Incidental Mutation 'IGL00921:Ddx49'
ID28017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx49
Ensembl Gene ENSMUSG00000057788
Gene NameDEAD (Asp-Glu-Ala-Asp) box polypeptide 49
SynonymsR27090_2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL00921
Quality Score
Status
Chromosome8
Chromosomal Location70292866-70302489 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 70294756 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 345 (Q345*)
Ref Sequence ENSEMBL: ENSMUSP00000008004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000110124] [ENSMUST00000140212]
Predicted Effect probably benign
Transcript: ENSMUST00000003669
SMART Domains Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573

DomainStartEndE-ValueType
WH1 4 110 4.92e-37 SMART
low complexity region 198 210 N/A INTRINSIC
PDB:3CVF|D 285 342 2e-10 PDB
low complexity region 343 358 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000008004
AA Change: Q345*
SMART Domains Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
AA Change: Q345*

DomainStartEndE-ValueType
DEXDc 21 222 1.85e-57 SMART
HELICc 262 343 2.41e-29 SMART
low complexity region 369 383 N/A INTRINSIC
low complexity region 461 470 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110124
SMART Domains Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573

DomainStartEndE-ValueType
WH1 4 110 4.92e-37 SMART
low complexity region 198 210 N/A INTRINSIC
PDB:3CVF|D 285 342 2e-10 PDB
low complexity region 343 358 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127094
Predicted Effect probably benign
Transcript: ENSMUST00000135368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138688
Predicted Effect probably benign
Transcript: ENSMUST00000140212
SMART Domains Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573

DomainStartEndE-ValueType
WH1 4 110 4.92e-37 SMART
low complexity region 198 210 N/A INTRINSIC
PDB:3CVF|D 282 339 2e-10 PDB
low complexity region 340 355 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144890
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,285,729 I1530T probably damaging Het
Actb T C 5: 142,904,436 E237G probably damaging Het
Atrnl1 A G 19: 57,702,153 E931G probably damaging Het
Cenpc1 T C 5: 86,037,528 T375A probably benign Het
D1Pas1 A G 1: 186,968,786 D304G probably benign Het
Dnttip2 A T 3: 122,275,290 K51N probably benign Het
Fxr2 A G 11: 69,652,240 E621G probably damaging Het
Grhpr A G 4: 44,988,991 D216G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hook2 T C 8: 85,002,497 probably benign Het
Hspbp1 A G 7: 4,664,751 S248P probably damaging Het
Kat6a C T 8: 22,940,263 P1878L unknown Het
Klrg1 A T 6: 122,282,752 D20E probably benign Het
Layn G A 9: 51,057,408 T345I probably damaging Het
Mpi G A 9: 57,552,266 L9F probably damaging Het
Nbn T C 4: 15,963,833 V78A possibly damaging Het
Pkdrej A G 15: 85,817,226 I1503T probably damaging Het
Pou2f2 C A 7: 25,092,700 E577* probably null Het
Prim2 G T 1: 33,512,160 H292Q probably damaging Het
Tg A G 15: 66,764,453 N630D probably benign Het
Trim80 A G 11: 115,447,664 N440S probably benign Het
Ttn T C 2: 76,936,402 S3111G probably damaging Het
Ubash3a A G 17: 31,228,186 T339A probably benign Het
Zbtb21 A C 16: 97,952,022 S354A probably damaging Het
Zfp335 T C 2: 164,894,776 T980A possibly damaging Het
Other mutations in Ddx49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02630:Ddx49 APN 8 70301018 missense probably damaging 1.00
R0306:Ddx49 UTSW 8 70294672 unclassified probably benign
R0394:Ddx49 UTSW 8 70296925 missense probably damaging 0.97
R0421:Ddx49 UTSW 8 70295632 missense probably damaging 1.00
R0524:Ddx49 UTSW 8 70296924 missense probably damaging 0.98
R0764:Ddx49 UTSW 8 70297257 missense probably benign 0.01
R1051:Ddx49 UTSW 8 70294685 critical splice donor site probably null
R1852:Ddx49 UTSW 8 70300983 missense probably damaging 1.00
R2008:Ddx49 UTSW 8 70295444 missense probably damaging 1.00
R6216:Ddx49 UTSW 8 70297284 missense probably damaging 1.00
R7085:Ddx49 UTSW 8 70302483 unclassified probably benign
R7102:Ddx49 UTSW 8 70301076 missense probably damaging 1.00
R7648:Ddx49 UTSW 8 70297955 missense possibly damaging 0.95
R8126:Ddx49 UTSW 8 70295596 missense probably damaging 1.00
Posted On2013-04-17