Incidental Mutation 'IGL00516:Ddx41'
ID 5935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx41
Ensembl Gene ENSMUSG00000021494
Gene Name DEAD box helicase 41
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 41, 2900024F02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00516
Quality Score
Status
Chromosome 13
Chromosomal Location 55678223-55684471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55680280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 371 (T371A)
Ref Sequence ENSEMBL: ENSMUSP00000021956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000047877] [ENSMUST00000223563] [ENSMUST00000224765]
AlphaFold Q91VN6
Predicted Effect probably damaging
Transcript: ENSMUST00000021956
AA Change: T371A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494
AA Change: T371A

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: ENSMUST00000047877
SMART Domains Protein: ENSMUSP00000046695
Gene: ENSMUSG00000035711

DomainStartEndE-ValueType
PH 7 125 3.54e-5 SMART
IRS 157 256 1.61e-41 SMART
PTBI 158 256 2.59e-24 SMART
low complexity region 273 284 N/A INTRINSIC
low complexity region 304 315 N/A INTRINSIC
low complexity region 358 376 N/A INTRINSIC
low complexity region 410 421 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224686
Predicted Effect possibly damaging
Transcript: ENSMUST00000224765
AA Change: T382A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225783
Coding Region Coverage
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,267,638 (GRCm39) D91G possibly damaging Het
Abcc1 T A 16: 14,231,176 (GRCm39) L438* probably null Het
Asph A T 4: 9,639,322 (GRCm39) N14K probably damaging Het
Baz1b T C 5: 135,245,444 (GRCm39) Y298H probably damaging Het
Ccdc66 A T 14: 27,220,413 (GRCm39) W267R probably damaging Het
Cd81 A C 7: 142,620,901 (GRCm39) K193N probably damaging Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Cflar T C 1: 58,771,469 (GRCm39) I199T probably benign Het
Cmya5 A G 13: 93,234,675 (GRCm39) S138P possibly damaging Het
Cnot1 T C 8: 96,452,707 (GRCm39) N2123S probably damaging Het
Crybg3 A G 16: 59,350,803 (GRCm39) S846P probably benign Het
Cyp2d9 A G 15: 82,339,295 (GRCm39) I21M probably benign Het
Dnhd1 A T 7: 105,306,418 (GRCm39) I425F possibly damaging Het
Dsc1 T C 18: 20,234,943 (GRCm39) D237G probably damaging Het
Emc1 T C 4: 139,082,393 (GRCm39) probably benign Het
Epc1 T A 18: 6,450,515 (GRCm39) D367V probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Helb A G 10: 119,941,329 (GRCm39) V453A probably damaging Het
Hras A G 7: 140,772,783 (GRCm39) I24T possibly damaging Het
Hsf2 A T 10: 57,388,124 (GRCm39) I423L probably benign Het
Igkv2-109 T A 6: 68,280,054 (GRCm39) S92T probably benign Het
Kiss1r G A 10: 79,754,550 (GRCm39) A15T possibly damaging Het
Krt79 T C 15: 101,848,601 (GRCm39) S17G probably damaging Het
Lrrc14b T C 13: 74,509,078 (GRCm39) D443G probably damaging Het
Map4k4 T A 1: 40,053,762 (GRCm39) V953E probably damaging Het
Mybpc2 G A 7: 44,154,829 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,530 (GRCm39) E173G probably damaging Het
Neurl4 C T 11: 69,801,219 (GRCm39) R1199W probably damaging Het
Otog T A 7: 45,900,706 (GRCm39) V333E probably damaging Het
Pdcd2l A T 7: 33,884,246 (GRCm39) probably null Het
Plagl1 A G 10: 13,003,616 (GRCm39) probably benign Het
Rbm34 T C 8: 127,696,736 (GRCm39) N122S probably benign Het
Shank2 A G 7: 143,964,512 (GRCm39) K917E possibly damaging Het
Slc17a8 T C 10: 89,427,157 (GRCm39) K315E possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Sytl2 A G 7: 90,022,113 (GRCm39) T183A probably benign Het
Tnik T A 3: 28,708,367 (GRCm39) I1067N probably damaging Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trhde A T 10: 114,282,104 (GRCm39) I791N probably benign Het
Ttc28 A T 5: 111,373,554 (GRCm39) N966Y probably damaging Het
Vps13b A T 15: 35,640,703 (GRCm39) D1356V probably damaging Het
Zmym2 A G 14: 57,185,394 (GRCm39) probably benign Het
Other mutations in Ddx41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ddx41 APN 13 55,679,212 (GRCm39) missense probably damaging 1.00
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
R0097:Ddx41 UTSW 13 55,683,691 (GRCm39) splice site probably benign
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
Posted On 2012-04-20