Incidental Mutation 'IGL03019:Cited2'
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ID407993
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 #IGL03019
Quality Score
Status
Chromosome10
Chromosomal Location17723218-17725674 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 17724162 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 73 (M73L)
Ref Sequence ENSEMBL: ENSMUSP00000151452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038107] [ENSMUST00000218370] [ENSMUST00000219558]
Predicted Effect probably benign
Transcript: ENSMUST00000038107
AA Change: M73L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000038405
Gene: ENSMUSG00000039910
AA Change: M73L

DomainStartEndE-ValueType
Pfam:CITED 1 269 3.6e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218370
Predicted Effect probably benign
Transcript: ENSMUST00000219558
AA Change: M73L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T A 9: 121,909,182 Y208N probably benign Het
Agap2 T C 10: 127,091,562 probably benign Het
Arhgap21 A T 2: 20,861,063 I914N probably damaging Het
Brsk1 T C 7: 4,710,497 probably benign Het
Cachd1 A T 4: 100,952,085 T256S probably damaging Het
Ccdc171 G T 4: 83,795,308 G1195W probably damaging Het
Cept1 A G 3: 106,504,641 M339T probably damaging Het
Cir1 T C 2: 73,286,348 K223E unknown Het
Drg2 T C 11: 60,456,595 Y37H probably damaging Het
Drosha T C 15: 12,846,099 L440P probably damaging Het
Dsc1 G A 18: 20,088,364 P685S probably benign Het
Epha1 T A 6: 42,362,752 D639V probably damaging Het
Fam212b G T 3: 105,716,371 M1I probably null Het
Izumo4 A G 10: 80,703,846 probably benign Het
Kcnmb2 A T 3: 32,198,150 R167W probably damaging Het
Lce1k A C 3: 92,806,779 C33G unknown Het
Map7 C T 10: 20,267,355 P417S unknown Het
Myo18b A G 5: 112,692,397 V2510A probably benign Het
Rubcn A T 16: 32,826,707 V787D probably damaging Het
Spen A T 4: 141,478,916 L800Q unknown Het
Zfp276 C A 8: 123,267,934 T580N probably damaging Het
Zfp354c G T 11: 50,817,194 P60T probably damaging Het
Other mutations in Cited2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02167:Cited2 APN 10 17724270 missense probably benign 0.00
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 On2016-08-02