Incidental Mutation 'R1673:Ddx1'
ID 187843
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 039709-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1673 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 13269308-13299175 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 13294967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071103] [ENSMUST00000221623]
AlphaFold Q91VR5
Predicted Effect probably null
Transcript: ENSMUST00000071103
SMART Domains Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149

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 probably null
Transcript: ENSMUST00000221623
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,165 (GRCm39) S809G probably benign Het
Ap4b1 T A 3: 103,725,161 (GRCm39) probably null Het
Aqp12 A G 1: 92,934,606 (GRCm39) Q161R possibly damaging Het
Atp8a2 A G 14: 60,028,689 (GRCm39) I926T probably benign Het
Cacna2d1 A T 5: 16,504,988 (GRCm39) N314I probably damaging Het
Cd209d A G 8: 3,927,113 (GRCm39) S81P probably damaging Het
Cdcp1 T A 9: 123,007,086 (GRCm39) K554* probably null Het
Celsr1 A G 15: 85,816,658 (GRCm39) Y1762H probably benign Het
Cklf A G 8: 104,983,983 (GRCm39) T49A possibly damaging Het
Col12a1 T G 9: 79,600,820 (GRCm39) I755L probably benign Het
Cts3 G A 13: 61,715,368 (GRCm39) Q140* probably null Het
Dnah3 C A 7: 119,570,402 (GRCm39) E2262* probably null Het
Dnah5 A G 15: 28,290,294 (GRCm39) N1228S probably benign Het
Dsg1a G A 18: 20,464,561 (GRCm39) R352Q probably damaging Het
Efcab5 A G 11: 77,042,679 (GRCm39) F25L probably damaging Het
Efhd1 T A 1: 87,192,404 (GRCm39) V78D probably damaging Het
Eif5a2 T C 3: 28,847,967 (GRCm39) probably null Het
Elp2 T A 18: 24,744,983 (GRCm39) V101D possibly damaging Het
Enpp2 A T 15: 54,773,592 (GRCm39) probably null Het
F5 A G 1: 164,007,089 (GRCm39) T298A probably damaging Het
Fbxo21 G T 5: 118,146,129 (GRCm39) R584L probably benign Het
Fbxw22 G T 9: 109,211,196 (GRCm39) F368L possibly damaging Het
Gcn1 T C 5: 115,720,356 (GRCm39) I409T probably benign Het
Gm12887 T C 4: 121,473,655 (GRCm39) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm39) Q224* probably null Het
Hdac5 C T 11: 102,089,631 (GRCm39) V860M probably damaging Het
Ino80 G A 2: 119,212,417 (GRCm39) R1302C probably damaging Het
Kcns2 A T 15: 34,838,966 (GRCm39) I110F probably damaging Het
Lrig3 A G 10: 125,846,036 (GRCm39) T822A probably damaging Het
Mapk6 T C 9: 75,302,851 (GRCm39) D214G probably damaging Het
Mcm2 A T 6: 88,869,060 (GRCm39) L264Q probably benign Het
Mpnd A T 17: 56,317,455 (GRCm39) Y64F probably damaging Het
Muc1 T A 3: 89,139,079 (GRCm39) M520K possibly damaging Het
Muc4 T A 16: 32,577,276 (GRCm39) S189T probably benign Het
Myh13 T C 11: 67,242,945 (GRCm39) S953P possibly damaging Het
Ncf2 A T 1: 152,706,230 (GRCm39) M281L probably benign Het
Nipal2 A G 15: 34,648,841 (GRCm39) I116T probably damaging Het
Nptn T C 9: 58,531,015 (GRCm39) L46P probably benign Het
Or2b6 A T 13: 21,823,214 (GRCm39) S160T probably damaging Het
Or4k77 A G 2: 111,199,552 (GRCm39) T192A probably benign Het
Or51ag1 C A 7: 103,155,896 (GRCm39) V86F probably damaging Het
Or5ae1 T A 7: 84,565,325 (GRCm39) F113I probably damaging Het
Pgr A T 9: 8,902,069 (GRCm39) Y534F possibly damaging Het
Pip4k2a A T 2: 18,877,093 (GRCm39) probably null Het
Pkd1l2 C G 8: 117,767,514 (GRCm39) V1259L probably benign Het
Ppp1r12a A G 10: 108,085,426 (GRCm39) E457G probably damaging Het
Rasa4 T A 5: 136,133,491 (GRCm39) V650D probably benign Het
Rem2 C T 14: 54,713,766 (GRCm39) probably benign Het
Rps18-ps6 A T 13: 97,896,868 (GRCm39) Y77N possibly damaging Het
Sdc1 G A 12: 8,840,409 (GRCm39) R62Q possibly damaging Het
Sdk1 A G 5: 141,934,261 (GRCm39) E366G possibly damaging Het
Setd2 T A 9: 110,433,248 (GRCm39) H2406Q probably damaging Het
Slc30a5 A G 13: 100,949,891 (GRCm39) V397A probably benign Het
Slc36a2 A T 11: 55,075,739 (GRCm39) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm39) V334A probably benign Het
Sox8 A T 17: 25,786,456 (GRCm39) Y416N possibly damaging Het
Speg T C 1: 75,387,807 (GRCm39) V1416A possibly damaging Het
Stimate T C 14: 30,586,391 (GRCm39) L72S possibly damaging Het
Stk24 T A 14: 121,574,983 (GRCm39) I42F probably damaging Het
Tasor2 A G 13: 3,634,498 (GRCm39) probably null Het
Tcerg1 T A 18: 42,685,646 (GRCm39) L661Q possibly damaging Het
Tpp1 G A 7: 105,396,880 (GRCm39) R417W probably damaging Het
Trim12a T A 7: 103,955,264 (GRCm39) D153V possibly damaging Het
Trpm2 T C 10: 77,778,778 (GRCm39) N396S probably benign Het
Ttn T C 2: 76,637,427 (GRCm39) K5695R probably damaging Het
Ttn G A 2: 76,640,631 (GRCm39) R11960C probably damaging Het
Tulp3 A C 6: 128,310,906 (GRCm39) probably null Het
Uaca T A 9: 60,779,438 (GRCm39) L1273H probably damaging Het
Usp33 A G 3: 152,073,919 (GRCm39) E255G probably damaging Het
Vmn2r54 T G 7: 12,350,138 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wnt5b A T 6: 119,423,315 (GRCm39) F116L probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null Het
Zbtb12 TCATC TCATCCATC 17: 35,115,286 (GRCm39) probably null Het
Zfp408 G A 2: 91,476,353 (GRCm39) T367I probably damaging Het
Zfp512b G A 2: 181,230,286 (GRCm39) A480V possibly damaging Het
Zfp560 T C 9: 20,258,949 (GRCm39) T638A probably benign Het
Zfp932 G T 5: 110,156,854 (GRCm39) G151V probably damaging Het
Zpbp T C 11: 11,302,696 (GRCm39) K320E probably damaging Het
Zranb2 C T 3: 157,243,277 (GRCm39) P91L probably damaging 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
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
R4183: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'- TGCCTCCTCCTGTAAGACCTCTTTAAAT -3'
(R):5'- GAGTGGTGACCCAATACACAAGAATCAA -3'

Sequencing Primer
(F):5'- tgtaagtctttccttttcctccc -3'
(R):5'- TACACAAGAATCAAAGTTGCCTGG -3'
Posted On 2014-05-09