Incidental Mutation 'R4494:Ctbp1'
| ID |
330876 |
| 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 |
041582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R4494 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33405067-33432338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33408213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 240
(T240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079746]
[ENSMUST00000201275]
[ENSMUST00000201372]
[ENSMUST00000201575]
[ENSMUST00000202868]
[ENSMUST00000202962]
|
| AlphaFold |
O88712 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079746
AA Change: T251A
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
AA Change: T251A
| 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: 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
AA Change: T177A
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143877
Gene: ENSMUSG00000037373
AA Change: T177A
| 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 |
noncoding transcript
Transcript: ENSMUST00000201514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201575
AA Change: T177A
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144554
Gene: ENSMUSG00000037373
AA Change: T177A
| 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 |
noncoding transcript
Transcript: ENSMUST00000202021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202135
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202868
AA Change: T240A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
AA Change: T240A
| 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
AA Change: T240A
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
AA Change: T240A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7ip |
T |
A |
6: 136,540,747 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,842,770 (GRCm39) |
D262G |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,464,128 (GRCm39) |
Y36H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,428 (GRCm39) |
S492T |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,670,281 (GRCm39) |
I492F |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,012,043 (GRCm39) |
Y217H |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 19,098,150 (GRCm39) |
D90V |
probably benign |
Het |
| Cryba2 |
A |
G |
1: 74,929,789 (GRCm39) |
F116S |
probably damaging |
Het |
| D130043K22Rik |
C |
T |
13: 25,055,339 (GRCm39) |
S501L |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,228,261 (GRCm39) |
F553S |
probably benign |
Het |
| Ddr2 |
C |
A |
1: 169,815,983 (GRCm39) |
G575W |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,621,098 (GRCm39) |
V537A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,593,812 (GRCm39) |
A752V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,488,197 (GRCm39) |
D3260G |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,530,339 (GRCm39) |
C309S |
probably damaging |
Het |
| Gse1 |
G |
A |
8: 121,297,553 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
T |
C |
3: 40,707,636 (GRCm39) |
S53P |
possibly damaging |
Het |
| Ighv5-4 |
T |
C |
12: 113,561,204 (GRCm39) |
D72G |
probably benign |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,780 (GRCm39) |
N73S |
probably benign |
Het |
| Igsf11 |
T |
G |
16: 38,831,703 (GRCm39) |
N183K |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,263 (GRCm39) |
V136A |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,480,136 (GRCm39) |
Y240* |
probably null |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Man2a2 |
C |
T |
7: 80,009,023 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,254,613 (GRCm39) |
N491S |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msi2 |
T |
C |
11: 88,608,185 (GRCm39) |
D39G |
possibly damaging |
Het |
| Naa60 |
T |
A |
16: 3,718,585 (GRCm39) |
C122* |
probably null |
Het |
| Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nme6 |
C |
T |
9: 109,671,122 (GRCm39) |
L121F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,493 (GRCm39) |
K309* |
probably null |
Het |
| Otud1 |
C |
T |
2: 19,664,146 (GRCm39) |
T425I |
probably damaging |
Het |
| Pimreg |
T |
C |
11: 71,935,964 (GRCm39) |
V149A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,590,856 (GRCm39) |
I437V |
probably damaging |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Slc1a3 |
G |
A |
15: 8,668,579 (GRCm39) |
T462I |
probably damaging |
Het |
| Slc25a26 |
A |
G |
6: 94,575,384 (GRCm39) |
T198A |
probably damaging |
Het |
| Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
| Svop |
T |
C |
5: 114,183,688 (GRCm39) |
T195A |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,207,100 (GRCm39) |
S233P |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,285,473 (GRCm39) |
T2003I |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,335 (GRCm39) |
V402E |
probably damaging |
Het |
| Vmn2r3 |
C |
G |
3: 64,182,692 (GRCm39) |
G336R |
probably damaging |
Het |
| Wdr89 |
A |
T |
12: 75,679,521 (GRCm39) |
D244E |
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 |
|
R5381:Ctbp1
|
UTSW |
5 |
33,407,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6542:Ctbp1
|
UTSW |
5 |
33,426,915 (GRCm39) |
start gained |
probably benign |
|
|
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 |
PCR Primer
(F):5'- GCATCAGCAAGTATACCCTGATG -3'
(R):5'- CTTCGGGCAAAGGCTTTTGG -3'
Sequencing Primer
(F):5'- GACAGGCCCAGGAATTTAACTACTG -3'
(R):5'- GGCTTTTGGCTTCAACGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation