Incidental Mutation 'IGL01868:Ddx46'
ID 178618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx46
Ensembl Gene ENSMUSG00000021500
Gene Name DEAD box helicase 46
Synonyms 8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, 2200005K02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL01868
Quality Score
Status
Chromosome 13
Chromosomal Location 55782840-55829069 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 55787683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 96 (R96*)
Ref Sequence ENSEMBL: ENSMUSP00000153328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099479] [ENSMUST00000172272] [ENSMUST00000223736]
AlphaFold Q569Z5
Predicted Effect probably null
Transcript: ENSMUST00000099479
AA Change: R96*
SMART Domains Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: R96*

DomainStartEndE-ValueType
low complexity region 9 109 N/A INTRINSIC
Blast:DEXDc 110 348 4e-76 BLAST
DEXDc 391 592 3.27e-49 SMART
HELICc 629 710 1.55e-27 SMART
low complexity region 760 776 N/A INTRINSIC
low complexity region 798 813 N/A INTRINSIC
internal_repeat_1 855 894 6.68e-7 PROSPERO
low complexity region 911 925 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000172272
AA Change: R96*
SMART Domains Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: R96*

DomainStartEndE-ValueType
low complexity region 9 109 N/A INTRINSIC
Blast:DEXDc 110 348 5e-76 BLAST
DEXDc 391 596 8.03e-67 SMART
HELICc 633 714 1.55e-27 SMART
low complexity region 764 780 N/A INTRINSIC
low complexity region 802 817 N/A INTRINSIC
internal_repeat_1 859 898 1.04e-6 PROSPERO
low complexity region 915 929 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000223736
AA Change: R96*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224551
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 member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign Het
Other mutations in Ddx46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Ddx46 APN 13 55,814,145 (GRCm39) nonsense probably null
IGL01137:Ddx46 APN 13 55,817,530 (GRCm39) nonsense probably null
IGL01432:Ddx46 APN 13 55,785,835 (GRCm39) splice site probably benign
IGL01575:Ddx46 APN 13 55,801,996 (GRCm39) splice site probably benign
IGL01673:Ddx46 APN 13 55,800,861 (GRCm39) missense probably damaging 1.00
IGL01945:Ddx46 APN 13 55,802,885 (GRCm39) nonsense probably null
IGL02106:Ddx46 APN 13 55,825,416 (GRCm39) unclassified probably benign
IGL03288:Ddx46 APN 13 55,785,907 (GRCm39) missense unknown
immersion UTSW 13 55,823,892 (GRCm39) missense probably damaging 1.00
steeped UTSW 13 55,798,291 (GRCm39) missense probably damaging 1.00
R0270:Ddx46 UTSW 13 55,821,917 (GRCm39) missense probably benign 0.00
R0631:Ddx46 UTSW 13 55,787,590 (GRCm39) splice site probably benign
R1082:Ddx46 UTSW 13 55,802,909 (GRCm39) missense possibly damaging 0.87
R1502:Ddx46 UTSW 13 55,811,122 (GRCm39) missense possibly damaging 0.89
R2081:Ddx46 UTSW 13 55,821,829 (GRCm39) missense probably benign 0.00
R2256:Ddx46 UTSW 13 55,795,521 (GRCm39) missense possibly damaging 0.50
R4366:Ddx46 UTSW 13 55,811,049 (GRCm39) missense probably benign 0.10
R4856:Ddx46 UTSW 13 55,786,012 (GRCm39) missense unknown
R4886:Ddx46 UTSW 13 55,786,012 (GRCm39) missense unknown
R5001:Ddx46 UTSW 13 55,800,732 (GRCm39) missense probably damaging 0.98
R5152:Ddx46 UTSW 13 55,806,843 (GRCm39) missense probably damaging 1.00
R5258:Ddx46 UTSW 13 55,800,837 (GRCm39) missense possibly damaging 0.95
R5278:Ddx46 UTSW 13 55,823,851 (GRCm39) missense probably damaging 0.97
R5806:Ddx46 UTSW 13 55,811,150 (GRCm39) missense possibly damaging 0.93
R6627:Ddx46 UTSW 13 55,800,748 (GRCm39) missense probably benign 0.15
R6659:Ddx46 UTSW 13 55,817,537 (GRCm39) missense probably damaging 1.00
R6838:Ddx46 UTSW 13 55,787,748 (GRCm39) critical splice donor site probably null
R7235:Ddx46 UTSW 13 55,811,053 (GRCm39) missense probably benign 0.01
R7537:Ddx46 UTSW 13 55,798,291 (GRCm39) missense probably damaging 1.00
R7664:Ddx46 UTSW 13 55,806,864 (GRCm39) missense probably damaging 1.00
R7673:Ddx46 UTSW 13 55,806,972 (GRCm39) missense probably benign 0.01
R7704:Ddx46 UTSW 13 55,821,832 (GRCm39) missense probably benign 0.00
R7943:Ddx46 UTSW 13 55,817,535 (GRCm39) missense probably damaging 1.00
R8188:Ddx46 UTSW 13 55,814,029 (GRCm39) missense possibly damaging 0.95
R8324:Ddx46 UTSW 13 55,811,727 (GRCm39) missense probably damaging 1.00
R8880:Ddx46 UTSW 13 55,814,033 (GRCm39) missense probably benign 0.07
R9059:Ddx46 UTSW 13 55,799,921 (GRCm39) missense probably benign 0.00
R9141:Ddx46 UTSW 13 55,823,892 (GRCm39) missense probably damaging 1.00
R9167:Ddx46 UTSW 13 55,802,915 (GRCm39) missense probably null 1.00
R9199:Ddx46 UTSW 13 55,825,342 (GRCm39) missense probably damaging 1.00
R9295:Ddx46 UTSW 13 55,811,599 (GRCm39) missense possibly damaging 0.95
R9613:Ddx46 UTSW 13 55,787,749 (GRCm39) critical splice donor site probably null
R9703:Ddx46 UTSW 13 55,824,635 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07