Incidental Mutation 'R4183:Ddx1'
ID 319832
Institutional Source Beutler Lab
Gene Symbol Ddx1
Ensembl Gene ENSMUSG00000037149
Gene Name DEAD box helicase 1
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 1
MMRRC Submission 041019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4183 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 13269308-13299175 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 13281504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 353 (L353*)
Ref Sequence ENSEMBL: ENSMUSP00000065987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071103]
AlphaFold Q91VR5
Predicted Effect probably null
Transcript: ENSMUST00000071103
AA Change: L353*
SMART Domains Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: L353*

DomainStartEndE-ValueType
DEXDc 21 444 1.95e-47 SMART
SPRY 130 246 1.91e-34 SMART
HELICc 520 610 8.28e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221028
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 T C 8: 123,626,415 (GRCm39) I198V possibly damaging Het
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Arpc2 T A 1: 74,287,322 (GRCm39) N31K probably damaging Het
Atp11a T A 8: 12,866,990 (GRCm39) V139D possibly damaging Het
Bicral T C 17: 47,124,955 (GRCm39) K615E probably damaging Het
Ccdc27 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 4: 154,120,763 (GRCm39) probably benign Het
Chrnb1 T C 11: 69,677,922 (GRCm39) M277V possibly damaging Het
Csmd1 C T 8: 15,960,464 (GRCm39) C3317Y probably damaging Het
Degs2 T C 12: 108,658,358 (GRCm39) K207R probably damaging Het
Fam167a T C 14: 63,689,769 (GRCm39) V22A probably benign Het
Fam186a G A 15: 99,831,566 (GRCm39) probably benign Het
Gprc5b T C 7: 118,583,749 (GRCm39) D40G probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Inpp5j A G 11: 3,451,134 (GRCm39) I505T probably damaging Het
Lurap1l G A 4: 80,872,095 (GRCm39) S196N probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mapkbp1 A G 2: 119,848,346 (GRCm39) D632G probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mdga1 A G 17: 30,188,964 (GRCm39) V33A unknown Het
Me3 A G 7: 89,501,038 (GRCm39) D583G probably benign Het
Mndal T A 1: 173,703,337 (GRCm39) T23S possibly damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Nat10 A G 2: 103,570,158 (GRCm39) L395P probably damaging Het
Naxd T C 8: 11,552,757 (GRCm39) V59A probably damaging Het
Nbeal2 A T 9: 110,465,743 (GRCm39) V876E probably benign Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Or4a39 T C 2: 89,236,935 (GRCm39) T163A probably benign Het
Or51v8 T C 7: 103,320,178 (GRCm39) Y20C possibly damaging Het
Or8g50 A G 9: 39,648,344 (GRCm39) T78A probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk4 C T 10: 80,160,845 (GRCm39) R327Q probably benign Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Ranbp2 T C 10: 58,301,488 (GRCm39) F687L possibly damaging Het
Rb1 A G 14: 73,435,966 (GRCm39) probably null Het
Tfpi2 C A 6: 3,963,926 (GRCm39) V51L probably damaging Het
Tnn T C 1: 159,924,925 (GRCm39) D1143G probably damaging Het
Ttn A G 2: 76,541,586 (GRCm39) M25473T probably benign Het
Vmn1r201 A G 13: 22,659,022 (GRCm39) I79V probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wdr25 T A 12: 108,993,257 (GRCm39) F491Y probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Other mutations in Ddx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Ddx1 APN 12 13,295,691 (GRCm39) missense probably damaging 1.00
IGL00725:Ddx1 APN 12 13,277,460 (GRCm39) splice site probably benign
IGL00958:Ddx1 APN 12 13,290,849 (GRCm39) splice site probably null
IGL01786:Ddx1 APN 12 13,279,137 (GRCm39) missense probably benign
IGL02832:Ddx1 APN 12 13,277,318 (GRCm39) nonsense probably null
IGL02983:Ddx1 APN 12 13,273,863 (GRCm39) missense probably damaging 1.00
R0201:Ddx1 UTSW 12 13,273,809 (GRCm39) missense probably damaging 1.00
R0931:Ddx1 UTSW 12 13,287,818 (GRCm39) splice site probably benign
R1434:Ddx1 UTSW 12 13,287,232 (GRCm39) missense probably benign 0.01
R1558:Ddx1 UTSW 12 13,289,542 (GRCm39) missense probably damaging 1.00
R1673:Ddx1 UTSW 12 13,294,967 (GRCm39) critical splice donor site probably null
R1854:Ddx1 UTSW 12 13,279,332 (GRCm39) missense probably benign 0.19
R2910:Ddx1 UTSW 12 13,281,441 (GRCm39) splice site probably null
R2911:Ddx1 UTSW 12 13,281,441 (GRCm39) splice site probably null
R4181:Ddx1 UTSW 12 13,281,504 (GRCm39) nonsense probably null
R4182:Ddx1 UTSW 12 13,281,504 (GRCm39) nonsense probably null
R4231:Ddx1 UTSW 12 13,273,858 (GRCm39) missense possibly damaging 0.74
R4234:Ddx1 UTSW 12 13,273,858 (GRCm39) missense possibly damaging 0.74
R4235:Ddx1 UTSW 12 13,273,858 (GRCm39) missense possibly damaging 0.74
R4243:Ddx1 UTSW 12 13,290,910 (GRCm39) nonsense probably null
R4717:Ddx1 UTSW 12 13,290,888 (GRCm39) missense probably damaging 1.00
R4821:Ddx1 UTSW 12 13,289,148 (GRCm39) missense probably damaging 1.00
R5032:Ddx1 UTSW 12 13,273,993 (GRCm39) missense probably damaging 1.00
R5082:Ddx1 UTSW 12 13,270,436 (GRCm39) nonsense probably null
R5528:Ddx1 UTSW 12 13,279,295 (GRCm39) missense probably damaging 1.00
R5997:Ddx1 UTSW 12 13,287,800 (GRCm39) missense probably damaging 1.00
R6398:Ddx1 UTSW 12 13,295,721 (GRCm39) missense probably damaging 1.00
R6891:Ddx1 UTSW 12 13,286,096 (GRCm39) missense probably benign 0.25
R7085:Ddx1 UTSW 12 13,279,356 (GRCm39) missense probably damaging 1.00
R7125:Ddx1 UTSW 12 13,293,864 (GRCm39) missense probably benign 0.18
R7307:Ddx1 UTSW 12 13,273,960 (GRCm39) missense probably damaging 1.00
R7388:Ddx1 UTSW 12 13,275,456 (GRCm39) missense probably null 1.00
R7393:Ddx1 UTSW 12 13,280,354 (GRCm39) missense probably benign 0.03
R7460:Ddx1 UTSW 12 13,281,440 (GRCm39) splice site probably null
R8310:Ddx1 UTSW 12 13,274,280 (GRCm39) intron probably benign
R8479:Ddx1 UTSW 12 13,270,749 (GRCm39) missense probably damaging 0.97
R8712:Ddx1 UTSW 12 13,293,859 (GRCm39) critical splice donor site probably benign
R8790:Ddx1 UTSW 12 13,273,993 (GRCm39) missense probably damaging 1.00
R8826:Ddx1 UTSW 12 13,277,332 (GRCm39) missense probably damaging 1.00
R9120:Ddx1 UTSW 12 13,275,458 (GRCm39) missense possibly damaging 0.89
R9214:Ddx1 UTSW 12 13,286,119 (GRCm39) missense probably benign
R9400:Ddx1 UTSW 12 13,273,703 (GRCm39) missense probably damaging 1.00
X0011:Ddx1 UTSW 12 13,279,416 (GRCm39) missense probably damaging 1.00
X0028:Ddx1 UTSW 12 13,293,867 (GRCm39) missense probably benign 0.00
Z1177:Ddx1 UTSW 12 13,279,260 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TAATCCCGTGTCAGGACCCTTG -3'
(R):5'- GACTTTGAGGACGCTTTGC -3'

Sequencing Primer
(F):5'- ATCAGATGCTCAAGTCCTTGG -3'
(R):5'- CGCTGATGGGCACTATTTCAGC -3'
Posted On 2015-06-10