Incidental Mutation 'R0097:Ddx41'
ID 41168
Institutional Source Beutler Lab
Gene Symbol Ddx41
Ensembl Gene ENSMUSG00000021494
Gene Name DEAD box helicase 41
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 41, 2900024F02Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0097 (G1)
Quality Score 123
Status Validated
Chromosome 13
Chromosomal Location 55678223-55684471 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 55683691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000021957] [ENSMUST00000224765]
AlphaFold Q91VN6
Predicted Effect probably benign
Transcript: ENSMUST00000021956
SMART Domains Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494

DomainStartEndE-ValueType
low complexity region 24 32 N/A INTRINSIC
low complexity region 39 56 N/A INTRINSIC
low complexity region 95 115 N/A INTRINSIC
DEXDc 200 411 8.56e-53 SMART
HELICc 446 527 5.99e-34 SMART
ZnF_C2HC 581 597 1.98e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021957
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495

DomainStartEndE-ValueType
low complexity region 55 71 N/A INTRINSIC
low complexity region 133 144 N/A INTRINSIC
low complexity region 161 174 N/A INTRINSIC
low complexity region 198 242 N/A INTRINSIC
low complexity region 260 286 N/A INTRINSIC
coiled coil region 371 404 N/A INTRINSIC
low complexity region 566 573 N/A INTRINSIC
low complexity region 622 635 N/A INTRINSIC
low complexity region 641 657 N/A INTRINSIC
Pfam:FAM193_C 722 776 9.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224686
Predicted Effect probably benign
Transcript: ENSMUST00000224765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225703
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Ddx41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ddx41 APN 13 55,679,212 (GRCm39) missense probably damaging 1.00
IGL00516:Ddx41 APN 13 55,680,280 (GRCm39) missense probably damaging 0.96
IGL02383:Ddx41 APN 13 55,680,170 (GRCm39) missense probably benign 0.04
R0081:Ddx41 UTSW 13 55,683,193 (GRCm39) missense possibly damaging 0.58
R0412:Ddx41 UTSW 13 55,678,421 (GRCm39) missense probably damaging 0.99
R0597:Ddx41 UTSW 13 55,680,819 (GRCm39) missense probably damaging 1.00
R0699:Ddx41 UTSW 13 55,679,112 (GRCm39) splice site probably benign
R1330:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R1812:Ddx41 UTSW 13 55,683,767 (GRCm39) missense probably benign 0.03
R2011:Ddx41 UTSW 13 55,681,906 (GRCm39) splice site probably null
R2224:Ddx41 UTSW 13 55,679,214 (GRCm39) missense probably damaging 1.00
R2310:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R2311:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R2355:Ddx41 UTSW 13 55,682,113 (GRCm39) missense probably benign 0.03
R2983:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R3032:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R3764:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R3773:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R3916:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R3926:Ddx41 UTSW 13 55,679,083 (GRCm39) missense probably damaging 1.00
R4153:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R4154:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R4372:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R4470:Ddx41 UTSW 13 55,682,293 (GRCm39) missense possibly damaging 0.87
R4519:Ddx41 UTSW 13 55,680,957 (GRCm39) missense probably damaging 1.00
R4569:Ddx41 UTSW 13 55,683,834 (GRCm39) missense possibly damaging 0.88
R4823:Ddx41 UTSW 13 55,679,868 (GRCm39) missense probably benign 0.02
R4837:Ddx41 UTSW 13 55,679,461 (GRCm39) missense possibly damaging 0.95
R5443:Ddx41 UTSW 13 55,683,104 (GRCm39) missense probably benign 0.00
R5642:Ddx41 UTSW 13 55,683,708 (GRCm39) missense possibly damaging 0.86
R5926:Ddx41 UTSW 13 55,682,112 (GRCm39) missense probably damaging 0.99
R5949:Ddx41 UTSW 13 55,679,874 (GRCm39) missense probably damaging 1.00
R6035:Ddx41 UTSW 13 55,681,781 (GRCm39) missense probably benign 0.00
R6035:Ddx41 UTSW 13 55,681,781 (GRCm39) missense probably benign 0.00
R7254:Ddx41 UTSW 13 55,681,769 (GRCm39) nonsense probably null
R7640:Ddx41 UTSW 13 55,682,052 (GRCm39) missense possibly damaging 0.81
R7803:Ddx41 UTSW 13 55,679,734 (GRCm39) missense probably damaging 1.00
R8690:Ddx41 UTSW 13 55,680,939 (GRCm39) missense probably damaging 1.00
R8714:Ddx41 UTSW 13 55,682,250 (GRCm39) missense probably damaging 1.00
R9071:Ddx41 UTSW 13 55,680,219 (GRCm39) missense probably damaging 0.96
R9089:Ddx41 UTSW 13 55,683,424 (GRCm39) missense probably benign 0.05
R9312:Ddx41 UTSW 13 55,683,842 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CACTGACATCAAGGCTGAGGAGAC -3'
(R):5'- AGGGACTAGTGAACCTGAGTTCCG -3'

Sequencing Primer
(F):5'- AGGTCTCGCCTTTGAAATCG -3'
(R):5'- CTTGGCTCTGAGGGACACTG -3'
Posted On 2013-05-23