Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Ctcf'

51717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctcf

Ensembl Gene

ENSMUSG00000005698

Gene Name

CCCTC-binding factor

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

106363200-106409554 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 106408117 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: I693F

SMART Domains

Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: I693F

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,153,599 (GRCm39)		probably benign	Het
Adgra1	A	G	7: 139,425,541 (GRCm39)	E18G	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,702,546 (GRCm39)	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,824,680 (GRCm39)	V853A	probably benign	Het
Bicral	T	C	17: 47,136,317 (GRCm39)	I298V	probably damaging	Het
Cad	A	G	5: 31,219,114 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,768,744 (GRCm39)	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,439,098 (GRCm39)	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,949,501 (GRCm39)	V604M	possibly damaging	Het
Eif2ak2	A	G	17: 79,172,800 (GRCm39)	I295T	probably damaging	Het
Foxm1	G	A	6: 128,347,930 (GRCm39)	R284H	possibly damaging	Het
Gabra2	T	C	5: 71,119,415 (GRCm39)	I362M	probably benign	Het
Hivep1	C	A	13: 42,313,460 (GRCm39)	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,515,897 (GRCm39)	E268*	probably null	Het
Klk1b16	T	C	7: 43,790,102 (GRCm39)	L124P	probably damaging	Het
Ltf	A	T	9: 110,864,880 (GRCm39)		probably null	Het
Mpped2	T	A	2: 106,695,091 (GRCm39)	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,371,895 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,978,428 (GRCm39)	S429R	probably damaging	Het
Myl2	G	A	5: 122,244,767 (GRCm39)	V146I	probably benign	Het
Myo10	T	A	15: 25,739,395 (GRCm39)	I527N	possibly damaging	Het
Ncoa3	T	C	2: 165,894,715 (GRCm39)	S333P	probably damaging	Het
Or1j4	T	G	2: 36,740,282 (GRCm39)	S75A	probably damaging	Het
Or4k47	T	G	2: 111,451,685 (GRCm39)	T245P	probably damaging	Het
Oxct1	T	C	15: 4,083,246 (GRCm39)	F155S	probably damaging	Het
P4ha1	T	C	10: 59,175,157 (GRCm39)	V39A	probably damaging	Het
Padi6	G	T	4: 140,458,264 (GRCm39)	T514N	possibly damaging	Het
Pgm2	G	A	5: 64,265,139 (GRCm39)	V387I	probably damaging	Het
Ppt1	G	A	4: 122,737,800 (GRCm39)	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,662,827 (GRCm39)		probably benign	Het
Rpl26	T	C	11: 68,793,224 (GRCm39)	Y42H	probably benign	Het
Rundc1	A	G	11: 101,324,968 (GRCm39)	N558S	probably damaging	Het
Sema3e	T	G	5: 14,283,732 (GRCm39)		probably null	Het
Slc8a1	T	C	17: 81,696,371 (GRCm39)	I888V	probably benign	Het
Thsd7b	T	C	1: 129,523,883 (GRCm39)	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,085 (GRCm39)	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024 (GRCm39)	V119G	probably damaging	Het
Trpc1	T	C	9: 95,608,547 (GRCm39)	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763 (GRCm39)	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,911,976 (GRCm39)	R453W	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
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
R5106:Ctcf	UTSW	8	106,408,130 (GRCm39)	unclassified	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

Posted On

2013-06-21