Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Ctbp1'

649347

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

045991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R7946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33405067-33432338 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33407688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 296 (M296K)

Ref Sequence

ENSEMBL: ENSMUSP00000144251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079746] [ENSMUST00000201275] [ENSMUST00000201372] [ENSMUST00000201575] [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: 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: 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
AA Change: M296K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144251
Gene: ENSMUSG00000037373
AA Change: M296K

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: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Afap1	A	G	5: 36,092,995 (GRCm39)	N33S	probably benign	Het
Afap1	G	A	5: 36,141,396 (GRCm39)		probably null	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		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
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
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'- GGACCATCATGGACATCAAGAG -3'
(R):5'- AAAGCCCCAGTGTCAGTCAC -3'

Sequencing Primer
(F):5'- TCATGGACATCAAGAGACAAACTG -3'
(R):5'- GTGTCAGTCACTCACATGGTC -3'

Posted On

2020-09-15