Incidental Mutation 'IGL01989:Dppa5a'
ID 182815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dppa5a
Ensembl Gene ENSMUSG00000060461
Gene Name developmental pluripotency associated 5A
Synonyms Dppa5, ecat2, Esg1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL01989
Quality Score
Status
Chromosome 9
Chromosomal Location 78274334-78275459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78275103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 66 (E66D)
Ref Sequence ENSEMBL: ENSMUSP00000071881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071991]
AlphaFold Q9CQS7
Predicted Effect probably benign
Transcript: ENSMUST00000071991
AA Change: E66D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071881
Gene: ENSMUSG00000060461
AA Change: E66D

DomainStartEndE-ValueType
KH 21 91 4.57e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice exhibit normal development and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,862,266 (GRCm39) V8D probably damaging Het
Asb15 A G 6: 24,565,943 (GRCm39) T299A probably damaging Het
Asph A T 4: 9,602,462 (GRCm39) probably benign Het
Cadm3 G A 1: 173,165,578 (GRCm39) probably benign Het
Cep164 G A 9: 45,704,313 (GRCm39) probably benign Het
Ces2c C A 8: 105,576,375 (GRCm39) N129K probably damaging Het
Chdh C A 14: 29,753,688 (GRCm39) P199Q possibly damaging Het
Dnah7b T C 1: 46,328,694 (GRCm39) V3142A probably damaging Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Dock2 G T 11: 34,218,053 (GRCm39) N1172K probably benign Het
F5 A G 1: 164,003,876 (GRCm39) S224G probably benign Het
Fign T C 2: 63,810,794 (GRCm39) T159A probably benign Het
Fsip2 A T 2: 82,824,211 (GRCm39) D6648V probably damaging Het
Gbp2b A T 3: 142,317,201 (GRCm39) E519V probably benign Het
Hdac10 A G 15: 89,009,546 (GRCm39) L462P probably damaging Het
Hecw2 A G 1: 53,879,951 (GRCm39) L1286S probably damaging Het
Hnrnpll A G 17: 80,346,169 (GRCm39) V364A probably benign Het
Hnrnpul2 A G 19: 8,800,992 (GRCm39) T282A probably damaging Het
Il12a T A 3: 68,598,909 (GRCm39) probably benign Het
Insl5 C A 4: 102,883,838 (GRCm39) V28L probably benign Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Lrfn2 A G 17: 49,378,113 (GRCm39) D398G probably damaging Het
Lrp1 C T 10: 127,413,998 (GRCm39) D1137N probably damaging Het
Mettl18 C A 1: 163,823,872 (GRCm39) D64E probably benign Het
Mrpl3 A G 9: 104,948,678 (GRCm39) T245A probably benign Het
Mrps18c C A 5: 100,949,775 (GRCm39) P52Q probably damaging Het
Myh3 A T 11: 66,977,481 (GRCm39) D377V probably damaging Het
N4bp1 C A 8: 87,575,115 (GRCm39) V727L probably damaging Het
Npffr2 A G 5: 89,730,831 (GRCm39) T254A probably benign Het
Nsfl1c C A 2: 151,342,649 (GRCm39) T73K probably damaging Het
Or8a1b C T 9: 37,623,132 (GRCm39) V148I probably damaging Het
Plxna1 C T 6: 89,306,396 (GRCm39) W1442* probably null Het
Serpina3n T A 12: 104,379,750 (GRCm39) M381K probably benign Het
Shank3 C T 15: 89,387,502 (GRCm39) probably benign Het
Smtnl1 T C 2: 84,648,814 (GRCm39) N147D probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Ssh2 A G 11: 77,344,511 (GRCm39) E832G possibly damaging Het
Stxbp1 T C 2: 32,702,076 (GRCm39) D207G probably benign Het
Sult1c2 A T 17: 54,281,055 (GRCm39) M16K probably benign Het
Tmem247 A G 17: 87,225,719 (GRCm39) E53G probably damaging Het
Tmem86a A T 7: 46,703,187 (GRCm39) I105F probably benign Het
Tph2 A G 10: 114,981,921 (GRCm39) S304P probably benign Het
Ttn T C 2: 76,608,883 (GRCm39) D17711G probably damaging Het
Urb1 A T 16: 90,566,474 (GRCm39) probably benign Het
Vcan T A 13: 89,837,478 (GRCm39) I1729L possibly damaging Het
Vmn2r90 T A 17: 17,933,494 (GRCm39) Y351* probably null Het
Wfdc5 C T 2: 164,020,651 (GRCm39) probably null Het
Wnt3 G A 11: 103,703,233 (GRCm39) D239N probably benign Het
Zbtb8b T A 4: 129,326,181 (GRCm39) E295V probably damaging Het
Zfp458 T C 13: 67,407,691 (GRCm39) T52A probably damaging Het
Other mutations in Dppa5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Dppa5a APN 9 78,275,062 (GRCm39) missense possibly damaging 0.60
IGL02689:Dppa5a APN 9 78,275,113 (GRCm39) missense probably damaging 1.00
R1446:Dppa5a UTSW 9 78,275,071 (GRCm39) missense probably benign 0.00
R4120:Dppa5a UTSW 9 78,275,137 (GRCm39) missense possibly damaging 0.61
R5507:Dppa5a UTSW 9 78,275,353 (GRCm39) missense possibly damaging 0.82
R7194:Dppa5a UTSW 9 78,275,002 (GRCm39) critical splice donor site probably null
R8929:Dppa5a UTSW 9 78,275,165 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07