Mutagenetix > Incidental Mutation

Incidental Mutation 'R7725:Ctcf'

595447

Institutional Source

Beutler Lab

Gene Symbol

Ctcf

Ensembl Gene

ENSMUSG00000005698

Gene Name

CCCTC-binding factor

Synonyms

MMRRC Submission

045781-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106363200-106409554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106390468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 25 (Y25C)

Ref Sequence

ENSEMBL: ENSMUSP00000005841 (fasta)

Gene Model

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

AlphaFold

Q61164

Predicted Effect

probably damaging
Transcript: ENSMUST00000005841
AA Change: Y25C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: Y25C

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

Meta Mutation Damage Score

0.0910

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	A	T	9: 69,387,410 (GRCm39)	K6N	unknown	Het
Arhgap20	T	A	9: 51,743,050 (GRCm39)	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,256,910 (GRCm39)	V20I	not run	Het
Bop1	A	G	15: 76,339,583 (GRCm39)	I254T	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cct4	A	G	11: 22,940,814 (GRCm39)	K21E	probably benign	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,546,853 (GRCm39)	Y238*	probably null	Het
Col19a1	A	T	1: 24,309,525 (GRCm39)	S1043T	possibly damaging	Het
Dennd4c	C	T	4: 86,704,330 (GRCm39)	R282C	probably benign	Het
Eef1g	T	A	19: 8,955,427 (GRCm39)	H425Q	probably benign	Het
Fam131b	C	T	6: 42,295,476 (GRCm39)	A234T	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam187b	A	G	7: 30,677,139 (GRCm39)	D216G	possibly damaging	Het
Gabra1	A	T	11: 42,026,270 (GRCm39)	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,739,659 (GRCm39)		probably null	Het
Gm3667	T	A	14: 18,271,599 (GRCm39)	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,242,118 (GRCm39)	R242H	probably damaging	Het
Gulo	T	C	14: 66,245,522 (GRCm39)	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,358,680 (GRCm39)	E49V	unknown	Het
Htra4	A	G	8: 25,527,169 (GRCm39)	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,489,196 (GRCm39)	S22P	probably benign	Het
Lypd8l	A	T	11: 58,499,325 (GRCm39)	N164K	probably benign	Het
Med12l	A	G	3: 59,163,413 (GRCm39)	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,284,788 (GRCm39)	D592E	probably benign	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Ncor2	A	G	5: 125,100,630 (GRCm39)	V1316A		Het
Odad1	T	A	7: 45,597,835 (GRCm39)	S582T	probably damaging	Het
Or2t43	A	G	11: 58,457,593 (GRCm39)	Y193H	probably damaging	Het
Or2y10	A	T	11: 49,455,359 (GRCm39)	I204L	probably benign	Het
Or5t16	T	C	2: 86,819,323 (GRCm39)	I66V	probably benign	Het
Serpina6	A	T	12: 103,614,936 (GRCm39)	Y303*	probably null	Het
Shld2	T	G	14: 33,990,661 (GRCm39)	T82P	possibly damaging	Het
Shroom3	T	C	5: 93,089,512 (GRCm39)	L754P	probably benign	Het
Skint5	C	A	4: 113,685,099 (GRCm39)	L539F	unknown	Het
St3gal4	C	A	9: 34,964,375 (GRCm39)	R209L	possibly damaging	Het
Tex14	A	C	11: 87,385,868 (GRCm39)	T243P	probably damaging	Het
Ttc12	T	A	9: 49,351,602 (GRCm39)	M632L	probably benign	Het
Ttn	T	C	2: 76,738,116 (GRCm39)	E4187G	unknown	Het
Txk	G	A	5: 72,864,900 (GRCm39)	A379V	probably damaging	Het
Wdr43	A	G	17: 71,923,338 (GRCm39)	Y28C	probably benign	Het
Zfp1005	A	G	2: 150,110,468 (GRCm39)	Y386C	unknown	Het
Zfp40	A	G	17: 23,397,251 (GRCm39)	V82A	probably benign	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	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
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
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'- GCCTAATTCATTCACTAAGGTGGG -3'
(R):5'- ATCTGGGTATCGTCCACTGC -3'

Sequencing Primer
(F):5'- AGAAATCTGCCTGCCTGTG -3'
(R):5'- TTCCGGAGCCACTGTACC -3'

Posted On

2019-11-12