Incidental Mutation 'R4175:Ctbp1'
| ID |
318258 |
| 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 |
041013-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R4175 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
33405067-33432338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33424250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 47
(S47P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079746]
[ENSMUST00000200899]
[ENSMUST00000201275]
[ENSMUST00000201372]
[ENSMUST00000201575]
[ENSMUST00000202190]
[ENSMUST00000202820]
[ENSMUST00000202868]
[ENSMUST00000202962]
|
| AlphaFold |
O88712 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079746
AA Change: S58P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
AA Change: S58P
| 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 |
possibly damaging
Transcript: ENSMUST00000200899
AA Change: S47P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144672
Gene: ENSMUSG00000037373
AA Change: S47P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
85 |
7.5e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201275
AA Change: S47P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144029
Gene: ENSMUSG00000037373
AA Change: S47P
| 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 |
possibly damaging
Transcript: ENSMUST00000202820
AA Change: S47P
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144303
Gene: ENSMUSG00000037373
AA Change: S47P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
19 |
117 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202868
AA Change: S47P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
AA Change: S47P
| 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 damaging
Transcript: ENSMUST00000202962
AA Change: S47P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
AA Change: S47P
| 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 |
|
| Meta Mutation Damage Score |
0.7232 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (46/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd63 |
T |
C |
2: 118,533,100 (GRCm39) |
M274V |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,860,050 (GRCm39) |
D724V |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,653 (GRCm39) |
N43S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,861 (GRCm39) |
H1280R |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,370,057 (GRCm39) |
V139M |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clmp |
A |
T |
9: 40,682,432 (GRCm39) |
N72I |
probably benign |
Het |
| Col11a1 |
A |
C |
3: 114,001,872 (GRCm39) |
D432A |
possibly damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,813,520 (GRCm39) |
F506L |
probably benign |
Het |
| Dus1l |
G |
A |
11: 120,686,506 (GRCm39) |
R12C |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,861,388 (GRCm39) |
Q197R |
probably null |
Het |
| Epb41l4b |
A |
G |
4: 57,076,556 (GRCm39) |
V326A |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,364,294 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
T |
A |
6: 130,654,110 (GRCm39) |
T451S |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,510,267 (GRCm39) |
M141L |
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,290,937 (GRCm39) |
S377P |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,596,092 (GRCm39) |
L822P |
probably damaging |
Het |
| Kcnip2 |
G |
C |
19: 45,800,654 (GRCm39) |
T24S |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,178,765 (GRCm39) |
Y469H |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,410,676 (GRCm39) |
C77Y |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,467,236 (GRCm39) |
T271A |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,128,020 (GRCm39) |
S118T |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,962 (GRCm39) |
D70E |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,882,027 (GRCm39) |
V39D |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,467,829 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,889 (GRCm39) |
K836E |
probably damaging |
Het |
| Phaf1 |
T |
C |
8: 105,967,763 (GRCm39) |
L218P |
probably benign |
Het |
| Pik3r1 |
A |
T |
13: 101,838,240 (GRCm39) |
L272H |
probably damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,838,241 (GRCm39) |
L272F |
probably benign |
Het |
| Prrc2b |
G |
GCT |
2: 32,108,820 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
G |
10: 107,547,778 (GRCm39) |
I207L |
probably benign |
Het |
| Rasa2 |
G |
T |
9: 96,442,830 (GRCm39) |
T531K |
probably benign |
Het |
| Six4 |
G |
A |
12: 73,155,605 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,731,416 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,819,492 (GRCm39) |
G231R |
probably null |
Het |
| Slco3a1 |
T |
A |
7: 73,968,302 (GRCm39) |
N473Y |
probably damaging |
Het |
| Tapt1 |
G |
A |
5: 44,334,447 (GRCm39) |
L515F |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,008,218 (GRCm39) |
I253T |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Unc13a |
A |
G |
8: 72,120,368 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,173,970 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,840 (GRCm39) |
T125A |
possibly 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 |
|
|
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 |
|
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'- TTTAGACCCACTGTGGCCAGAG -3'
(R):5'- AGCAAATTCTCAGGGCTGAC -3'
Sequencing Primer
(F):5'- GGCTGAGGAACATGACTACTGTTG -3'
(R):5'- CCAACTCGAGTGGGTAGTACAGTTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation