Incidental Mutation 'IGL01575:Dppa5a'
ID 91214
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 # IGL01575
Quality Score
Status
Chromosome 9
Chromosomal Location 78274334-78275459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78275062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 80 (I80T)
Ref Sequence ENSEMBL: ENSMUSP00000071881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071991]
AlphaFold Q9CQS7
Predicted Effect possibly damaging
Transcript: ENSMUST00000071991
AA Change: I80T

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071881
Gene: ENSMUSG00000060461
AA Change: I80T

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,175,188 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Boll A G 1: 55,362,807 (GRCm39) probably null Het
Cngb1 G A 8: 95,991,148 (GRCm39) P226S possibly damaging Het
Commd3 G A 2: 18,679,528 (GRCm39) probably null Het
Ddx46 C T 13: 55,801,996 (GRCm39) probably benign Het
Dmrtb1 A G 4: 107,541,265 (GRCm39) I32T probably benign Het
Dnah7a T C 1: 53,466,979 (GRCm39) probably benign Het
Galntl6 T C 8: 58,880,710 (GRCm39) probably benign Het
Hmgcr A G 13: 96,793,103 (GRCm39) Y510H possibly damaging Het
Idua G T 5: 108,829,973 (GRCm39) R505L possibly damaging Het
Ifna15 A G 4: 88,476,044 (GRCm39) F147L probably damaging Het
Itga4 T C 2: 79,118,599 (GRCm39) S433P probably damaging Het
Kcnc1 T C 7: 46,077,523 (GRCm39) Y442H possibly damaging Het
Kmt2d A G 15: 98,744,736 (GRCm39) probably benign Het
Mpp7 A G 18: 7,403,365 (GRCm39) probably benign Het
Or14c39 T C 7: 86,344,501 (GRCm39) V279A probably benign Het
Or5p64 A C 7: 107,854,742 (GRCm39) V201G possibly damaging Het
Or6c75 A G 10: 129,337,436 (GRCm39) I228V probably benign Het
Pam16l T C 10: 43,400,411 (GRCm39) V55A probably benign Het
Phf14 T C 6: 11,990,050 (GRCm39) L693S probably damaging Het
Pkd1 A G 17: 24,792,102 (GRCm39) N1263S probably damaging Het
Rhbdl1 G T 17: 26,055,112 (GRCm39) A32E possibly damaging Het
Samd9l A G 6: 3,376,734 (GRCm39) S176P possibly damaging Het
Scn1a G T 2: 66,103,580 (GRCm39) F1893L probably damaging Het
Serpina3f C A 12: 104,184,699 (GRCm39) P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 (GRCm39) Q294K probably benign Het
Sspo G A 6: 48,435,976 (GRCm39) S1154N probably benign Het
Tdrd6 A G 17: 43,938,871 (GRCm39) S726P probably benign Het
Tiam2 A T 17: 3,504,591 (GRCm39) E24V probably damaging Het
Tmf1 T C 6: 97,152,897 (GRCm39) E392G probably damaging Het
Tns2 T C 15: 102,021,626 (GRCm39) V1089A probably damaging Het
Tspyl1 C A 10: 34,159,086 (GRCm39) N270K probably damaging Het
Usp32 A T 11: 84,913,628 (GRCm39) V901D probably damaging Het
Vldlr A G 19: 27,224,031 (GRCm39) I764V probably benign Het
Wnk2 A G 13: 49,300,152 (GRCm39) V186A probably damaging Het
Zdhhc18 A G 4: 133,341,210 (GRCm39) V221A probably damaging Het
Other mutations in Dppa5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Dppa5a APN 9 78,275,103 (GRCm39) missense probably benign 0.00
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 2013-12-09