Incidental Mutation 'IGL03408:Cited2'
ID421681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cited2
Ensembl Gene ENSMUSG00000039910
Gene NameCbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
SynonymsMrg1, p35srj, Msg2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03408
Quality Score
Status
Chromosome10
Chromosomal Location17723218-17725674 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17724400 bp
ZygosityHeterozygous
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]
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
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Creb1 A G 1: 64,576,332 probably null Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Cited2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02167:Cited2 APN 10 17724270 missense probably benign 0.00
IGL03019:Cited2 APN 10 17724162 missense probably benign 0.03
IGL03368:Cited2 APN 10 17724196 missense possibly damaging 0.65
P0023:Cited2 UTSW 10 17724715 missense probably damaging 1.00
R1735:Cited2 UTSW 10 17724046 missense probably damaging 0.97
R7117:Cited2 UTSW 10 17724616 missense possibly damaging 0.94
R7152:Cited2 UTSW 10 17724386 missense probably benign 0.00
Posted On2016-08-02