Incidental Mutation 'IGL03408:Cited2'
ID 421681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cited2
Ensembl Gene ENSMUSG00000039910
Gene Name Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
Synonyms p35srj, Mrg1, Msg2
Accession Numbers
Essential gene? Not available question?
Stock # IGL03408
Quality Score
Status
Chromosome 10
Chromosomal Location 17598966-17601422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17600148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 152 (H152R)
Ref Sequence ENSEMBL: ENSMUSP00000151452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038107] [ENSMUST00000218370] [ENSMUST00000219558]
AlphaFold O35740
Predicted Effect possibly damaging
Transcript: ENSMUST00000038107
AA Change: H152R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038405
Gene: ENSMUSG00000039910
AA Change: H152R

DomainStartEndE-ValueType
Pfam:CITED 1 269 3.6e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218370
Predicted Effect possibly damaging
Transcript: ENSMUST00000219558
AA Change: H152R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,303,954 (GRCm39) F2108I probably damaging Het
Aco2 T C 15: 81,783,424 (GRCm39) probably null Het
Ccdc186 T C 19: 56,787,163 (GRCm39) K602E probably benign Het
Ccdc85a T A 11: 28,526,528 (GRCm39) H360L probably damaging Het
Cluh C A 11: 74,556,779 (GRCm39) R940S probably benign Het
Corin T A 5: 72,500,304 (GRCm39) Y432F probably benign Het
Creb1 A G 1: 64,615,491 (GRCm39) probably null Het
Dhx15 A T 5: 52,317,654 (GRCm39) D568E probably damaging Het
Efcab3 T A 11: 104,601,447 (GRCm39) S253R probably benign Het
Esam G T 9: 37,445,949 (GRCm39) R162S possibly damaging Het
Fat3 T A 9: 15,909,253 (GRCm39) K2250* probably null Het
Fbxl17 G A 17: 63,387,541 (GRCm39) R133* probably null Het
Gzmc C T 14: 56,471,473 (GRCm39) G23R probably damaging Het
Idh3a A G 9: 54,504,206 (GRCm39) N189D probably benign Het
Il31ra A T 13: 112,662,422 (GRCm39) D462E probably benign Het
Inava T C 1: 136,142,143 (GRCm39) Y652C probably benign Het
Inpp5j G A 11: 3,452,809 (GRCm39) A147V possibly damaging Het
Kalrn G A 16: 34,134,546 (GRCm39) A412V probably damaging Het
Lrp1b A G 2: 40,748,594 (GRCm39) V2968A probably damaging Het
Morc1 G A 16: 48,262,775 (GRCm39) G42R probably damaging Het
Notch4 T C 17: 34,784,542 (GRCm39) L85P probably benign Het
Or4c52 G A 2: 89,845,915 (GRCm39) V214M probably benign Het
Or5p73 A T 7: 108,064,554 (GRCm39) N8Y probably damaging Het
Parp4 T A 14: 56,839,865 (GRCm39) H524Q probably damaging Het
Pole T C 5: 110,442,426 (GRCm39) F285L probably damaging Het
Scn9a A G 2: 66,357,091 (GRCm39) M1070T probably benign Het
Slc25a32 G A 15: 38,963,425 (GRCm39) A132V probably benign Het
Sult2a2 T G 7: 13,472,154 (GRCm39) I117S probably damaging Het
Suv39h2 T C 2: 3,460,913 (GRCm39) N183S probably damaging Het
Trhr2 G A 8: 123,085,534 (GRCm39) T150M probably damaging Het
Usp34 T A 11: 23,396,957 (GRCm39) F614I possibly damaging Het
Vmn2r17 A G 5: 109,577,238 (GRCm39) probably benign Het
Wfdc2 T A 2: 164,405,283 (GRCm39) C61* probably null Het
Zfp384 T C 6: 125,012,676 (GRCm39) S377P probably damaging Het
Zfp945 A T 17: 23,071,511 (GRCm39) Y150* probably null Het
Other mutations in Cited2
AlleleSourceChrCoordTypePredicted EffectPPH 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
P0023:Cited2 UTSW 10 17,600,463 (GRCm39) missense probably damaging 1.00
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 2016-08-02