Incidental Mutation 'R2925:Ctcfl'
| ID |
255691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctcfl
|
| Ensembl Gene |
ENSMUSG00000070495 |
| Gene Name |
CCCTC-binding factor like |
| Synonyms |
Boris, OTTMUSG00000016680 |
| MMRRC Submission |
040510-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R2925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172935402-172961318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 172936489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 628
(E628K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094287]
[ENSMUST00000179693]
|
| AlphaFold |
A2APF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094287
AA Change: E628K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: E628K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
194 |
202 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
257 |
279 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
313 |
336 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
398 |
421 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
428 |
451 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
546 |
572 |
5.2e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179693
AA Change: E628K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: E628K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
194 |
202 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
257 |
279 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
313 |
336 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
398 |
421 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
428 |
451 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
2.32e-1 |
SMART |
|
ZnF_C2H2
|
546 |
572 |
5.2e0 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. [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 |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,755 (GRCm39) |
T93A |
probably damaging |
Het |
| Acte1 |
A |
T |
7: 143,437,736 (GRCm39) |
R147* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,626,349 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,910,202 (GRCm39) |
V168A |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,727,997 (GRCm39) |
E337G |
probably damaging |
Het |
| Bltp1 |
G |
T |
3: 37,061,271 (GRCm39) |
A3327S |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,665,984 (GRCm39) |
S283P |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,821,907 (GRCm39) |
T1856M |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,857 (GRCm39) |
D30G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,597,919 (GRCm39) |
I74F |
probably damaging |
Het |
| Ecpas |
T |
A |
4: 58,833,928 (GRCm39) |
K851* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,242,837 (GRCm39) |
C846S |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lyz3 |
C |
T |
10: 117,070,336 (GRCm39) |
R147Q |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,673,667 (GRCm39) |
G29S |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,706 (GRCm39) |
Y119* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,806,125 (GRCm39) |
C179* |
probably null |
Het |
| Or8k32 |
C |
T |
2: 86,368,891 (GRCm39) |
D121N |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,342 (GRCm39) |
S7R |
probably benign |
Het |
| P2ry13 |
G |
A |
3: 59,116,801 (GRCm39) |
H326Y |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Rc3h1 |
A |
G |
1: 160,782,546 (GRCm39) |
Y675C |
probably damaging |
Het |
| Samd3 |
T |
A |
10: 26,127,785 (GRCm39) |
S288T |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,047,177 (GRCm39) |
P400Q |
unknown |
Het |
| Selplg |
T |
C |
5: 113,958,240 (GRCm39) |
D22G |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,708,999 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tnks |
G |
A |
8: 35,432,815 (GRCm39) |
A2V |
unknown |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Zbed5 |
A |
G |
5: 129,932,039 (GRCm39) |
T663A |
possibly damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,794,447 (GRCm39) |
R8Q |
probably benign |
Het |
|
| Other mutations in Ctcfl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01344:Ctcfl
|
APN |
2 |
172,936,527 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01418:Ctcfl
|
APN |
2 |
172,960,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01524:Ctcfl
|
APN |
2 |
172,959,177 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02610:Ctcfl
|
APN |
2 |
172,947,819 (GRCm39) |
splice site |
probably benign |
|
|
IGL02961:Ctcfl
|
APN |
2 |
172,943,712 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
BB001:Ctcfl
|
UTSW |
2 |
172,955,449 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
BB011:Ctcfl
|
UTSW |
2 |
172,955,449 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0147:Ctcfl
|
UTSW |
2 |
172,960,340 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0148:Ctcfl
|
UTSW |
2 |
172,960,340 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0362:Ctcfl
|
UTSW |
2 |
172,960,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1099:Ctcfl
|
UTSW |
2 |
172,954,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Ctcfl
|
UTSW |
2 |
172,954,141 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1892:Ctcfl
|
UTSW |
2 |
172,960,478 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2036:Ctcfl
|
UTSW |
2 |
172,943,778 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2060:Ctcfl
|
UTSW |
2 |
172,960,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4327:Ctcfl
|
UTSW |
2 |
172,955,299 (GRCm39) |
intron |
probably benign |
|
|
R4837:Ctcfl
|
UTSW |
2 |
172,955,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4894:Ctcfl
|
UTSW |
2 |
172,959,196 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4909:Ctcfl
|
UTSW |
2 |
172,937,191 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5128:Ctcfl
|
UTSW |
2 |
172,959,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5247:Ctcfl
|
UTSW |
2 |
172,955,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Ctcfl
|
UTSW |
2 |
172,937,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6768:Ctcfl
|
UTSW |
2 |
172,959,084 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7045:Ctcfl
|
UTSW |
2 |
172,954,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Ctcfl
|
UTSW |
2 |
172,947,770 (GRCm39) |
splice site |
probably null |
|
|
R7256:Ctcfl
|
UTSW |
2 |
172,960,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7268:Ctcfl
|
UTSW |
2 |
172,949,588 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7378:Ctcfl
|
UTSW |
2 |
172,954,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Ctcfl
|
UTSW |
2 |
172,960,199 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7657:Ctcfl
|
UTSW |
2 |
172,955,449 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7733:Ctcfl
|
UTSW |
2 |
172,958,985 (GRCm39) |
missense |
probably benign |
|
|
R7924:Ctcfl
|
UTSW |
2 |
172,955,449 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7945:Ctcfl
|
UTSW |
2 |
172,960,451 (GRCm39) |
missense |
probably benign |
|
|
R8022:Ctcfl
|
UTSW |
2 |
172,960,559 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8038:Ctcfl
|
UTSW |
2 |
172,943,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Ctcfl
|
UTSW |
2 |
172,937,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9031:Ctcfl
|
UTSW |
2 |
172,959,044 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9358:Ctcfl
|
UTSW |
2 |
172,960,581 (GRCm39) |
start codon destroyed |
possibly damaging |
0.81 |
|
R9401:Ctcfl
|
UTSW |
2 |
172,947,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9490:Ctcfl
|
UTSW |
2 |
172,960,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ctcfl
|
UTSW |
2 |
172,960,137 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ctcfl
|
UTSW |
2 |
172,943,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTGGAAATAGCTGCAGGG -3'
(R):5'- GGGCTCCAACAACATTGACTG -3'
Sequencing Primer
(F):5'- AACACTGTGCTGTGTCTG -3'
(R):5'- GGCTCCAACAACATTGACTGTCTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation