Incidental Mutation 'IGL02167:Cited2'
ID 282741
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 # IGL02167
Quality Score
Status
Chromosome 10
Chromosomal Location 17598966-17601422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17600018 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O35740
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: 23,122,721 (GRCm39) probably benign Het
Cacna1f T C X: 7,482,258 (GRCm39) Y581H probably damaging Het
Camsap1 C T 2: 25,824,312 (GRCm39) R1416H probably damaging Het
Ccdc117 T C 11: 5,481,333 (GRCm39) E266G possibly damaging Het
Ccdc9 A T 7: 16,018,284 (GRCm39) L8* probably null Het
Cnot4 T C 6: 35,033,159 (GRCm39) D286G possibly damaging Het
Col5a1 T C 2: 27,908,568 (GRCm39) I52T probably benign Het
Cry2 T C 2: 92,264,166 (GRCm39) N68S possibly damaging Het
Cul4a T C 8: 13,172,826 (GRCm39) F153S probably damaging Het
Ddr1 T C 17: 36,000,963 (GRCm39) S261G possibly damaging Het
Depdc5 G A 5: 33,061,145 (GRCm39) R324Q probably damaging Het
Dmgdh A G 13: 93,857,135 (GRCm39) probably benign Het
Epha8 A T 4: 136,658,405 (GRCm39) M990K probably damaging Het
Gpr137c G T 14: 45,517,412 (GRCm39) G383C probably damaging Het
Hydin T A 8: 111,145,055 (GRCm39) I802N possibly damaging Het
Ifne A G 4: 88,798,065 (GRCm39) Y118H possibly damaging Het
Kansl2 T C 15: 98,431,396 (GRCm39) probably benign Het
Lig4 T A 8: 10,021,821 (GRCm39) N653I probably benign Het
Nagk A G 6: 83,778,088 (GRCm39) D246G probably damaging Het
Nav1 A G 1: 135,398,699 (GRCm39) S628P probably damaging Het
Ncoa3 A G 2: 165,912,056 (GRCm39) Y1401C probably damaging Het
Ndufa9 A G 6: 126,821,748 (GRCm39) probably benign Het
Nynrin G T 14: 56,100,792 (GRCm39) R194L probably damaging Het
Or10a4 A T 7: 106,696,868 (GRCm39) R65S probably benign Het
Or10ag53 G A 2: 87,082,542 (GRCm39) C87Y probably benign Het
Or13a17 T A 7: 140,271,664 (GRCm39) V282D probably damaging Het
Orc2 A T 1: 58,522,798 (GRCm39) probably benign Het
Oxgr1 T A 14: 120,259,342 (GRCm39) R288S probably damaging Het
Pgap6 T C 17: 26,338,045 (GRCm39) S450P probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prox1 T C 1: 189,893,477 (GRCm39) N323D probably benign Het
Prrt1 A C 17: 34,850,829 (GRCm39) E215A possibly damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Sardh G T 2: 27,081,987 (GRCm39) N846K probably damaging Het
Slc38a8 T A 8: 120,214,099 (GRCm39) T248S probably benign Het
Slc6a18 T C 13: 73,814,591 (GRCm39) probably null Het
Smcp T C 3: 92,491,506 (GRCm39) T114A unknown Het
Trpv1 A G 11: 73,145,623 (GRCm39) N754D probably damaging Het
Txnrd1 A T 10: 82,717,745 (GRCm39) H243L probably benign Het
Wdfy3 T C 5: 102,109,023 (GRCm39) M125V probably damaging Het
Wnk2 T C 13: 49,224,601 (GRCm39) probably null Het
Wrn T C 8: 33,807,583 (GRCm39) M292V probably damaging Het
Zbtb17 T C 4: 141,189,140 (GRCm39) L20P possibly damaging Het
Zfp608 T C 18: 55,121,296 (GRCm39) H97R probably damaging Het
Zfp68 T A 5: 138,604,629 (GRCm39) M565L probably benign Het
Zfp687 T C 3: 94,917,841 (GRCm39) T644A probably benign Het
Zfp777 C T 6: 48,021,460 (GRCm39) G54D probably damaging Het
Other mutations in Cited2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-04-16