Incidental Mutation 'IGL02109:Ctbp1'
ID 281162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctbp1
Ensembl Gene ENSMUSG00000037373
Gene Name C-terminal binding protein 1
Synonyms CtBP1-L, D4S115h, D5H4S115E, CtBP1-S, BARS, CtBP3/BARS, D5H4S115
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL02109
Quality Score
Status
Chromosome 5
Chromosomal Location 33405067-33432338 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33424312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 26 (D26G)
Ref Sequence ENSEMBL: ENSMUSP00000144596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079746] [ENSMUST00000200899] [ENSMUST00000201275] [ENSMUST00000201372] [ENSMUST00000201575] [ENSMUST00000202190] [ENSMUST00000202962] [ENSMUST00000202868] [ENSMUST00000202820]
AlphaFold O88712
Predicted Effect possibly damaging
Transcript: ENSMUST00000079746
AA Change: D37G

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078682
Gene: ENSMUSG00000037373
AA Change: D37G

DomainStartEndE-ValueType
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
AA Change: D26G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144672
Gene: ENSMUSG00000037373
AA Change: D26G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 19 85 7.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201275
AA Change: D26G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000144029
Gene: ENSMUSG00000037373
AA Change: D26G

DomainStartEndE-ValueType
PDB:2HU2|A 1 54 5e-33 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000201372
SMART Domains Protein: ENSMUSP00000143877
Gene: ENSMUSG00000037373

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000202190
AA Change: D26G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000202962
AA Change: D26G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
AA Change: D26G

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000202868
AA Change: D26G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144024
Gene: ENSMUSG00000037373
AA Change: D26G

DomainStartEndE-ValueType
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: ENSMUST00000202820
AA Change: D26G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144303
Gene: ENSMUSG00000037373
AA Change: D26G

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 19 117 2.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202632
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T A 8: 23,586,200 (GRCm39) N427K probably damaging Het
Ano10 C T 9: 122,090,408 (GRCm39) E302K probably damaging Het
Arl3 T A 19: 46,530,785 (GRCm39) probably benign Het
Clec14a T A 12: 58,314,934 (GRCm39) E229D probably benign Het
Flt3 G T 5: 147,287,491 (GRCm39) H671N probably benign Het
Fras1 A G 5: 96,848,382 (GRCm39) D1799G probably benign Het
Il20ra G A 10: 19,635,253 (GRCm39) G498D possibly damaging Het
Kcnu1 T G 8: 26,427,727 (GRCm39) L348R possibly damaging Het
Lrpprc A T 17: 85,033,998 (GRCm39) L999* probably null Het
Myt1 T G 2: 181,457,410 (GRCm39) probably benign Het
N4bp2 C T 5: 65,955,477 (GRCm39) T467M probably damaging Het
Nup98 T C 7: 101,832,693 (GRCm39) T355A probably benign Het
Ocstamp A T 2: 165,239,256 (GRCm39) V310E possibly damaging Het
Or4k39 T G 2: 111,238,838 (GRCm39) noncoding transcript Het
Or8b3 T C 9: 38,314,382 (GRCm39) F71L possibly damaging Het
Plcb1 C A 2: 134,628,479 (GRCm39) H9Q probably damaging Het
Plxna4 T A 6: 32,192,576 (GRCm39) Q795L probably benign Het
Pms1 A G 1: 53,246,568 (GRCm39) S324P probably damaging Het
Pnldc1 G T 17: 13,124,425 (GRCm39) H143Q probably benign Het
Ppp1r12b A G 1: 134,800,543 (GRCm39) probably null Het
Ryr3 A G 2: 112,779,502 (GRCm39) F250L probably benign Het
Scgn T C 13: 24,137,948 (GRCm39) D241G possibly damaging Het
St8sia4 T C 1: 95,588,617 (GRCm39) I73V possibly damaging Het
Tle3 T A 9: 61,320,332 (GRCm39) C595S probably damaging Het
Tmem209 T C 6: 30,497,944 (GRCm39) Y117C probably damaging Het
Tshr T A 12: 91,504,766 (GRCm39) I568N probably damaging Het
Ttll10 C T 4: 156,131,937 (GRCm39) D22N probably benign Het
Ttn A T 2: 76,640,202 (GRCm39) V13802E probably damaging Het
Other mutations in Ctbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Ctbp1 APN 5 33,416,477 (GRCm39) splice site probably null
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
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
Posted On 2015-04-16