Incidental Mutation 'R5993:Dppa4'
ID 480969
Institutional Source Beutler Lab
Gene Symbol Dppa4
Ensembl Gene ENSMUSG00000058550
Gene Name developmental pluripotency associated 4
Synonyms ECAT15-1, 2410091M23Rik
MMRRC Submission 044172-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5993 (G1)
Quality Score 140.008
Status Not validated
Chromosome 16
Chromosomal Location 48104096-48114600 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 48109709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 110 (R110*)
Ref Sequence ENSEMBL: ENSMUSP00000093749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050705] [ENSMUST00000096045]
AlphaFold Q8CCG4
Predicted Effect probably benign
Transcript: ENSMUST00000050705
SMART Domains Protein: ENSMUSP00000093748
Gene: ENSMUSG00000058550

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 null
Transcript: ENSMUST00000096045
AA Change: R110*
SMART Domains Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550
AA Change: R110*

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
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
Adamts20 G T 15: 94,236,604 (GRCm39) N805K probably damaging Het
Add1 A C 5: 34,758,877 (GRCm39) S64R probably damaging Het
Alas1 A G 9: 106,111,328 (GRCm39) F613L probably benign Het
Ankrd17 A T 5: 90,487,531 (GRCm39) probably benign Het
Anks3 C T 16: 4,776,001 (GRCm39) G67D probably damaging Het
Aspm C T 1: 139,407,269 (GRCm39) T2052I probably benign Het
Atp8b4 C T 2: 126,245,154 (GRCm39) V332I probably benign Het
Bin2 CGGAGCTGA C 15: 100,542,901 (GRCm39) probably null Het
Bpifb3 T A 2: 153,771,234 (GRCm39) M382K probably benign Het
Ccdc149 C T 5: 52,560,117 (GRCm39) R246Q probably damaging Het
Ccdc57 T C 11: 120,785,550 (GRCm39) K462E possibly damaging Het
Cux1 T C 5: 136,392,125 (GRCm39) T9A probably benign Het
Cyp2c23 A G 19: 44,000,799 (GRCm39) Y362H probably damaging Het
D430041D05Rik A G 2: 103,998,412 (GRCm39) I998T probably damaging Het
Dclre1a A C 19: 56,531,169 (GRCm39) Y726D probably damaging Het
Dnah5 T C 15: 28,299,372 (GRCm39) V1578A probably benign Het
Drc7 T A 8: 95,800,820 (GRCm39) V614E probably benign Het
Garin2 C A 12: 78,762,210 (GRCm39) N12K probably damaging Het
Gcc1 G A 6: 28,424,851 (GRCm39) probably null Het
Greb1l G A 18: 10,544,455 (GRCm39) D1350N probably benign Het
Kcnc1 G A 7: 46,076,956 (GRCm39) V253M probably damaging Het
Krt78 T A 15: 101,858,884 (GRCm39) I323F probably damaging Het
Man2b2 A G 5: 36,978,324 (GRCm39) V320A probably benign Het
Mphosph9 A T 5: 124,454,161 (GRCm39) F112Y probably benign Het
Mrc1 A G 2: 14,310,138 (GRCm39) T800A probably damaging Het
Mroh1 C A 15: 76,330,880 (GRCm39) A1197E probably damaging Het
Nlrp10 A T 7: 108,526,220 (GRCm39) H39Q probably benign Het
Nop2 C T 6: 125,120,982 (GRCm39) T588I probably benign Het
Oxld1 A G 11: 120,347,835 (GRCm39) S121P probably benign Het
Pakap A G 4: 57,855,273 (GRCm39) K444E possibly damaging Het
Prox1 T A 1: 189,894,436 (GRCm39) D3V probably damaging Het
Ptk7 T C 17: 46,876,296 (GRCm39) T1052A probably benign Het
Rhot2 T A 17: 26,060,085 (GRCm39) T299S probably benign Het
Rhov A G 2: 119,100,533 (GRCm39) F235L probably damaging Het
Runx1t1 A T 4: 13,841,863 (GRCm39) R158S probably damaging Het
Runx1t1 A T 4: 13,875,490 (GRCm39) E431D probably benign Het
Sema3e A G 5: 14,274,307 (GRCm39) E186G probably damaging Het
Sema5b T A 16: 35,466,572 (GRCm39) L158H probably damaging Het
Serpina3j A G 12: 104,280,946 (GRCm39) T40A probably benign Het
Shroom3 A T 5: 93,088,047 (GRCm39) S185C probably damaging Het
Skint6 A T 4: 112,666,276 (GRCm39) V1183D probably benign Het
Smg1 A G 7: 117,739,732 (GRCm39) V3405A probably benign Het
Supt16 C A 14: 52,415,791 (GRCm39) R357L probably damaging Het
Thrap3 A T 4: 126,069,253 (GRCm39) probably null Het
Topaz1 T C 9: 122,578,104 (GRCm39) L338S probably benign Het
Ttll3 T A 6: 113,374,992 (GRCm39) Y139* probably null Het
Ttn T G 2: 76,626,251 (GRCm39) D6641A probably damaging Het
Wwc1 T C 11: 35,743,163 (GRCm39) D886G probably benign Het
Zc3h7a T A 16: 10,968,526 (GRCm39) K484N probably damaging 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
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
R9628:Dppa4 UTSW 16 48,111,672 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAACCTGATTCACCGAGATG -3'
(R):5'- CTGCCACTATCCCTTAAAGTGC -3'

Sequencing Primer
(F):5'- GAACCTGATTCACCGAGATGTTTTG -3'
(R):5'- CAAAGTTCCATGCAGGGCTTG -3'
Posted On 2017-06-26