Incidental Mutation 'R9628:Dppa4'
ID 725308
Institutional Source Beutler Lab
Gene Symbol Dppa4
Ensembl Gene ENSMUSG00000058550
Gene Name developmental pluripotency associated 4
Synonyms ECAT15-1, 2410091M23Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9628 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 48104096-48114600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48111672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 219 (V219A)
Ref Sequence ENSEMBL: ENSMUSP00000093749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050705] [ENSMUST00000096045]
AlphaFold Q8CCG4
Predicted Effect probably benign
Transcript: ENSMUST00000050705
AA Change: V167A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093748
Gene: ENSMUSG00000058550
AA Change: V167A

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: V219A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550
AA Change: V219A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,193 (GRCm39) N635D probably damaging Het
Ankrd13c G C 3: 157,653,313 (GRCm39) K50N probably benign Het
Arhgef38 T C 3: 132,838,025 (GRCm39) Y635C unknown Het
Avl9 T A 6: 56,713,460 (GRCm39) Y239* probably null Het
C2cd3 T A 7: 100,097,961 (GRCm39) H1449Q Het
Ccdc141 G A 2: 76,844,838 (GRCm39) P1410S probably damaging Het
Ccz1 G A 5: 143,925,043 (GRCm39) T471M possibly damaging Het
Cdh26 T C 2: 178,083,213 (GRCm39) S27P Het
Cdk11b T G 4: 155,734,154 (GRCm39) D756E unknown Het
Celsr3 C A 9: 108,703,559 (GRCm39) S14* probably null Het
Cntrob T C 11: 69,213,782 (GRCm39) T3A possibly damaging Het
Cracd A G 5: 77,004,923 (GRCm39) E428G unknown Het
Csde1 T C 3: 102,962,825 (GRCm39) V738A probably benign Het
Dazap1 T C 10: 80,118,999 (GRCm39) Y230H unknown Het
Dip2a A G 10: 76,142,993 (GRCm39) I264T probably damaging Het
Dleu7 C A 14: 62,530,144 (GRCm39) A86S possibly damaging Het
Dnmbp T A 19: 43,858,646 (GRCm39) D132V probably damaging Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Egr4 T C 6: 85,489,292 (GRCm39) Y256C probably benign Het
Ess2 A T 16: 17,720,757 (GRCm39) M363K probably damaging Het
Fam124a A G 14: 62,825,010 (GRCm39) E168G probably damaging Het
Gata4 T C 14: 63,478,545 (GRCm39) Y18C probably damaging Het
Gckr C A 5: 31,457,934 (GRCm39) A147D probably damaging Het
H1f8 G A 6: 115,924,700 (GRCm39) V69I probably damaging Het
Hook1 T C 4: 95,901,560 (GRCm39) L506P probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Larp1b T C 3: 40,916,103 (GRCm39) probably null Het
Ldhb T C 6: 142,439,862 (GRCm39) E226G probably damaging Het
Lpar5 T G 6: 125,058,948 (GRCm39) V223G probably damaging Het
Lrrc37a A G 11: 103,394,330 (GRCm39) V365A probably benign Het
Lrrtm3 T C 10: 63,923,776 (GRCm39) K464E probably damaging Het
Ly75 A G 2: 60,158,285 (GRCm39) I1000T probably damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nphp4 T C 4: 152,568,966 (GRCm39) L35P probably damaging Het
Nptx2 G A 5: 144,490,261 (GRCm39) R230H probably benign Het
Ntsr1 G A 2: 180,183,274 (GRCm39) R328H probably damaging Het
Or1e25 G A 11: 73,493,864 (GRCm39) V153I probably benign Het
Or4c111 A G 2: 88,843,670 (GRCm39) V246A probably damaging Het
Or8b1 T G 9: 38,399,871 (GRCm39) L182R probably benign Het
Padi6 G A 4: 140,464,626 (GRCm39) T201I probably damaging Het
Plscr4 C T 9: 92,354,985 (GRCm39) T13I possibly damaging Het
Ppp6r1 G A 7: 4,636,112 (GRCm39) A782V probably benign Het
Rab18 G A 18: 6,788,647 (GRCm39) V205M probably benign Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Scaf11 A T 15: 96,317,398 (GRCm39) I722N probably benign Het
Slc17a4 A G 13: 24,089,512 (GRCm39) V135A possibly damaging Het
Slc30a5 A G 13: 100,961,422 (GRCm39) probably null Het
Slc5a6 T C 5: 31,197,746 (GRCm39) Y321C probably benign Het
Spag7 A T 11: 70,555,186 (GRCm39) D178E probably benign Het
Swsap1 T G 9: 21,867,172 (GRCm39) S39A Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tor1aip1 C A 1: 155,893,320 (GRCm39) G276* probably null Het
Usp47 G A 7: 111,705,999 (GRCm39) M1220I probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r35 A G 7: 7,815,702 (GRCm39) V489A probably benign Het
Wif1 T C 10: 120,932,549 (GRCm39) V309A possibly damaging Het
Xpo4 T C 14: 57,842,630 (GRCm39) N434D probably damaging Het
Zfp462 A T 4: 55,009,423 (GRCm39) H463L probably benign Het
Other mutations in Dppa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Dppa4 APN 16 48,111,446 (GRCm39) missense possibly damaging 0.78
IGL02527:Dppa4 APN 16 48,109,456 (GRCm39) missense possibly damaging 0.93
R0138:Dppa4 UTSW 16 48,111,425 (GRCm39) missense probably benign 0.25
R0346:Dppa4 UTSW 16 48,109,687 (GRCm39) splice site probably benign
R1216:Dppa4 UTSW 16 48,113,343 (GRCm39) missense possibly damaging 0.91
R1453:Dppa4 UTSW 16 48,111,596 (GRCm39) missense probably damaging 1.00
R1852:Dppa4 UTSW 16 48,108,247 (GRCm39) missense probably damaging 0.99
R4452:Dppa4 UTSW 16 48,109,699 (GRCm39) missense probably benign 0.38
R5133:Dppa4 UTSW 16 48,113,334 (GRCm39) missense probably benign 0.18
R5616:Dppa4 UTSW 16 48,111,393 (GRCm39) missense probably damaging 1.00
R5665:Dppa4 UTSW 16 48,111,378 (GRCm39) missense probably benign
R5947:Dppa4 UTSW 16 48,111,471 (GRCm39) missense possibly damaging 0.78
R5993:Dppa4 UTSW 16 48,109,709 (GRCm39) nonsense probably null
R6018:Dppa4 UTSW 16 48,109,490 (GRCm39) nonsense probably null
R6701:Dppa4 UTSW 16 48,111,674 (GRCm39) nonsense probably null
R6719:Dppa4 UTSW 16 48,108,247 (GRCm39) missense probably damaging 0.99
R8881:Dppa4 UTSW 16 48,108,299 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGTGCCAGAGGAGCAGATAC -3'
(R):5'- CCGAGTAGCTCATAGAAATTCAAG -3'

Sequencing Primer
(F):5'- AGATACCTGCCCTCATTGACC -3'
(R):5'- GTGCATATTCCAGCACTCAGGAG -3'
Posted On 2022-09-12