Incidental Mutation 'IGL02167:Cited2'
ID282741
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 #IGL02167
Quality Score
Status
Chromosome10
Chromosomal Location17723218-17725674 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17724270 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 109 (S109P)
Ref Sequence ENSEMBL: ENSMUSP00000151452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038107] [ENSMUST00000218370] [ENSMUST00000219558]
Predicted Effect probably benign
Transcript: ENSMUST00000038107
AA Change: S109P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000038405
Gene: ENSMUSG00000039910
AA Change: S109P

DomainStartEndE-ValueType
Pfam:CITED 1 269 3.6e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218370
Predicted Effect probably benign
Transcript: ENSMUST00000219558
AA Change: S109P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Cited2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03019:Cited2 APN 10 17724162 missense probably benign 0.03
IGL03368:Cited2 APN 10 17724196 missense possibly damaging 0.65
IGL03408:Cited2 APN 10 17724400 missense possibly damaging 0.68
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 On2015-04-16