Incidental Mutation 'IGL02527:Dppa4'
ID297161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dppa4
Ensembl Gene ENSMUSG00000058550
Gene Namedevelopmental pluripotency associated 4
Synonyms2410091M23Rik, ECAT15-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02527
Quality Score
Status
Chromosome16
Chromosomal Location48283733-48294237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 48289093 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 66 (R66L)
Ref Sequence ENSEMBL: ENSMUSP00000093748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050705] [ENSMUST00000096045]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050705
AA Change: R66L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093748
Gene: ENSMUSG00000058550
AA Change: R66L

DomainStartEndE-ValueType
low complexity region 23 43 N/A INTRINSIC
low complexity region 125 142 N/A INTRINSIC
Pfam:DCR 169 236 1.2e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096045
AA Change: R66L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550
AA Change: R66L

DomainStartEndE-ValueType
low complexity region 23 43 N/A INTRINSIC
low complexity region 70 80 N/A INTRINSIC
Blast:SAP 81 115 3e-9 BLAST
Pfam:Dppa2_A 123 158 1.2e-3 PFAM
Pfam:Dppa2_A 173 219 1.1e-9 PFAM
Pfam:DCR 221 287 1.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231359
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 nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal and postnatal lethality, abnormal lung morphology, skeletal defects, and a maternal effect on female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Cand1 A T 10: 119,206,807 M1126K probably damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Dppa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Dppa4 APN 16 48291083 missense possibly damaging 0.78
R0138:Dppa4 UTSW 16 48291062 missense probably benign 0.25
R0346:Dppa4 UTSW 16 48289324 splice site probably benign
R1216:Dppa4 UTSW 16 48292980 missense possibly damaging 0.91
R1453:Dppa4 UTSW 16 48291233 missense probably damaging 1.00
R1852:Dppa4 UTSW 16 48287884 missense probably damaging 0.99
R4452:Dppa4 UTSW 16 48289336 missense probably benign 0.38
R5133:Dppa4 UTSW 16 48292971 missense probably benign 0.18
R5616:Dppa4 UTSW 16 48291030 missense probably damaging 1.00
R5665:Dppa4 UTSW 16 48291015 missense probably benign
R5947:Dppa4 UTSW 16 48291108 missense possibly damaging 0.78
R5993:Dppa4 UTSW 16 48289346 nonsense probably null
R6018:Dppa4 UTSW 16 48289127 nonsense probably null
R6701:Dppa4 UTSW 16 48291311 nonsense probably null
R6719:Dppa4 UTSW 16 48287884 missense probably damaging 0.99
Posted On2015-04-16