Incidental Mutation 'R5152:Ddx46'
ID 395465
Institutional Source Beutler Lab
Gene Symbol Ddx46
Ensembl Gene ENSMUSG00000021500
Gene Name DEAD box helicase 46
Synonyms 8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, 2200005K02Rik
MMRRC Submission 042734-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5152 (G1)
Quality Score 212
Status Validated
Chromosome 13
Chromosomal Location 55782840-55829069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55806843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 492 (L492P)
Ref Sequence ENSEMBL: ENSMUSP00000153328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099479] [ENSMUST00000172272] [ENSMUST00000223736]
AlphaFold Q569Z5
Predicted Effect probably damaging
Transcript: ENSMUST00000099479
AA Change: L492P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: L492P

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 damaging
Transcript: ENSMUST00000172272
AA Change: L492P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: L492P

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 damaging
Transcript: ENSMUST00000223736
AA Change: L492P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224551
Meta Mutation Damage Score 0.9695 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 99% (83/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,846 (GRCm39) S1503P probably benign Het
Actn3 C A 19: 4,913,572 (GRCm39) V620F probably damaging Het
Adamtsl3 A G 7: 82,223,752 (GRCm39) K252E probably benign Het
Adgrg1 A G 8: 95,736,373 (GRCm39) Y509C probably damaging Het
Arhgef2 G A 3: 88,536,875 (GRCm39) probably null Het
Bod1l T C 5: 41,973,886 (GRCm39) E2476G probably benign Het
Capn3 T C 2: 120,331,811 (GRCm39) probably benign Het
Catsperz T C 19: 6,900,705 (GRCm39) T147A probably benign Het
Cc2d1b C A 4: 108,483,283 (GRCm39) A289E probably benign Het
Ccdc170 A C 10: 4,511,107 (GRCm39) H722P probably damaging Het
Cdk13 C A 13: 17,893,110 (GRCm39) A1358S probably benign Het
Cntn6 T A 6: 104,546,074 (GRCm39) probably benign Het
Coch A G 12: 51,642,225 (GRCm39) N66D probably benign Het
Col12a1 A G 9: 79,564,030 (GRCm39) S1732P probably damaging Het
Copa T A 1: 171,945,628 (GRCm39) V917E probably benign Het
Csmd2 C A 4: 128,445,828 (GRCm39) N3299K probably benign Het
Cyp2c67 A T 19: 39,627,132 (GRCm39) F233I probably benign Het
D630039A03Rik T A 4: 57,910,434 (GRCm39) H126L probably damaging Het
Dpysl3 C T 18: 43,571,145 (GRCm39) G43D probably benign Het
Enpp5 C T 17: 44,392,024 (GRCm39) P151L probably damaging Het
Exoc3l4 T C 12: 111,397,327 (GRCm39) probably benign Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Flg2 C A 3: 93,122,284 (GRCm39) P1485T unknown Het
Fmo5 A G 3: 97,549,078 (GRCm39) Y242C probably benign Het
Fsip2 C A 2: 82,808,916 (GRCm39) T1745N probably benign Het
Gata4 T A 14: 63,478,570 (GRCm39) N10Y probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm4787 A C 12: 81,425,451 (GRCm39) S236A probably benign Het
Golga7 A C 8: 23,735,965 (GRCm39) S94A probably benign Het
Gpbp1 A G 13: 111,589,815 (GRCm39) probably benign Het
Grm1 A G 10: 10,955,619 (GRCm39) Y222H probably benign Het
Gstcd A G 3: 132,790,717 (GRCm39) Y17H possibly damaging Het
Hephl1 C A 9: 14,991,481 (GRCm39) D586Y probably damaging Het
Hpn C A 7: 30,799,261 (GRCm39) V35L probably damaging Het
Il23r T A 6: 67,400,725 (GRCm39) N535I probably damaging Het
Inpp4a T C 1: 37,397,616 (GRCm39) I45T possibly damaging Het
Itgae G C 11: 73,021,821 (GRCm39) G901R probably damaging Het
Kif28 T C 1: 179,530,103 (GRCm39) D686G probably damaging Het
Kit A G 5: 75,781,507 (GRCm39) E312G probably benign Het
Lamb2 C A 9: 108,364,937 (GRCm39) S1230R probably benign Het
Lars1 A T 18: 42,361,842 (GRCm39) D588E possibly damaging Het
Lgr4 T A 2: 109,830,948 (GRCm39) F292I probably damaging Het
Lmf1 C T 17: 25,874,493 (GRCm39) S458L probably damaging Het
Lpin2 T A 17: 71,552,154 (GRCm39) C787S probably damaging Het
Ms4a4a A C 19: 11,365,676 (GRCm39) I138L probably benign Het
Mterf1a A T 5: 3,940,984 (GRCm39) F295I probably damaging Het
Muc4 A T 16: 32,577,432 (GRCm39) K241* probably null Het
Muc5b T C 7: 141,419,268 (GRCm39) F4017S possibly damaging Het
Nfkbil1 T C 17: 35,440,384 (GRCm39) probably benign Het
Or10d5j T C 9: 39,868,202 (GRCm39) T22A probably benign Het
Or4x6 A G 2: 89,949,465 (GRCm39) L159P probably damaging Het
Or8g21 A T 9: 38,906,473 (GRCm39) V86E possibly damaging Het
Osgep T C 14: 51,155,315 (GRCm39) D81G probably damaging Het
Otos A G 1: 92,572,116 (GRCm39) F70S probably damaging Het
Pcdhb2 T A 18: 37,429,179 (GRCm39) V384D probably damaging Het
Ppp1r10 C T 17: 36,240,144 (GRCm39) P514S probably damaging Het
Pramel14 G A 4: 143,720,830 (GRCm39) P37L probably damaging Het
Prdm16 A G 4: 154,430,559 (GRCm39) Y309H probably damaging Het
Rap1gds1 A T 3: 138,661,962 (GRCm39) D382E probably damaging Het
Reln A G 5: 22,153,627 (GRCm39) F2226L probably damaging Het
Rmi2 C T 16: 10,657,765 (GRCm39) T125M probably damaging Het
Setd1a C T 7: 127,383,197 (GRCm39) T231I probably benign Het
Sftpa1 G A 14: 40,856,309 (GRCm39) G218D probably damaging Het
Shcbp1 A T 8: 4,786,138 (GRCm39) F655I probably damaging Het
Slc5a7 T C 17: 54,585,861 (GRCm39) I319V possibly damaging Het
Sp140l2 G A 1: 85,239,581 (GRCm39) P19S probably benign Het
Spata31d1c C T 13: 65,183,409 (GRCm39) T317I probably damaging Het
Speg C T 1: 75,404,742 (GRCm39) P2845S possibly damaging Het
Synpo2 A G 3: 123,029,550 (GRCm39) probably null Het
Tdpoz9 T C 3: 93,957,451 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,013,191 (GRCm39) S644T probably damaging Het
Tmem182 T A 1: 40,877,460 (GRCm39) Y112N probably damaging Het
Usp45 T A 4: 21,824,815 (GRCm39) N522K probably benign Het
Vnn3 A T 10: 23,740,237 (GRCm39) Y180F probably benign Het
Wnk1 C T 6: 119,979,241 (GRCm39) R282Q possibly damaging Het
Xrn1 A T 9: 95,846,118 (GRCm39) D57V probably benign Het
Zfp831 T C 2: 174,486,357 (GRCm39) V344A 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
IGL01868:Ddx46 APN 13 55,787,683 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- CATCAGTACTGTAGCAGCCC -3'
(R):5'- CGACCTGCCAAAGACTTATTAGTATG -3'

Sequencing Primer
(F):5'- TACTGTAGCAGCCCGAGGG -3'
(R):5'- TGTGTGTTACAGTTCACAGTTTAAG -3'
Posted On 2016-06-21