Incidental Mutation 'R6542:Ctbp1'
| ID |
520821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctbp1
|
| Ensembl Gene |
ENSMUSG00000037373 |
| Gene Name |
C-terminal binding protein 1 |
| Synonyms |
CtBP1-L, D4S115h, D5H4S115E, CtBP1-S, BARS, CtBP3/BARS, D5H4S115 |
| MMRRC Submission |
044668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R6542 (G1)
|
| Quality Score |
89.0077 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33405067-33432338 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 33426915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079746]
[ENSMUST00000200899]
[ENSMUST00000201275]
[ENSMUST00000201372]
[ENSMUST00000201575]
[ENSMUST00000202190]
[ENSMUST00000202820]
[ENSMUST00000202868]
[ENSMUST00000202962]
|
| AlphaFold |
O88712 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079746
|
| SMART Domains |
Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
30 |
352 |
3.3e-31 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
133 |
317 |
8.5e-58 |
PFAM |
|
Pfam:NAD_binding_2
|
174 |
291 |
9e-7 |
PFAM |
|
low complexity region
|
413 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200899
|
| SMART Domains |
Protein: ENSMUSP00000144672
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
85 |
7.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201275
|
| SMART Domains |
Protein: ENSMUSP00000144029
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2HU2|A
|
1 |
54 |
5e-33 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201372
|
| SMART Domains |
Protein: ENSMUSP00000143877
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
1 |
102 |
2.2e-17 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
59 |
180 |
3.7e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201575
|
| SMART Domains |
Protein: ENSMUSP00000144554
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
1 |
278 |
6.7e-22 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
59 |
243 |
6.4e-56 |
PFAM |
|
Pfam:NAD_binding_2
|
100 |
217 |
2.5e-5 |
PFAM |
|
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202820
|
| SMART Domains |
Protein: ENSMUSP00000144303
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
117 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202868
|
| SMART Domains |
Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
341 |
3.5e-31 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
122 |
306 |
8.6e-58 |
PFAM |
|
Pfam:NAD_binding_2
|
163 |
280 |
3.8e-7 |
PFAM |
|
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202962
|
| SMART Domains |
Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
269 |
3.3e-24 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
122 |
303 |
4.1e-51 |
PFAM |
|
Pfam:NAD_binding_2
|
163 |
280 |
2.1e-5 |
PFAM |
|
low complexity region
|
310 |
327 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial postnatal lethality and decreased body size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
| Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
| Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
| F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
| Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
| Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
| Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
| Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
| Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
| Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
| Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
| Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
| Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
| Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
| Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
| Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
| Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
| Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
| Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
| Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
| Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
probably damaging |
Het |
|
| Other mutations in Ctbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01825:Ctbp1
|
APN |
5 |
33,416,477 (GRCm39) |
splice site |
probably null |
|
|
IGL02109:Ctbp1
|
APN |
5 |
33,424,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
caboose
|
UTSW |
5 |
33,416,616 (GRCm39) |
missense |
probably benign |
0.39 |
|
Coda
|
UTSW |
5 |
33,416,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
interminable
|
UTSW |
5 |
33,416,589 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Terminal
|
UTSW |
5 |
33,408,204 (GRCm39) |
nonsense |
probably null |
|
|
R0282:Ctbp1
|
UTSW |
5 |
33,408,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1445:Ctbp1
|
UTSW |
5 |
33,418,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1988:Ctbp1
|
UTSW |
5 |
33,408,248 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2008:Ctbp1
|
UTSW |
5 |
33,408,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3810:Ctbp1
|
UTSW |
5 |
33,424,389 (GRCm39) |
splice site |
probably benign |
|
|
R4175:Ctbp1
|
UTSW |
5 |
33,424,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:Ctbp1
|
UTSW |
5 |
33,408,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4494:Ctbp1
|
UTSW |
5 |
33,408,213 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5381:Ctbp1
|
UTSW |
5 |
33,407,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6764:Ctbp1
|
UTSW |
5 |
33,416,589 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6770:Ctbp1
|
UTSW |
5 |
33,408,204 (GRCm39) |
nonsense |
probably null |
|
|
R7354:Ctbp1
|
UTSW |
5 |
33,407,732 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7946:Ctbp1
|
UTSW |
5 |
33,407,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8951:Ctbp1
|
UTSW |
5 |
33,416,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Ctbp1
|
UTSW |
5 |
33,416,616 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9037:Ctbp1
|
UTSW |
5 |
33,424,352 (GRCm39) |
missense |
probably benign |
|
|
R9192:Ctbp1
|
UTSW |
5 |
33,408,333 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2018-06-06 |
Incidental Mutation