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: 0.945)
|
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 |