2a1	A	G	13: 56,236,106 (GRCm39)	V213A	possibly damaging	Het
Map2k3	A	G	11: 60,832,708 (GRCm39)	K18E	probably damaging	Het
Mccc1	T	A	3: 36,026,713 (GRCm39)	D528V	probably benign	Het
Nedd4l	C	T	18: 65,326,376 (GRCm39)	T568M	probably damaging	Het
Nr3c1	A	C	18: 39,619,654 (GRCm39)	I211S	possibly damaging	Het
Nudt5	C	T	2: 5,859,640 (GRCm39)		probably benign	Het
Or2ag20	T	A	7: 106,464,595 (GRCm39)	M136K	probably damaging	Het
Or5d46	T	C	2: 88,170,454 (GRCm39)	Y182H	probably benign	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or9k2b	A	T	10: 130,016,177 (GRCm39)	S191T	probably benign	Het
Pcid2	A	T	8: 13,129,648 (GRCm39)	F326I	probably damaging	Het
Pcnt	A	T	10: 76,237,278 (GRCm39)	I1336N	probably damaging	Het
Pomk	T	C	8: 26,476,404 (GRCm39)	D50G	probably benign	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Ptprz1	A	G	6: 23,000,027 (GRCm39)	T706A	probably benign	Het
Rad54l	G	A	4: 115,956,961 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,572,459 (GRCm39)	D36G	probably damaging	Het
Rgs7	A	G	1: 174,904,416 (GRCm39)	S166P	possibly damaging	Het
Rnf183	C	G	4: 62,346,465 (GRCm39)	R111P	probably damaging	Het
Rp1l1	A	T	14: 64,265,395 (GRCm39)	D327V	probably damaging	Het
Rpl3l	A	G	17: 24,951,411 (GRCm39)	Y156C	probably damaging	Het
Slc25a54	G	T	3: 109,020,180 (GRCm39)	C398F	probably benign	Het
Slc39a2	A	G	14: 52,132,988 (GRCm39)	*310W	probably null	Het
Slit3	T	C	11: 35,503,194 (GRCm39)	C464R	probably damaging	Het
Smu1	A	T	4: 40,743,104 (GRCm39)	F345I	possibly damaging	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stxbp3	T	C	3: 108,702,243 (GRCm39)	Y521C	probably benign	Het
Tenm4	T	C	7: 96,492,356 (GRCm39)	S1061P	probably damaging	Het
Thoc5	T	C	11: 4,860,630 (GRCm39)	S103P	probably damaging	Het
Tmem221	A	G	8: 72,008,522 (GRCm39)	F173L	probably benign	Het
Trit1	T	C	4: 122,948,106 (GRCm39)		probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,395 (GRCm39)		probably null	Het
Vmn2r38	C	A	7: 9,078,169 (GRCm39)	V738L	possibly damaging	Het
Zfp160	T	A	17: 21,247,023 (GRCm39)	H524Q	probably damaging	Het
Zfp791	T	A	8: 85,837,259 (GRCm39)	K202*	probably null	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	probably damaging	Het
Zkscan7	T	C	9: 122,725,198 (GRCm39)		probably benign	Het
Zwilch	A	C	9: 64,060,866 (GRCm39)	F329V	probably damaging	Het

Other mutations in Ctcf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Ctcf	APN	8	106,403,968 (GRCm39)	missense	unknown
IGL01068:Ctcf	APN	8	106,408,117 (GRCm39)	unclassified	probably benign
IGL01936:Ctcf	APN	8	106,396,864 (GRCm39)	missense	probably benign	0.21
IGL02010:Ctcf	APN	8	106,391,597 (GRCm39)	missense	probably damaging	1.00
IGL02545:Ctcf	APN	8	106,391,013 (GRCm39)	missense	probably benign	0.39
IGL02617:Ctcf	APN	8	106,403,842 (GRCm39)	splice site	probably benign
R0255:Ctcf	UTSW	8	106,390,671 (GRCm39)	missense	possibly damaging	0.76
R0348:Ctcf	UTSW	8	106,402,789 (GRCm39)	nonsense	probably null
R0497:Ctcf	UTSW	8	106,401,672 (GRCm39)	splice site	probably benign
R1238:Ctcf	UTSW	8	106,397,909 (GRCm39)	splice site	probably benign
R1903:Ctcf	UTSW	8	106,402,620 (GRCm39)	splice site	probably null
R2508:Ctcf	UTSW	8	106,398,016 (GRCm39)	missense	probably damaging	1.00
R4035:Ctcf	UTSW	8	106,390,789 (GRCm39)	missense	possibly damaging	0.52
R4448:Ctcf	UTSW	8	106,406,925 (GRCm39)	intron	probably benign
R6370:Ctcf	UTSW	8	106,390,852 (GRCm39)	missense	probably benign	0.05
R6378:Ctcf	UTSW	8	106,390,423 (GRCm39)	missense	possibly damaging	0.70
R6392:Ctcf	UTSW	8	106,390,765 (GRCm39)	missense	probably damaging	0.97
R6737:Ctcf	UTSW	8	106,391,140 (GRCm39)	missense	probably benign	0.02
R7725:Ctcf	UTSW	8	106,390,468 (GRCm39)	missense	probably damaging	1.00
R7791:Ctcf	UTSW	8	106,391,571 (GRCm39)	missense	possibly damaging	0.47
R7895:Ctcf	UTSW	8	106,390,690 (GRCm39)	missense	possibly damaging	0.95
R8396:Ctcf	UTSW	8	106,393,379 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATCACTGCTGAGGCTTTCTTG -3'
(R):5'- TGCCGTTCCCAAAGCCAAAG -3'

Sequencing Primer
(F):5'- GAGGCTTTCTTGTTGCTGCATCC -3'
(R):5'- TTAAGATTTGGGCCGTTTAAACACAG -3'

Posted On

2016-06-15