Mutagenetix > Incidental Mutation

Incidental Mutation 'P0023:Cited2'

15556

Institutional Source

Beutler Lab

Gene Symbol

Cited2

Ensembl Gene

ENSMUSG00000039910

Gene Name

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

Synonyms

p35srj, Mrg1, Msg2

MMRRC Submission

038276-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

P0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

17598966-17601422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17600463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 257 (D257G)

Ref Sequence

ENSEMBL: ENSMUSP00000151452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038107] [ENSMUST00000218370] [ENSMUST00000219558]

AlphaFold

O35740

Predicted Effect

probably damaging
Transcript: ENSMUST00000038107
AA Change: D257G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038405
Gene: ENSMUSG00000039910
AA Change: D257G

Domain	Start	End	E-Value	Type
Pfam:CITED	1	269	3.6e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218370

Predicted Effect

probably damaging
Transcript: ENSMUST00000219558
AA Change: D257G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.8439

Coding Region Coverage

1x: 85.1%
3x: 76.2%
10x: 34.8%
20x: 2.4%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mutations in this locus cause cardiac malformations, lethality between E13.5-18.5, neural tube defects, exencephaly, hydrops fetalis, small size, abnormal embryo turning, situs inversus, small spleen, dorsal root and cranial ganglia abnormalities, impaired kidney development and iris coloboma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,803 (GRCm39)		probably null	Het
Chp2	A	G	7: 121,821,361 (GRCm39)	N185S	probably benign	Het
Clptm1l	G	T	13: 73,753,071 (GRCm39)	R62L	possibly damaging	Het
Cmya5	C	T	13: 93,225,854 (GRCm39)	S3078N	probably benign	Het
Dcaf1	T	A	9: 106,737,650 (GRCm39)	F1169I	probably benign	Het
Efhc1	G	A	1: 21,025,751 (GRCm39)	V86I	probably benign	Het
Fanci	A	C	7: 79,052,048 (GRCm39)	D107A	probably benign	Het
Fyb1	A	T	15: 6,681,335 (GRCm39)	K74M	probably damaging	Het
Gapvd1	A	G	2: 34,596,700 (GRCm39)		probably benign	Het
Gm11992	T	C	11: 9,002,846 (GRCm39)	Y70H	probably damaging	Het
Lrba	A	G	3: 86,325,242 (GRCm39)	E1900G	probably damaging	Het
Lrpprc	G	A	17: 85,033,766 (GRCm39)	T1037M	probably benign	Het
Or8b50	A	G	9: 38,517,941 (GRCm39)	Y60C	probably damaging	Het
Piezo2	A	G	18: 63,519,271 (GRCm39)		probably benign	Het
Pld1	T	C	3: 28,102,274 (GRCm39)	S342P	probably damaging	Het
Prkag3	A	G	1: 74,779,898 (GRCm39)	L479P	probably damaging	Het
Rsf1	T	C	7: 97,311,478 (GRCm39)	I736T	probably damaging	Het
Tet2	C	A	3: 133,192,654 (GRCm39)	M593I	probably benign	Het
Ttpal	T	C	2: 163,453,729 (GRCm39)	Y167H	probably damaging	Het

Other mutations in Cited2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02167:Cited2	APN	10	17,600,018 (GRCm39)	missense	probably benign	0.00
IGL03019:Cited2	APN	10	17,599,910 (GRCm39)	missense	probably benign	0.03
IGL03368:Cited2	APN	10	17,599,944 (GRCm39)	missense	possibly damaging	0.65
IGL03408:Cited2	APN	10	17,600,148 (GRCm39)	missense	possibly damaging	0.68
R1735:Cited2	UTSW	10	17,599,794 (GRCm39)	missense	probably damaging	0.97
R7117:Cited2	UTSW	10	17,600,364 (GRCm39)	missense	possibly damaging	0.94
R7152:Cited2	UTSW	10	17,600,134 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-21