Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02010:Ctcf'

183324

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 #

IGL02010

Quality Score

Status

Chromosome

Chromosomal Location

106363200-106409554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106391597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 297 (H297Q)

Ref Sequence

ENSEMBL: ENSMUSP00000005841 (fasta)

Gene Model

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

AlphaFold

Q61164

Predicted Effect

probably damaging
Transcript: ENSMUST00000005841
AA Change: H297Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: H297Q

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: ENSMUST00000116136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132679

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,110,442 (GRCm39)	D569G	probably benign	Het
Abhd17b	C	T	19: 21,661,485 (GRCm39)	T224I	probably benign	Het
Atf6b	T	A	17: 34,873,626 (GRCm39)	S695R	probably benign	Het
Cdh6	A	C	15: 13,034,276 (GRCm39)		probably benign	Het
Cep290	G	T	10: 100,344,569 (GRCm39)	C462F	probably benign	Het
Cep290	T	C	10: 100,397,207 (GRCm39)	S2156P	probably benign	Het
Cfap20dc	A	T	14: 8,578,384 (GRCm38)	H119Q	possibly damaging	Het
Cit	T	C	5: 116,014,006 (GRCm39)	F240L	probably damaging	Het
Col1a2	T	A	6: 4,512,416 (GRCm39)		probably null	Het
Dhx29	T	C	13: 113,103,168 (GRCm39)		probably null	Het
Dhx37	T	G	5: 125,495,777 (GRCm39)	T835P	possibly damaging	Het
Enc1	C	T	13: 97,381,588 (GRCm39)	L33F	possibly damaging	Het
Epyc	T	A	10: 97,485,563 (GRCm39)	M1K	probably null	Het
F10	T	C	8: 13,098,292 (GRCm39)	I165T	probably damaging	Het
Fam124a	T	C	14: 62,824,728 (GRCm39)	L74P	probably damaging	Het
Fam234b	A	G	6: 135,186,405 (GRCm39)	S138G	probably benign	Het
Fam81a	T	C	9: 70,006,419 (GRCm39)	K198E	probably benign	Het
Fbn2	T	C	18: 58,170,794 (GRCm39)	Y2199C	probably damaging	Het
Fign	A	C	2: 63,810,744 (GRCm39)	S175R	probably damaging	Het
Grik1	T	C	16: 87,848,396 (GRCm39)	N124S	possibly damaging	Het
Hdac9	G	T	12: 34,481,944 (GRCm39)	L175M	probably damaging	Het
Hephl1	A	C	9: 15,001,852 (GRCm39)	Y163*	probably null	Het
Hes1	G	A	16: 29,886,128 (GRCm39)	G244D	probably damaging	Het
Hexb	A	G	13: 97,313,353 (GRCm39)	L501P	probably benign	Het
Igkv5-43	T	C	6: 69,752,936 (GRCm39)	I49V	probably benign	Het
Ipo5	T	C	14: 121,170,789 (GRCm39)	S491P	probably benign	Het
Jakmip2	C	T	18: 43,692,158 (GRCm39)		probably null	Het
Lrfn5	A	G	12: 61,886,469 (GRCm39)	T86A	probably damaging	Het
Lrp1b	T	C	2: 41,358,954 (GRCm39)	T640A	probably damaging	Het
M6pr	G	T	6: 122,292,085 (GRCm39)	R139L	possibly damaging	Het
Myl9	A	T	2: 156,620,579 (GRCm39)	N39Y	probably damaging	Het
Nlrp3	A	G	11: 59,440,361 (GRCm39)	D646G	probably benign	Het
Nlrp5	A	T	7: 23,116,797 (GRCm39)	M174L	probably benign	Het
Nnmt	T	A	9: 48,503,331 (GRCm39)	I232F	probably damaging	Het
Nrg1	T	C	8: 32,408,171 (GRCm39)	T21A	probably benign	Het
Or5t15	C	T	2: 86,681,541 (GRCm39)	C167Y	possibly damaging	Het
Or6c65	A	G	10: 129,604,136 (GRCm39)	Y257C	probably benign	Het
Pcare	T	A	17: 72,056,459 (GRCm39)	T1073S	probably benign	Het
Pcdh7	T	G	5: 58,286,597 (GRCm39)	N1224K	probably benign	Het
Pde4a	T	C	9: 21,114,850 (GRCm39)		probably null	Het
Pfkfb3	T	C	2: 11,488,805 (GRCm39)	T320A	probably benign	Het
Plekhm2	T	C	4: 141,364,730 (GRCm39)		probably benign	Het
Rabgap1l	C	T	1: 160,299,641 (GRCm39)	R584H	probably damaging	Het
Rnf157	T	A	11: 116,287,052 (GRCm39)	N57I	probably damaging	Het
Rtf1	G	A	2: 119,531,747 (GRCm39)		probably null	Het
Sap130	C	A	18: 31,782,655 (GRCm39)	R189S	probably damaging	Het
Slc34a1	T	G	13: 24,003,025 (GRCm39)	V225G	probably benign	Het
Smg1	T	C	7: 117,785,369 (GRCm39)		probably benign	Het
Tecta	G	A	9: 42,248,489 (GRCm39)	T1971I	probably damaging	Het
Tlcd5	A	T	9: 43,022,859 (GRCm39)	V165E	probably damaging	Het
Tmem263	T	A	10: 84,950,274 (GRCm39)	S22T	probably benign	Het
Tnrc18	A	T	5: 142,773,049 (GRCm39)	F410L	unknown	Het
Ttc27	T	G	17: 75,087,906 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,668 (GRCm39)	C101S	probably damaging	Het
Wdr17	T	C	8: 55,112,738 (GRCm39)	K781E	probably damaging	Het
Xkr6	C	T	14: 64,056,653 (GRCm39)	T188M	probably benign	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
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

2014-05-07