Incidental Mutation 'IGL02545:Ctcf'
| ID |
297790 |
| 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)
|
| Stock # |
IGL02545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106363200-106409554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106391013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 207
(T207A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005841]
|
| AlphaFold |
Q61164 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005841
AA Change: T207A
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005841
Gene: ENSMUSG00000005698
AA Change: T207A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,994 (GRCm39) |
L88P |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,590,684 (GRCm39) |
Q354* |
probably null |
Het |
| Aox3 |
A |
C |
1: 58,222,645 (GRCm39) |
D1146A |
probably damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,850 (GRCm39) |
H340L |
probably damaging |
Het |
| Ccni |
G |
T |
5: 93,335,636 (GRCm39) |
F167L |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,525,838 (GRCm39) |
H580R |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,177 (GRCm39) |
D53G |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,939,271 (GRCm39) |
L159Q |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,093,095 (GRCm39) |
I630T |
possibly damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,847,715 (GRCm39) |
T202A |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,607,009 (GRCm39) |
Y214C |
probably damaging |
Het |
| Gna14 |
T |
A |
19: 16,511,090 (GRCm39) |
S46R |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,043,153 (GRCm39) |
I627T |
probably damaging |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,359 (GRCm39) |
A87V |
probably damaging |
Het |
| Itch |
G |
A |
2: 155,014,506 (GRCm39) |
|
probably null |
Het |
| Klrb1b |
T |
C |
6: 128,797,272 (GRCm39) |
Q72R |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,082,853 (GRCm39) |
F144L |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,891,011 (GRCm39) |
|
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,338 (GRCm39) |
F72L |
probably damaging |
Het |
| Neu1 |
T |
A |
17: 35,150,477 (GRCm39) |
V32E |
probably benign |
Het |
| Or5k17 |
T |
A |
16: 58,746,833 (GRCm39) |
I34F |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,853,060 (GRCm39) |
K611E |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,706,280 (GRCm39) |
V340A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,468,998 (GRCm39) |
|
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,481,306 (GRCm39) |
W210* |
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,079 (GRCm39) |
Y511H |
probably damaging |
Het |
| Psme4 |
T |
G |
11: 30,791,586 (GRCm39) |
V1147G |
possibly damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,654,754 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
T |
A |
12: 105,146,296 (GRCm39) |
|
probably benign |
Het |
| Trim54 |
T |
A |
5: 31,289,509 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,388,357 (GRCm39) |
R2143Q |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,113 (GRCm39) |
V168D |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,655,798 (GRCm39) |
M406K |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation