Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Ctcf'

180673

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 #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

106363200-106409554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106396864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 363 (V363A)

Ref Sequence

ENSEMBL: ENSMUSP00000005841 (fasta)

Gene Model

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

AlphaFold

Q61164

Predicted Effect

probably benign
Transcript: ENSMUST00000005841
AA Change: V363A

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: V363A

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	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
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

2014-05-07